Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a 501(3)c public nonprofit foundation/organization, focused on improving patients' lives by accelerating research, fostering international collaborations, and providing quality educational and awareness materials. Shwachman-Diamond Syndrome is a life-threatening condition. We save lives by accelerating research to #CureSDS. Join our network of patients, families, doctors, and researchers, working together to drive research and accelerate therapy development, so that people with Shwachman-Diamond Syndrome can live their lives to their full potential and get more birthdays to celebrate. Join Us Meet the Team Our Story We bring patients, caregivers, doctors, and researchers together to drive research and accelerate therapy development. As a patient advocacy nonprofit, we build and share research tools and infrastructure, amplify the patient voice to guide therapy development, create collaboration frameworks and opportunities, and strategically invest funding into projects with a potential to become transformative therapies. Our Impact Join our mailing list. Be part of our Global Network. Join Now Be the first to learn about updates on SDS research, care guidelines, therapy development, advocacy, and community news. Developing a therapy for SDS is complex, expensive, and never fast enough . Our programs are designed to get it done . Now. Our Strategy For Patients and Families For Doctors and HCPs For Researchers and Industry Amazing Opportunity to Be Heard: SDS PFDD Meeting We hosted an Externally-Led Patient-Focused Drug Development Program (EL-PFDD) meeting for Shwachman-Diamond Syndrome on June 4th, 2025. Cinicnnatti, OH and Virtual via Zoom. Provide your thoughts today! Watch the recording and learn more See our impact . New collaborations, further reach, faster progress. Featured News All our Blogs The SDS PACER Course Is Now Live! Deep Dive into SDS, Research, and How You Can Make a Difference The SDS PACER Course is a free, self-paced online course for Shwachman-Diamond Syndrome patients and families. Six modules covering SDS science, research, and therapy development. One Year Later: The SDS PFDD Voice of the Patient Report Is Published — and Your Voice Is Already at Work The Shwachman-Diamond Syndrome Voice of the Patient report is now published and submitted to the FDA. Learn what the EL-PFDD meeting captured, how the report is used, and what comes next. How to Fundraise for Shwachman-Diamond Syndrome Research: A Free Guide for Families and Supporters SDS Alliance's free fundraising guide helps families and supporters raise funds for Shwachman-Diamond Syndrome research — on their own terms, at any level. 1 2 3 4 5 Let’s give SDS patients and their families more birthdays to celebrate. Join us. Join our global network of patients, families, doctors, and researchers, working together to drive research and accelerate therapy development, so that people with Shwachman-Diamond Syndrome can live their lives to their full potential. Join Us Donate

The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, with the goal of * expanding the understanding of SDS * improving the lives of people with SDS, and * accelerating the development of new therapies and cures for SDS. Join SDS-GPS now Destination Cure. Driven by You. Join by Creating an Account Existing Account Login SDS-GPS and More Publications SDS-GPS is an Opportunity for You to Accelerate Therapy Development and a Cure for SDS The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, to expand the understanding of SDS improve the lives of people with SDS, and accelerate the development of new therapies and cures for SDS. By joining, participants will receive early access to relevant information about new clinical trials and other research opportunities (such as clinical registries) based on their profile, accelerating research and increasing clinical trial design and recruitment success. Joining is Quick & Easy All you need: 30-60 minutes of your time (you can take breaks) The patient's genetics report (if available). Learn more . A computer or mobile device with internet Optional: Schedule a call with our team if you would like help with getting started. Click here for our calendar booking link and select how long you would like to meet with us on Zoom. Join Us to Make an Impact Be the first to know about clinical trials and research opportunities relevant to you, based on your profile, mutation, symptoms, and demographics Drive research by expanding the knowledge about SDS and informing clinical trials' needs and designs Become an integral part of a global community that cares Your experience - whether it falls in the mild or severe end of the spectrum - matters. Your voice counts. We strive to make this opportunity available to all patients/families by making it accessible from anywhere, anytime. We are excited to share that the SDS-GPS platform and surveys are now available in 5 languages: English, Spanish, French, Italian, and German. We are looking to add more languages as funding allows. English Espanol (Spanish) Francais (French) Italiano (Italian) Deutsch (German) What aspects of my story can I share through SDS-GPS? Surveys on the SDS-GPS Program Platform are designed to be quick and easy, without the need to have to look up any details from medical records. You can save your progress and come back anytime. Survey topics include: Socio-demographics Medical history and diagnostics Treatment and disease progression Management of and access to care Quality of life. Learn more . Additional aspects of life with SDS - your human story - are extremely valuable as well, and we are looking to help you share those through other SDS Alliance programs. For example, check out our resource page on patient stories. How can my story help drive therapies and cures? Your story helps paint a more complete picture of what SDS is and how it impacts the people living with it. Your participation helps build a strong, engaged community, which is critical to drive progress. Without patients and their families, research cannot advance. We (the SDS-GPS team at the SDS Alliance) use your de-identified aggregate survey responses and other data you share to develop a deeper understanding of the unmet needs of the community. We use the insights to Prioritize research, educational resources, and community programming Promote data and knowledge sharing via collaborations, publications, conference presentations, and other communication channels Provide you with information about relevant research opportunities (such as the SDS Registry and other natural history studies), clinical trials, educational resources, and community support connections. How does SDS-GPS work? Sign up for a free SDS-GPS account (hosted by Matrix) in 4 easy steps and tell us a little bit about yourself or your loved one. Enrolling and participating takes little time, and you can come back later to update your information. Answer surveys from the comfort of your home at any time that works for you. Upload your genetics report if available, or at a later. Learn more . Privacy and security are protected to the highest standard. Learn more . Move research forward without any clinic visits or virtual appointments. With your consent, we publish and share de-identified data (your survey responses) with approved researchers to support research to benefit the SDS community. The information you provide through easy surveys is structured and coded behind the scenes, to be usable for high-quality, impactful research. Keep track of your or your loved one’s medical appointments, medications, and symptoms via your SDS-GPS account, and have all the information at your fingertips whenever and wherever you need it. You can share any information you like with your care team. You retain full control over access. Patients, Parents, Caregivers: Join in 4 simple steps! Create an Account Download Quick Start Guide Step 1: Create an account Request access to create an SDS-GPS account on the Matrix platform. You will be asked to confirm your email address and create a secure password. Frequently Asked Questions: How is my information used and protected? Who will be able to view my information? In addition to the SDS-GPS team as part of the SDS Alliance, the following are groups with whom your Program team may share your de-identified data and samples to support research and therapy development. All these entities will have oversight committees (such as an IRB) that will supervise the ethical use of the data and samples and protect the participants. • Health authorities throughout the world (e.g., U.S. Food and Drug Administration (FDA), European Medicines Agency (EMA), and other governing bodies that review clinical trials). • Institutional Review Boards (IRB) that oversee and review the ethics of the research. • The program sponsor (SDS Alliance) and those working for or with the sponsor, which may include affiliates of the sponsor located in your country or other countries. • Other groups: Examples of which include academic, government, or industry researchers; public-private partnerships; and/or external research collaborations. • Programs and platforms to facilitate the sharing of de-identified data and combining multiple datasets, such as the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP), European Rare Disease Registry Infrastructure (ERDRI), or Terra by the Broad Institute. Is my information secure? The SDS-GPS Program data will be stored on secure servers located in the United States of America (U.S.). Data entry may be performed anywhere in the world via web interface. For persons living outside the U.S. who choose to share information about themselves, the same protections for privacy and confidentiality are offered as in the U.S. Privacy laws in other countries, such as General Data Protection Regulation (GDPR), may have different protections than those provided in the U.S. Participants’ data may be transferred to the U.S. (e.g. to servers physically located in the U.S.). • Participants’ privacy and confidentiality will be safeguarded by using modern database management techniques and informed consent. As part of consent, participants will have the ability to state whether future re-contact is acceptable. SDS-GPS Program staff may contact participants to clarify data entry. • Confidentiality will be protected by limiting access to data and keeping Protected Health Information (PHI) password protected on a secure server. "Protected Health Information" or PHI is a term used for health-related information that can specifically identify a patient, for example, their name, date-of-birth, and place of birth, etc. Privacy and confidentiality risks will be minimized by the following means: • Access to PHI in the database will be limited to as few SDS-GPS Program team members as possible. • All team members with access to PHI will have to go through CITI or similar training on how to protect PHI. • Participants will be assigned a unique patient identification number or will be asked to provide a research ID they may have received from a third party (such as the Clinical Research ID (CRID)). Any data that is shared will be labeled with this unique identifier instead of participants’ PHI, such as their name, picture or any other identifying information. • PHI and other data are kept safe using the highest encryption standard available and protected via password-protected and encryption security measures. Do I have to participate in this program? If I choose to participate, can I change my mind and withdraw later? Participation in the SDS-GPS Program is voluntary. Participants are free to withdraw at any time, for any reason. To withdraw, they will need to contact the SDS-GPS Program team by email at GPS@SDSAlliance.org. Refusing to participate will involve no penalty or loss of benefits to which one is otherwise entitled. Participants have the right to ask that we delete their personal information. If we still have their personal identifiers (PHI), we will delete them to the extent possible and unlink their data from any information that could identify them. De-identified information no longer connected to PHI cannot be identified and won’t be deleted. De-identified information that has already been shared with researchers or groups cannot be retrieved or removed. Who will information from the Program be shared with, and how? Identified Data: Identified data, including PHI, is protected and won’t be shared outside the SDS-GPS Program. "Protected Health Information" or PHI is a term used for health-related information that can specifically identify a patient, for example, their name, date-of-birth, and place of birth, etc. De-identified data: For de-identified data (i.e. data that is no longer linked to a specific person), there are several types of data access and dissemination options. • Aggregate Data. Such information may include the number of participants, the prevalence of individual common diagnoses, demographic information, and percent willingness to be re-contacted for future research. • De-identified, Patient-level Data. De-identified data is available for researchers to use in statistical analysis for pre-clinical explorations, publications, presentations, grant preparations, and more. Researchers can apply for access via an application form. All applications will be reviewed by the Data Access Committee. • Support in identifying and recruiting patients for clinical trials and other research studies. Requests will be reviewed by the Data Access Committee. IRB approved recruitment material will be distributed by the SDS-GPS Program team. No patient list will be shared with third parties. • Investigators wanting to use the SDS-GPS Program data need to apply to the Data Access Committee. The Committee is composed of the Program Principal Investigator, patient representative, and members with scientific, medical, legal and/or ethical expertise. It ensures that the request for data use aligns with the purposes of the Program and its policy. The application requires providing the following information through an online form or by email to the Program team at GPS@SDSAlliance.org: • Principal Investigator (Name, contact information, and CV) • Aims and hypotheses of the proposed research • Where and how the research will be performed • How the research will be funded • How the results will be published and/or shared, and • What type of data access is requested A data transfer agreement will be distributed ahead of the data, specifying the agreed-upon scope of research to be performed and specifying that no attempt may be made to identify the SDS-GPS Program participants. Can my doctor or medical professionals view my information? Participants have the option to access and share their own data in the SDS-GPS Program Platform. Physician access to the platform may be available in the future, upon written permission of the participant. What is the SDS-GPS Program? What is the purpose of the SDS-GPS Program? The SDS-GPS Program stands for Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program. It was created in 2023 by the Shwachman-Diamond Syndrome Alliance, Inc. - a patient-centric research-focused nonprofit research organization based in the US, serving the global SDS community - in order to enable and accelerate the development of therapies and cures for Shwachman-Diamond Syndrome (SDS) and related disorders and to optimize patient care. How will SDS-GPS contribute to research? The purpose of the SDS-GPS Program is to enable and accelerate therapy development and disease understanding by • Collecting standardized data through validated surveys, medical records, and other means, in a consistent way and from as many individuals as possible. This is essential for (ultra-)rare diseases like SDS to enable progress. The Program is aimed at enabling the development of patient-reported outcome measures (PROs) and real-world evidence (RWE) through the collection and analysis of real-world data (RWD). • Incorporating the patient voice into all aspects of the research and therapy development continuum. One important tool to capture the patients’ voice and to support the development of patient-centric priorities is the use of surveys to assess the needs of the SDS and related disorder communities. • Making data available to any researcher who wants to better understand SDS, related disorders, community needs, and work toward improved care and novel therapies. We want as many scientists as possible around the world working on SDS and related disorders toward therapies and cures. • Developing a database of people who may be interested in participating in future studies, including clinical trials, with all the necessary information about them already in place. We encourage all patients to consider participating in any registry or study available to them. • Driving collaborations between all stakeholders, including patients, registries, researchers, clinicians, and regulators. We are leading the way by building collaboration opportunities and data sharing frameworks into all our programs. Who can join SDS-GPS? The Program is open to patients of all ages who have a confirmed diagnosis of the below, using established diagnostic guidelines, plus their parents/caregivers. • Patients with a confirmed Shwachman-Diamond Syndrome (SDS) diagnosis, including a genetic or clinical diagnosis. The initial focus will be on patients with a genetic diagnosis of SDS based on biallelic mutations in SBDS or EFL1. • Patients with a confirmed diagnosis of an SDS-like syndrome (e.g. due to mutations in DNAJC21, SRP54, or other genes that may be associated with an SDS-like syndrome in the future). • Patients with other heritable hematological malignancy disorders (such as RUNX1-FPD, Fanconi Anemia) and/or congenital neutropenias (such as ELANE neutropenia) are also eligible for inclusion. • Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased. What are the benefits of joining SDS-GPS? There may be no direct benefit to the participants associated with articipation in the SDS-GPS Program. However, by giving approval for your de-identified data and samples to be shared for research purposes, your valuable contributions have the best chance to be used as effectively as possible for research not only today but also in the future as new research questions and technologies emerge. Furthermore, by providing your contact information and agreeing to be re-contacted by the SDS-GPS program, you will be able to receive the most relevant information about your (or the participant’s) disorder, support services and connections, educational resources, information about relevant clinical trials, and access tools to store and manage their own health records and information. Are there any risks to participating in the Program? Could it cause me any harm? Participation in the SDS-GPS Program presents minimal risks to its participants. The risks are related to privacy. There are no risks of physical harm associated with participation in the SDS-GPS Program. Participation in the SDS-GPS Program does involve the potential risks of a breach of confidentiality of medical information and the associated privacy of the participants. Is the SDS-GPS Program a clinical trial, a registry, or both? According to the NIH, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure and that serves predetermined scientific, clinical, or policy purpose(s). Studies derived from well-designed and well-performed patient registries can provide a real-world view of clinical practice, patient outcomes, safety, and clinical, comparative, and cost-effectiveness, and can serve a number of evidence-development and decision-making purposes. In this sense, the SDS-GPS Program could be considered a "registry," but it is so much more than that. It gives patients a voice and builds community and collaborations between stakeholder groups (patient, caregiver, researcher, and clinician communities). The main difference between registry studies and clinical studies or clinical trials is that registry studies are observational (passively observing the natural history or normal progression of the disease, untreated or using current standards of care), whereas clinical studies are investigational (investigators are instructed to treat the condition in a certain way, and then outcomes are measured). The SDS-GPS Program is applying to be registered on ClinicalTrails.gov. What is a registry? And is the SDS-GPS Program a registry? The SDS-GPS Program could be considered a patient-powered registry, but it is much more than that. In addition to collecting patient data, it is focused on sharing the data, building collaboration, and empowering patients by providing them access to their data and modern tools to manage their data. “Patient registries have been defined as “an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves a predetermined scientific, clinical, or policy purpose(s).” In brief, a patient registry is a collection—for one or more purposes—of standardized information about a group of patients who share a condition or experience.” In what languages can I participate? The SDS-GPS Program platform (hosted by Matrix) is available in several languages, including English, Spanish, German, Italian, and French. Most surveys administered on the platform are also available in several languages. We are striving to add more languages based on the needs of the community and capacity. Why is patient-reported data so important? Patient-reported data is crucial for drug development and FDA (U.S. Food and Drug Administration) approval for several reasons. Including patient perspectives and experiences in the evaluation process enhances the overall understanding of a drug's effectiveness and safety. • Patient-Centric Focus: Incorporating patient-reported outcomes (PROs) ensures that drug development is centered around patients' experiences and the impact of the condition on their daily lives. This patient-centric focus aligns with the goal of developing treatments that genuinely address patients' needs and improve their quality of life. • Measuring Treatment Benefits: Patient-reported data provides direct insight into the benefits of a treatment from the patient's perspective. This information is particularly valuable in assessing the drug's impact on symptoms, functioning, and overall well-being, which may not be fully captured by traditional clinical measures alone. • Endpoint Selection: Patient-reported outcomes can help inform the selection of meaningful and relevant endpoints for clinical trials. By including endpoints that matter to patients, researchers can design studies that better reflect the real-world impact of a drug, making the results more applicable to patients' experiences. • Clinical Trial Design and Recruitment: Patient-reported data is essential in the design of clinical trials, helping researchers determine the appropriate study population, design patient-friendly protocols, and enhance recruitment strategies. This contributes to the overall success and efficiency of clinical trials. • Regulatory Requirements: Regulatory agencies, such as the FDA, increasingly recognize the importance of patient-reported data in evaluating drug safety and efficacy. In many cases, the FDA requires the inclusion of PROs in clinical trial protocols, and positive patient-reported outcomes can support a drug's approval by demonstrating its meaningful impact on patients' lives. • Labeling and Communication: Patient-reported data can influence the content of drug labels, ensuring that important information about the drug's benefits and risks is communicated clearly to healthcare providers and patients. This transparency aids in informed decision-making and appropriate use of the medication. • Post-Marketing Surveillance: Patient-reported data continues to be valuable after a drug is on the market. Monitoring patient experiences and outcomes post-approval helps identify any previously unrecognized side effects, assess long-term benefits, and guide further recommendations for use. • Health Economics and Market Access: Patient-reported outcomes contribute to health economic assessments and market access strategies. Demonstrating the positive impact of a drug on patients' lives can influence reimbursement decisions and market access, making the drug more widely available to those who need it. • In summary, patient-reported data is integral to the drug development process, providing a comprehensive understanding of a drug's benefits and risks. Its inclusion enhances the credibility of clinical trials, regulatory submissions, and post-marketing evaluations, ultimately contributing to improved healthcare decision-making and better outcomes for patients. Who is sponsoring (paying for) the SDS-GPS Program? Are there any third parties involved? The initial design and implementation of the Program, as well as annual maintenance, will be funded by the Shwachman-Diamond Syndrome Alliance (“SDS Alliance”) - the Sponsor. In order to maximize the impact of the participant’s data and efforts, we invite and encourage researchers from other organizations and companies to apply for and access certain sets of data. The SDS Alliance may get paid by some of these partners and will use the proceeds to sustain and grow the SDS-GPS Program and other programs to benefit the SDS community. How can I support the SDS-GPS Program? Your participation (enrolling in SDS-GPS and filling out surveys) is the most important way to support this program. Additionally, financial support for the SDS Alliance is always impactful, as all its programs are focused on accelerating therapy development and cures, and improving patient care. Turning hope into action, together. How Can I Participate in the Program? What will I need to do in order to participate? Participants will need to follow the following steps to participate in the Program: • Setting up an account on the SDS-GPS Program platform, which can be done by a caregiver or patient. • Adding participants (which can be patients, parents, caregivers, or close relatives) • Providing informed consent (IRB approved) for each participant (online on the Program platform) including options to agree to be re-contacted. • Adding contact and demographic information about each participant(s) • Uploading the genetics report of the participant(s), if available. • Answering surveys (about the participant’s physical and mental health, quality of life measures, the burden of disease, community needs assessment, and other aspects of SDS and related disorders) that are available in the participant’s account on the Program platform. Most of the surveys need to be answered on an annual basis or more, in order to track changes to their experience over time. The Program platform or team may send reminders to update surveys and other information. Participants may also have the opportunity to contribute additional types of data, such as • connecting their electronic health records (EHR), answering interview questions, allowing their healthcare provider to add health information on their behalf, uploading additional test results and lab measurements, connecting metrics from devices, and new technologies yet to be developed. • data associated with samples for biobanking and research. Sample collection and banking are governed under separate protocols and IRB. What is Informed Consent? Informed Consent is a process in which patients and research participants are given important information, including possible risks and benefits, about a medical procedure or treatment, genetic testing, a clinical trial, or studies, registries, and data collection programs. This is to help them decide if they want to participate. Patients are also given any new information that might affect their decision to continue. Who should provide informed consent on behalf of the participant? Any individual considered a legal adult (also known as someone over the age of majority) who is diagnosed with Shwachman-Diamond Syndrome (SDS) or related disorders who is able to understand this consent form and wants to participate in this program should consent on their own behalf. • A parent or guardian may enroll a child who is under the age of majority (in many places, under the age 18 years). Please see ascent instructions in the consent form. The SDS-GPS program team will contact each participant who was enrolled as a child, upon reaching the age of majority, explain the purpose of the program, and seek their consent to continue their participation. In other words, individuals for whom their parents provided consent will be asked to provide their own consent when they reach the age of majority. • A Legally Authorized Representative (LAR) may enroll an adult over the age of majority who is unable to consent. • Family members or caregivers of a patient who has passed away can also participate and provide information about the deceased patient. No formal Informed Consent is necessary, but the information presented here may still be helpful for understanding the Program. What is a genetic report? Why are you asking for it? Genetic confirmation of your diagnosis is very important for both optimizing your own healthcare and also for research. Without it, researchers cannot determine whether a specific gene or mutation is responsible for the symptoms you experience. Please upload it to the SDS-GPS Program platform when prompted. As with all personal information, it will be protected with utmost care. If you have never had genetic testing or are having a hard time accessing testing, please reach out to us at genetics@SDSAlliance.org. We may be able to help you access free genetic testing options or point you to relevant resources or experts. A genetics report, also known as a genetic test report or genetic analysis report, is a document that provides information about an individual's genetic makeup based on the results of genetic testing. Genetic testing involves the analysis of an individual's DNA to identify variations or mutations in specific genes associated with certain traits, conditions, or susceptibilities. Genetic reports typically include: • Personal Information: Name, date of birth, and other relevant demographic details of the individual undergoing genetic testing. • Test Information: Details about the specific genetic test or tests conducted, including the methodologies used and the genes or regions of the genome analyzed. • Genetic Variants: Identification of specific genetic variants found during the testing process. These variants may include single nucleotide polymorphisms (SNPs), insertions, deletions, or other genetic alterations. • Interpretation of Results: Explanation of the significance of the identified genetic variants. This section may classify variants as normal, pathogenic (associated with a disease or condition), or of uncertain significance. • Genetic Conditions or Traits: Information about any genetic conditions, predispositions, or traits associated with the identified variants. This may include details about the risk of developing certain diseases, carrier status for genetic disorders, or information about drug response and metabolism. • Risk Assessment: If applicable, an assessment of the individual's risk for developing specific diseases or conditions based on the identified genetic variants. • Clinical Implications: Recommendations or implications for medical management, surveillance, or preventive measures based on the genetic findings. • Inheritance Patterns: Information on how the identified genetic variants may be inherited and whether they follow an autosomal dominant, autosomal recessive, or other inheritance pattern. • Limitations of the Test: Discussion of the limitations of the genetic test, including potential false-positive or false-negative results, and the scope of conditions covered by the test. • Genetic Counseling Recommendations: Guidance on the importance of genetic counseling and recommendations for further discussions with a genetics professional to fully understand the implications of the genetic test results. It's crucial to note that genetic testing should be carried out under the supervision of healthcare professionals, and the interpretation of results often requires expertise in genetics. Genetic reports are valuable tools that can inform medical decision-making, risk assessment, and personalized healthcare planning based on an individual's genetic profile. What if I don’t have a genetics report? If you have received genetic testing for SDS and/or related disorders but don’t have access to a copy, please check with your healthcare provider or testing company on how to access it. We may be able to help with the process of obtaining a copy on your behalf with specific paperwork. Please contact us at genetics@SDSAlliance.org for assistance. If you don’t have access to genetic testing, we may be able to assist! We can connect you to experienced doctors and no-cost testing options almost anywhere in the world. We can also provide information on testing strategies and interpretation to your physician or connect them with local experts. Please contact us at GPS@SDSAlliance.org for assistance. Can I learn more about my genetics when I upload my report? Before you upload your genetics report, you will have the option to indicate whether you would like us to inform you if new information becomes available about the genes and variants described in your report. As we learn more about genetic changes, our understanding of their relationship to health might change. For example, the classification of Variants of Unknown Significance (VUS) may change over time, or new genes may be discovered that could explain symptoms or disorders. Some updates may impact your medical care, while others may not. Such updates are rare, so most participants will not receive updates. It is not possible for us to identify all updates related to participants’ genetic test results. Answering “Yes” means that you may be contacted by our team if we learn about potential updates to your/the participant’s genetic test results. Our email would direct you back to your doctor or a healthcare provider in your area to discuss possible updates in more detail, as our team is not able to provide medical care. Please contact us at genetics@SDSAlliance.org for assistance. Will I be able to view or change my responses after completing a survey? Yes! The system will keep track of changes in order to comply with data collection standards. Additionally, most of the surveys need to be answered on an annual basis or more, in order to track changes to participants’ experience over time. The Program platform or team may send reminders to update surveys and other information. Is it really FREE? Is there any cost associated with participation? The SDS-GPS Program platform (application) is FREE to use for participants, as the cost is covered by the SDS Alliance (sponsor). However, the application utilizes the participant’s cell phone, tablet, or computer, and will utilize their data/internet connection. The application will send notifications and reminders. There may be fees for text messages and data usage as per your plan with your cell phone or internet provider. To facilitate participation by underserved communities, the SDS Alliance may occasionally offer financial assistance to overcome such barriers. Do you provide any incentive for participation? Participants will not be paid for their data. Occasionally, we may offer participants a gift card or other small compensation for their time and effort involved in participation, such as completing certain surveys. If compensation is available, we will tell them the details prior to the start of the activity. The use of data may result in commercial profit, such as a product, material, or process. Participants will not share in any commercial value or profit derived from the use of their data nor will they have special access to any products or therapies created. Will survey results be shared back with me? Yes. We will share results in many different ways. • You can always access your own surveys and answers, and print or share as you wish. • Participants will also be able to see how their survey answers compare to other participants for certain questions, once sufficient participants have filled out the surveys. This is a built-in feature of the Program platform. • To promote the use of the SDS-GPS Program and data, aggregate, de-identified data will be collated at least annually and made available to the public through various means, such as the SDA Alliance or Progam website, newsletter, email or mail, conferences, webinars, social media, or publications. Such information may include data in aggregate of a group of participants, instead of patient-level data, such as the number of participants, the prevalence of individual common diagnoses, demographic information, and level of engagement. How can the SDS-GPS platform help me manage my health information? How can the SDS-GPS platform help me manage my health information? Use it as a personal health monitoring tool Utilize tools and features that make managing daily care easier Share health information easily with others Symptoms and Activities Tracker Track symptoms and activities on the platform, including energy levels, pain, illnesses, medication or diet changes, doctor or therapy appointments, and more! Use an existing favorites list or create your own symptoms and activities list to track those that are meaningful and important to you Graphs can be created with multiple activities and symptoms to look for patterns and possible correlations Medications Tracker Log medications, dosages, and refill dates Text and email notifications for medication administration and refill reminders Important Document Storage and Organization Upload your documents for easy organization and access - medical records, IEP’s, evaluations, medication lists, physician contact lists, guardianship, etc. Documents can be shared as PDF files with healthcare providers, other caregivers, and anyone you'd like to have them Journal Keep notes and written narratives of important information such as changes in eating or sleep, unusual behaviors, parent-teacher interactions, or any other things you want to remember Keep a list of questions for the next doctor's appointment Resource Center Find important documents, forms, and information from the SDS Alliance and other peer-reviewed guidelines and resources to help with your Program participation or make day-to-day life and care easier Find announcements and details about clinical trial opportunities Sharing Center Download and share any information you've entered into Matrix (your own personal health data) with anyone you'd like, such as your healthcare providers, school nurses, care providers, etc... Message Center Two-way communication with the SDS Alliance related to the SDS-GPS Program A safe, secure, and private way to share information and questions

We are actively working on growing our medical and scientific advisory board. If you have expertise in hematology, data science, genomics, gene and cell therapy, drug development, and related fields, we would love to talk. Meet the Team SDS Alliance Leadership, Staff, and Key Volunteers SDS Medical and Scienctific Advisory Board Strategy and Therapy Development Advisory Board SDS Alliance Leadership, Staff, and Key Volunteers Ashley Thompson Eszter Hars, Ph.D. Founder and CEO, SDS Alliance Dr. Hars holds a Ph.D. in Molecular Biology from the University of Medicine and Dentistry of New Jersey, where she studied cancer and leukemia. She has over 20 years of experience in scientific research and the biotech industry. As VP of Regulatory Affairs at CytoVera Inc., a lab equipment developer for hematopoietic stem cell banking, Dr. Hars was in charge of regulatory approval of medical devices by the U.S. Food and Drug Administration. Dr. Hars has also managed business development as well as customer relationships at Quosa Inc., an information technology company, which was acquired in 2012 by Elsevier, the largest scientific publisher in the world. Dr. Hars has been engaged in SDS community building and volunteering wherever possible since her daughter was diagnosed with Shwachman-Diamond Syndrome (SDS) in 2015. In 2020, Dr. Hars founded the SDS Alliance, a 501(c)(3) nonprofit organization serving the global SDS community. Through the SDS Alliance, Dr. Hars is dedicated to accelerating the development of new therapies for SDS. Her new publication - From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development - highlights recent advances in the SDS field. New: Schedule a call with me here. Ashley Ferreira Ashley Thompson, MS, CGC Genetic Project Manager, SDS Alliance Ashley Thompson, MS, CGC is a board-certified genetic counselor who received her Master of Science in Genetic Counseling from Bay Path University (Longmeadow, Massachusetts) in 2023 and now works in variant interpretation. She received her B.S. in Biochemistry from Converse College (Spartanburg, SC) in 2018 and graduated with honors in the field of chemistry. During her undergraduate career, Ashley was an NIH Undergraduate Scholarship Program Awardee for her efforts in biomedical research and selected for a position as a post-baccalaureate research fellow at the National Cancer Institute (NCI). From 2018 until 2023, Ashley studied the clinical genetics, epidemiology, and psychosocial impact of hereditary cancer predisposition syndromes. She was the first-author on several manuscripts including a cohort review aimed at investigating the relationship between SBDS variants and the clinical presentation of individuals with SDS participating in the NCI Natural History Study for Inherited Bone Marrow Failure Syndromes. During her fellowship at the NCI, Ashley's exposure to the critical role genetic counselors play in both research and the lives of those with a hereditary predisposition to cancer inspired her to become a genetic counselor herself. She is excited to contribute to the SDS community and enjoys volunteering with patient advocacy groups. She currently lives in the Washington, DC area and enjoys baking, trying new foods, and hiking with her dog, Julep, in her free time. Ashley Ferreira, BA, MPA Community Engagement and DEI Project Manager, SDS Alliance Ashley Ferreira started to work with us in 2023 as our consultant for DEI and Community Engagement and Education. Ashley earned a Master of Public Administration (MPA) degree from California State University in 2019 and has nearly 10 years of experience in community and patient engagement, including leading Diversity, Equity, and Inclusion initiatives and the national Walk for PI program at the Immune Deficiency Foundation. As a caregiver to several family members with chronic health issues, she is passionate about ensuring patients and caregivers have access to the resources they need to be their own best advocates, participate in research to accelerate treatments, and come together to raise awareness for their communities. She lives in Michigan with her family and several treasured rescue cats. Jacquelyn Kaufmann Poarch Chair, Adult SDS Patient Council, Clinical Education Lead, SDS Alliance Jacquelyn Poarch is an adult with SDS, who was diagnosed by Dr Harry Schwachman in 1976. She has been active in patient advocacy for over 25 years. Ms Poarch is a multi-subject certified teacher, who concentrates on science education, primarily secondary and tertiary school Biology, and Anatomy and Physiology, and Medical Terminology. She has had an eclectic career path, including as an opera singer in Europe, flying airplanes, and working in commercial aviation, as a social worker for the US Navy, and for the last 25 years, as a teacher. During the Balkan War, she formed a 501c3, and went to Bosnia, and removed 98 teens, placed them with American families, and in high schools so they could survive, and be educated. Ms Poarch has attended, and holds degrees and licenses from such diverse institutions as Universität Mozarteum, Salzburg, Austria, Manhattan School of Music (US), Columbia University (US), Stony Brook University (US), and Cambridge University (UK). She is a licensed phlebotomist, and a HIPAA educator, and speaks twelve languages. She is the mother of a daughter with an unrelated rare disease. In her role at the SDS Alliance, she manages the Adult SDS Patient Council, and finds, engages, and supports adult patients worldwide. We invite all adult SDS patients to participate and join the Adult SDS Patient Council. Joyce Fitz Youth Ambassador, SDS Alliance Joyce is a high school student living with SDS. She is a patient advocate passionate about various causes related to health, with ambitions to pursue a career in healthcare. She is also a talented singer, and a lover of horses and horse back riding. We can't wait to see where her journey will take her less, and the impact she will make with her advocacy efforts. SDS Medical and Scientific Advisory Board Lisa McReynolds Alan Warren Tim Olson Timothy S. Olson, MD, PhD Assistant Professor of Pediatrics, University of Pennsylvania (UPENN); Director of The Children’s Hospital of Philadelphia (CHOP)/UPENN Comprehensive BMF Center (CBMFC); Attending Physician in the Blood and Marrow Transplant Program at CHOP. Dr. Olson’s career is dedicated to clinical care for patients with acquired and inherited bone marrow failure syndromes (BMF) - including Shwachman-Diamond Syndrome - and conducting basic, translational, and clinical research investigating disease mechanisms and methods to improve treatment for these patients. He is an Assistant Professor of Pediatrics at the University of Pennsylvania (UPENN), a Director of The Children’s Hospital of Philadelphia (CHOP)/UPENN Comprehensive BMF Center (CBMFC), and an Attending Physician in the Blood and Marrow Transplant Program at CHOP. Dr. Olson's clinical efforts focus on pediatric hematopoietic stem cell transplantation (HSCT), with a specific emphasis on HSCT for patients with inherited and acquired bone marrow failure. Through his combined clinical activities in the Bone Marrow Failure Center within the Division of Hematology and the Blood and Marrow Transplant Section within the Division of Oncology, his goal is to facilitate outstanding care for patients with inherited bone marrow failure and acquired aplastic anemia during their transition from diagnostic evaluation to treatment through HSCT. In coordination with these clinical efforts, his clinical research program seeks to retrospectively and prospectively assess HSCT outcomes for patients with inherited and acquired bone marrow failure syndromes and other non-malignant hematologic conditions, including sickle cell disease and thalassemia major. He is the lead/site Principal Investigator of several investigator-initiated and multicenter clinical trials of HSCT for these diseases, for which the ultimate goal is to define optimal approaches to transplant timing, donor choices, and graft engineering. The goal of his laboratory research program is to improve HSCT outcomes by identifying methods to decrease the incidence of graft failure following HSCT, which is a particularly critical challenge in the setting of transplant for non-malignant conditions such as bone marrow failure. Methods are being examined to enhance donor hematopoietic stem cell engraftment efficiency following HSCT through enhancement of the functions of specialized areas of the bone marrow microenvironment, known as hematopoietic stem cell niches. Currently, therapeutic strategies are being tested that can be applied to enhance niche activity and receptivity for donor stem cells, which would in turn improve donor engraftment efficiency following clinical HSCT. Kelly Jo Walkovich, MD Associate Professor, Pediatric Hematology/Oncology; Executive Chair of NICER; Director of the Immuno-Hematology Comprehensive Clinic; University of Michigan, C.S. Mott Children's Hospital; Ann Arbor, MI, USA Dr. Walkovich is a pediatric hematologist-oncologist for the University of Michigan Health System. She received her medical degree from the University of Michigan and completed her residency at the Children’s Hospital of Philadelphia and a fellowship in hematology/oncology at the University of Michigan Health System. She oversees the care of multiple SDS patients in her region and ensures that they receive state-of-the-art care. Dr. Walkowitch launched the North American Immuno-Hematology Clinical Education & Research (NICER) Consortium and is now the Executive Chair. Spanning over 12 member medical institutions, the mission of the NICER consortium is to provide a collaborative multidisciplinary environment to advance the education, clinical care, and research involving pediatric and adult patients with immuno-hematologic disorders, including bone marrow failure disorders such as Shwachman-Diamond Syndrome. Some of the goals of NICER include leveraging the pooled, diverse resources of the members to create a platform for clinical trials, basic science, and translational research with the development of a clinically annotated database, biorepository and network of member centers unified via a central IRB, and partner with academic societies, institutes and patient-centric nonprofit like the SDS Alliance with mutual objectives, to empower the educational initiatives and accelerate research discoveries in areas related to immuno-hematology. Lisa McReynolds, MD, PhD Assistant Clinical Investigator, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, USA Lisa J. McReynolds, M.D., Ph.D., joined the Clinical Genetics Branch of the National Cancer Institute (NCI) in 2016. She earned her M.D. and Ph.D. at Albert Einstein College of Medicine, where she studied cell signaling in a zebrafish model of hematopoiesis. Dr. McReynolds then completed a residency in pediatrics at Morgan Stanley’s Children’s Hospital of New York-Presbyterian Hospital and fellowship through the joint program of Johns Hopkins University and NCI, followed by a clinical and postdoctoral research fellowship at the National Institute of Allergy and Infectious Diseases (NIAID) focused on GATA2 deficiency, an inherited bone marrow failure and immunodeficiency disorder. As a clinical fellow under the mentorship of Sharon A. Savage, M.D., Director and senior investigator, CGB, she focused on gene discovery and genome characterization in marrow failure patients in the inherited bone marrow failure cohort. Currently, Dr. McReynolds focuses on inherited predisposition to hematopoietic malignancies, in particular Shwachman-Diamond syndrome, incorporating genomics with epidemiology to understand their causes. Her research utilizes the Inherited Bone Marrow Failure Syndrome (IBMFS) and Transplant Outcomes of Aplastic Anemia (TOAA) cohorts to investigate the effect of both germline and somatic mutations on disease and transplant outcomes. She also studies the prevalence of pathogenic germline variation and the penetrance of disease in hematological malignancy predisposition syndrome genes in the general population. Professor Alan Warren Professor of Haematology, Cambridge University Hospitals, UK NHS Foundation Trust Professor Warren obtained his undergraduate degrees in Biochemistry (1983) and Medicine (1986) at the University of Glasgow. He completed his PhD in Molecular Biology in 1995 in the laboratory of Dr. Terry Rabbitts at the MRC Laboratory of Molecular Biology where he discovered that the LIM-only protein Lmo2 is required for haematopoiesis. He is currently Professor of Haematology at the University of Cambridge, UK, Clinical Lead for Bone Marrow Failure and Myelodysplastic Syndromes at Cambridge University Hospitals, and elected Fellow of the Academy of Medical Sciences in 2005. His lab is focused on ribosome biology and the clinical impact of its defects. Ribosomes are the universally conserved macromolecular machines that decode the mRNA to make proteins. Defects in the ribosome assembly process cause the 'ribosomopathies', a fascinating new group of human developmental disorders that perturb hamatopoietic stem cell function and promote progression to bone marrow failure, myelodysplastic syndrome and acute leukaemia. Professor Warren's lab discovered that defective assembly of ribosomes, the machines in all our cells that make protein, causes Shwachman-Diamond syndrome. Alyssa Lee Kennedy, MD, PhD Principle Investigator, and Assistant Faculty Member, Department of Hematology, St. Jude Children's Research Hospital Dr. Kennedy is a pediatric oncologist who received both her MD and PhD from Drexel University College of Medicine in Pennsylvania. She then completed a residency in pediatrics at the Boston Combined Residency program under Dr. Akiko Shimamura's mentorship, followed by a pediatric hematology/oncology fellowship at the Dana-Farber Cancer Institute/Boston Children’s Hospital where she published key research on clonal hematopoiesis in Shwachman-Diamond Syndrome in collaboration with Dr. Coleman Lindsley. Dr. Kennedy is interested in understanding the mechanisms of leukemogenesis in bone marrow failure syndromes in order to better prognosticate for patients and develop novel therapies, with a focus on Shwachman-Diamond Syndrome. In addition to her research, Dr. Kennedy actively sees both bone marrow failure and hematologic malignancy patients as a member of the Department of Hematology, and is the main physician following and taking care of Shwachman-Diamond Syndrome. Kenichiro Watanabe, MD, PhD Head, Department of Hematology and Oncology, Shizuoka Children’s Hospital Vice president, Shizuoka Children’s Hospital Dr. Watanebe is the Head of the Department of Hematology and Oncology, and Vice President at Shizuoka Children’s Hospital. He received his medical degree from Kyoto University and worked in the department of Pediatrics in Kyoto for many years. He completed a research fellowship in the Department of Hematology and Oncology at the Hospital for Sick Children, Toronto, right around the time that the main gene for Shwachman-Diamond Syndrome, SBDS, was discovered by Dr. Johanna Rommens' group at Sick Kids, which sparked his interest in SDS. He holds many prestigious memberships in professional groups, including Member, Hereditary Bone Marrow Failure Study Group, Research Program on Rare and Intractable Diseases, Ministry of Health, Labour and Welfare (MHLW), Japan; Steering Committee Member, Japan Pediatric Aplastic Anemia/Myelodysplastic Syndrome Treatment Study Group; Councillor, the Japanese Society of Pediatric Hematology/Oncology; and Member, International Society of Paediatric Oncology (SIOP). Most recently, he has played a key role in supporting the blossoming SDS patient community through webinars and outreach to families and colleagues. Christian Brendel, PhD Assistant Professor of Pediatrics at Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA Dr. Christian Brendel is Assistant Professor of Pediatrics at Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Harvard Medical School. Dr. Brendel’s research focuses on gene therapy for inherited diseases of the blood system. He contributed to the development and clinical translation of lentiviral gene therapies for X-CGD and Sickle Cell Disease, and his current research includes genome editing and the design of new delivery tools to make future gene therapies safer, more effective, and accessible, with the current focus on developing therapeutic options for Shwachman-Diamond Syndrome. He has been a wonderful partner and advisor to us, sharing his insights into possible strategies and roadblocks for gene therapy for SDS, as well as sharing his insights with patients at meetings. He works in close collaboration with Dr. David Williams' laboratory, the SDS registry, and multiple investigators in the area. Johnson Liu, MD Professor of Medicine, Hematology & Medical Oncology; Section Head Hematology, Division of Hematology & Medical Oncology. Mount Sinai, New York, USA Johnson M. Liu, MD, is Professor of Medicine (Hematology and Medical Oncology) and Section Head for Hematology within the Division of Hematology and Medical Oncology. Prior to joining Mount Sinai, Dr. Liu was at Maine Medical Center, where he held the Conley Family Endowed Chair in Hematology and served as Division Director of Hematology. His career has taken him to the National Heart, Lung, and Blood Institute; Albert Einstein College of Medicine; and the Zucker School of Medicine at Hofstra/Northwell, where he held the Les Nelkin Endowed Chair in Pediatric Oncology. He also was Associate Professor of Medicine and Director of Research with the Stem Cell Transplantation Program at Mount Sinai from 2002 to 2005. Dr. Liu's research interests include molecular hematopoiesis and development, gene and cell therapy, bone marrow failure syndromes, genetic blood disorders, and transition of patients from pediatric to adult medicine. Dr. Liu joined Maine Medical Center and MaineHealth Cancer Care in Portland in 2019, Maine, after serving as an attending physician at Monter Cancer Center, Long Island Jewish Medical Center, New York, for many years. He taught at the Zucker School of Medicine at Hofstra/Northwell, leading the hematology curriculum. He earned his MD degree from the University of Michigan Medical School and completed his residency at the Medical University of South Carolina and the National Institutes of Health. Dr. Liu was also a medical and hematology fellow and investigator at the National Institutes of Health, Bethesda, Maryland. His clinical interests include general hematology (anemia, thrombocytopenia, disorders of coagulation), bone marrow failure syndromes, myelodysplastic syndromes, acute and chronic leukemia, and multiple myeloma. He has played an instrumental role in the 2011 International SDS Congress and publishing the consensus guidelines for the diagnosis and treatment of Shwachman-Diamond Syndrome (see here), and has been caring for multiple adult SDS patients while practicing in NY. Yigal Dror, MD Head of the Haematology & Director of the Marrow Failure and Myelodysplasia Program at Sick Children, Toronto, Canada Dr. Yigal Dror is the Head of the Haematology Section and Director of the Marrow Failure and Myelodysplasia Program, senior scientist at the Genetics and Genome Biology Program at The Hospital for Sick Children, Toronto, and a member of the Institute of Medical Sciences at the University of Toronto. Dr. Dror graduated from the Hadassah Medical School of the Hebrew University in Jerusalem, and completed pediatric residency in Kaplan Hospital, Rehovot, Israel. He completed clinical fellowship in pediatric hematology/oncology and a post-doctoral research fellowship in the field of hematopoiesis and marrow failure syndromes/myelodysplasia at SickKids hospital, Toronto. In 2000 Dr. Dror assumed his current position as a clinician scientist at SickKids. His main clinical interests are in the area of bone marrow failure and myelodysplastic syndrome, in particular Shwachman-Diamond Syndrome (SDS). His research focuses on characterization of stem cells and blood cells in these conditions, genetic etiologies and clinical outcome. He heads the Canadian Inherited Marrow Failure Registry. Dr. Dror’s lab focuses on various signaling pathways in SDS and other inherited bone marrow failure syndromes (IBMFs), including originating from ribosomal and telomere defects. The main SDS gene (SBDS) was identified by Dr. Johanna Rommens at SickKids, and Dr. Dror later also identified DNAJC21 as the second gene associated with SDS. His lab showed that IBMFS are associated with high risk (37%) of clones/MDS/AML in childhood, and found that SDS marrows are characterized by stromal dysfunction, increased angiogenesis and abnormal leukemia-gene expression in marrow progenitor cells. Professor Marc Raaijmakers Professor of Hematology, Erasmus MC Cancer Institute, the Netherlands Prof. Dr. Marc H.G.P. Raaijmakers, MD, Ph.D. is a professor of Hematology in the Department of Hematology at the Erasmus MC Cancer Institute, Rotterdam, the Netherlands. He received his MD from the University Utrecht and completed training in Internal Medicine and Hematology at the Radboud University Hospital in Nijmegen, the Netherlands. He completed postdoctoral research at the Department of Stem Cell and Regenerative Biology at Harvard University and the Harvard Stem Cell Institute, revealing a concept of niche-induced oncogenesis in the hematopoietic system. He (co)-authored papers in leading journals including Nature, Cell, Cell Stem Cell, J. Exp. Med, Blood and Leukemia, served in the editorial boards and provided numerous invited lectures at international meetings, including the European and national societies of Hematology (U.S.A., France, Germany, Spain and Japan) as well as multiple sessions of the International Shwachman-Diamond Syndrome Congress. He chairs the expertise center on Leukemia Predisposition Syndromes at the Erasmus MC Canncer institute and the EHA scientific working group on Rare Hematological Blood Cancers. His laboratory studies micro-environmental contributions to the pathogenesis of hematopoietic disease with an emphasis on the initiation and evolution of preleukemic disorders. He published several articles on Shwachman-Diamond Syndrome and lead the efforts for the development of several SDS research models. His clinical focus is in bone marrow failure syndromes and acute myeloid leukemia. Strategy & Therapy Development Advisory Board Dr. Vanessa Merker Dr. Vanessa L. Merker, PhD Director of Research, The Family Center for NF & SWM at Massachusetts General Hospital, and Assistant Professor of Neurology, Harvard Medical School Dr. Merker is a health services researcher committed to improving healthcare delivery for people with rare diseases by leveraging information collected directly from patients and their family members. Her research is focused on improving the accessibility, quality, and patient-centeredness of care for patients with rare diseases like NF and other cancer predisposition disorders. She uses qualitative and mixed methods to understand patients’ healthcare needs and experiences; develops and analyzes patient-reported outcome measures for use in clinical trials; and she engages patients as partners in the design and conduct of her research. Joe Katakowski, PhD Director of Research at the RTW Foundation Joe Katakowski, Ph.D., is responsible for leading the development strategy and internal R&D efforts for projects within the RTW Foundation portfolio. Prior to joining RTW Foundation, Joe was a staff scientist at Regeneron where he led a team focused on preclinical development of gene therapies and AAV vector engineering. Before Regeneron, Joe was a principal scientist at Pfizer where he developed and led multiple immuno-oncology programs from early-stage discovery up to IND application, working with a diverse array of modalities including lipid/polymeric nanoparticles, PROTACs, ADCs, antibodies, and small molecules. Prior to Pfizer, Joe was a senior scientist at Innovimmune, a biotech startup. During his PhD, Joe developed unique delivery technologies for nucleic acid-based drugs, seeking to modulate immune responses for autoimmune and oncology indications. His PhD work led to two separate first author publications in Molecular Therapy, as well as additional publications throughout his research career. Joe has a BS in human biology from Michigan State University, a MS in cellular & molecular biology from Eastern Michigan University and a PhD in immunology & biomedical sciences from the Albert Einstein College of Medicine. Cathleen (Cat) Lutz, Ph.D., M.B.A. Vice President, Rare Disease Translational Center, The Jackson Laboratory Cat Lutz, Ph.D., M.B.A. is the Vice President of the Rare Disease Translational Center at The Jackson Laboratory (JAX). With 25 years of experience in mouse genetics, Dr. Lutz has focused her research efforts on patient organizations and families diagnosed with rare diseases. The JAX Rare Disease Translational Center incorporates precision mouse models and broad-based drug efficacy testing to support IND enabling studies. She serves as the Principal Investigator of multiple NIH sponsored programs including the Center for Precision Genetics, The Somatic Cell Genome Editing Center, and Mouse Mutant Research and Resource Center. As a neuroscientist by training, Dr. Lutz has worked on models of the central nervous system such as Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis and Friedreich’s Ataxia. Dr. Lutz was recently awarded a 2021 Rare Impact Award by the National Organization for Rare Disorders. Danielle Boyce, MPH, DPA Principal Investigator, Real World Evidence at ALS Therapy Development Institute. Faculty at Johns Hopkins University, with affiliations at the University of Calgary and Emory University. Danielle Boyce, MPH, DPA, has a master’s in public health with a concentration in epidemiology and a doctorate in public administration. She is a veteran biostatistician, data scientist, and informaticist with more than 25 years of professional experience including more than a decade at Johns Hopkins University. Danielle has held advisory roles for the Food and Drug Administration, the Centers for Disease Control and Prevention, the Critical Path Institute, the Patient-Centered Research Outcomes Institute (PCORI), the International League Against Epilepsy, and dozens of patient advocacy groups and communities. Her research interests include rare and neurodegenerative diseases. Danielle Boyce, MPH, DPA, is an award-winning rare disease advocate, researcher, public speaker, and writer. Her work has appeared in dozens of scientific journals and her children’s book, Charlie’s Teacher, is used in children’s hospitals throughout the country.

A community resource for patients and experts in Japan for Shwachman-Diamond Syndrome (SDS). Fundraiser October 2020 SDS Community in Japan 日本のSDSコミュニティ Resources for families and professionals 家族や専門家向けのリソース 2025 年度 SDS 交流会2 暑さ厳しい季節ですが、皆様いかがお過ごしでしょうか。 4 月に初めてのシュワッハマン・ダイアモンド症候群(SDS)交流会を開催したところです が、渡邉先生・Eszter 先生のご厚意で 2 回目の交流会を開催する運びとなりました。 今回は、6 月にアメリカで行われました SDS の学会・交流会(International Congress on SDS)について渡邉先生からご報告をいただきます。また、Eszter 先生か らは、アメリカなどでの患者家族と医療スタッフとの交流の仕方についてお話いただく予定です。 お忙しい中とは存じますが、貴重な機会ですので皆様ぜひご参加いただければ嬉しいです。 日時:9 月 20 日(土) AM10:00-11:00 講師: 渡邉健一郎先生(静岡県立こども病院 血液腫瘍科 科長) Eszter Hars, Ph. D.(Shwachman-Diamond Syndrome Alliance 創設者兼 CEO) 参加者:SDS の当事者の方、ご家族の方、関係者の皆様 Zoom にて行います。参加は無料です。 お申込み ミーティング登録 - Zoom (https://zoom.us/meeting/register/-x00wKM4Rg-X-2RLQ1gXvQ ) ↑こちらにご登録ください。 Community in Japan | Shwachman-Diamond Syndrome Alliance (http://www.sdsalliance.org/japan) ↑もしくは、上記サイトの申し込みフォームから登録をお願いいたします。 締め切り:9/18(木)まで お問合せ japan@sdsalliance.org (担当:sanaki) 当事者家族のため、プライバシーの観点からニックネーム記載としております。個別のお問合せには本名 でお返事いたしますので、ご了承ください。 お申込み Join us for the first community webinar シュワッハマン・ダイヤモンド症候群（SDS） April 26, 10 AM (Zoom) 4月26日（土）AM10:00-11:00 シュワッハマン・ダイヤモンド症候群（SDS） 相談会・お話会 専門家のお二方を交え、普段気になっている治療のこと、生活のことなど、一緒にお話 この会を、日本のSDSの当事者の方・ご家族の方同士が繋がるきっかけにしたいと思っしてみませんか？ ています。 ぜひお気軽にご参加ください！ ウェビナーの講演者: 静岡県立こども病院　血液腫瘍科　科長 渡邉　健一郎先生 Shwachman-Diamond Syndrome Alliance創設者　兼　CEO Eszter Hars, Ph. D. お問い合わせアドレス: japan@sdsalliance.org 担当:Sanaki* * 当事家者族のため、プライバのシ面かーらニックネ ムの記載としておりますが、個別のお問い合わせには本名でお返事いたします。ご了承ください。 お申込み SDS Patient and Family Stories in Japan 日本のSDS患者と家族の物語 sanakiさん の物語 お子さんが生後10か月の頃にシュワッハマン・ダイアモンド症候群と診断。現在1歳8か月。 sanakiさんご自身は会社員として育休を取得中。 就園のハードルの高さ、同じ疾患を持つ方とつながることの難しさを感じている。 Sanaki のストーリーを読む Sanaki へのメール What is SDS? This information is currently available in English, but we plan to translate it to Japanese for your convenience soon. What other information would you like to access in Japanese? Please let Sanaki know at japan@sdsalliance.org . What is SDS? What is the SDS Alliance? Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a US-based 501(c)(3) nonprofit organization serving the global SDS community to improve and save the lives of people affected by SDS by focusing on research and therapy development. Roadmap Who is part of the SDS Alliance community? Patients and their families from around the world! From every continent and region. We are very happy to welcome families from Japan, too. Doctors and other healthcare providers Researchers at academic and medical institutions, biotech and pharmaceutical companies who are interested in developing treatments for us And many other stakeholders , such as testing providers, regulators, and more. Our Team

Our work would not be possible without your financial support. We make it simple to make a gift through our online donation tools and more. Your Donation Saves Lives Donate Securely with Credit Card, ACH, or PayPal Give One Time or Monthly Join our Monthly Giving Allies : your monthly contribution will support our work year-round — ensuring that we can maintain our ongoing efforts to make SDS research possible and efficient. To set up a regular donation, select the “Monthly” option on the form on this page, or the Monthly Giving Allies campaign page . You can cancel or make changes anytime. Click here to open the donation form in a new window in case the embedded form is not working for you. donate Double Your Impact Employer Matching Many corporations match employee donations to nonprofit organizations — meaning your gift to SDS Alliance could be doubled, or even tripled, at no extra cost to you. It takes about five minutes. Search for your company using the tool below, and follow your employer's instructions to submit a match request. SDS Alliance is a registered 501(c)(3) nonprofit, and we will provide any documentation your employer needs. Charity Navigator employer matching search lets you Search for your company → Not sure if your company participates? Ask your HR department or check your employee benefits portal. Many people are surprised to find their employer offers this benefit. Questions? Email us at gifts@sdsalliance.org — we are happy to help. Employer-gift-match Monthly Giving Allies is our new community-powered monthly giving circle. It brings together families, caregivers, friends, and supporters who want to help accelerate research, strengthen advocacy, and advance therapy development for Shwachman-Diamond Syndrome. Monthly giving isn’t about the amount. It’s about being counted. When many families give even a small amount each month, it shows researchers, funders, and biotech partners that the SDS community is large, united, and determined to push for progress. Every Ally strengthens our collective voice. Every gift fuels the mission to #CureSDS. Every action takes us closer to Clinical Trials by 2030. Every contribution enables us to give SDS patients more birthdays to celebrate. Why Monthly Giving Matters * Helps fund long-term, high-impact research projects * Demonstrates community strength to funders and scientific partners * Supports therapy development initiatives * Provides predictable, reliable funding * Shows unity and determination within the SDS community Small monthly gifts add up — because there is Strength in Numbers to #CureSDS. Go to Monthly Giving Allies Form Learn More Fundraise with an Event & Personalized Webpage Set up a personalized fundraising page on our GiveLively donation platform , by clicking the "Start a Fundraiser" button on any of our fundraising pages or here . All donations go into the SDS Alliance bank account, and donors receive an automatic receipt right away. You can create fundraisers for any special occasion or to increase your impact at any time of the year. Email gifts@sdsalliance.org for help. We will be happy to assist. Fundraising Tips Download Guide Donate or Fundraise through Facebook We are an approved charity on Facebook. Visit our Facebook page at www.facebook.com/SDSAlliance and use the "Donate" button at the top, donate to an existing fundraiser benefiting us, or create your own personalized fundraiser. Send a Check in the Mail If possible, please give us a heads about your check and confirming the address by emailing us at gifts@sdsalliance.org., so we can keep an eye on it and ensure that you receive a receipt and heartfelt thank you in a timely manner. Make checks payable to Shwachman-Diamond Syndrome Alliance. Send to: Shwachman-Diamond Syndrome Alliance PO Box 2441, Woburn, MA 01888, USA. Wire from Your Bank Please contact us at gifts@sdsalliance.org for details. Use Your Donor Advised Funds New! Our donation form at the top of this page, managed by GiveLively, now offers DAF as an option during checkout. On all our campaign pages. It uses DAFpay by Chariot to securely connect to your Donor-Advised Fund (DAF). After selecting that option, you’ll be asked to log in to your DAF provider. Learn about DAF grants through Give Lively. Open GiveLively Donation Form Alternatively, we also partnered with Every.org to process DAF donations. If you use a Donor Advised Fund (DAF), your receipt from Every.org will not be tax-deductible as the tax deduction was already received at the time you contributed to your DAF. For any other payment method, you will get a tax-deductible receipt emailed to you. Your donation is made to Every.org, a tax-exempt US 501(c)(3) charity that grants unrestricted funds to Shwachman-Diamond Syndrome Alliance Inc on your behalf. As a legal matter, Every.org must provide any donations to Shwachman-Diamond Syndrome Alliance Inc on an unrestricted basis, regardless of any designations or restrictions made by you. FAQ How does Every.org accept my donation? Your donation is made to Every.org, a US 501(c)(3) public charity. Every.org will immediately send you a receipt by email. On a weekly basis, Every.org grants to Shwachman-Diamond Syndrome Alliance Inc. This process ensures your eligibility for a tax deduction, enables you to consolidate your gift records, and reduces the burden on Shwachman-Diamond Syndrome Alliance Inc. Are there any fees? We do not charge any fees to accept DAF gifts, and currently cover all the Chariot fees. Every.org does not charge any platform fee of our own, because we are a nonprofit. Instead, we rely on the generosity of donors to fund our mission of philanthropy for everyone. Will I receive a tax-deductible receipt for my donation? If you use a Donor Advised Fund (DAF), your receipt from Every.org will not be tax-deductible as the tax deduction was already received at the time you contributed to your DAF. For any other payment method, you will get a tax-deductible receipt emailed to you. Open Every.org DAF Donation Form crypto Donate Crypto (NEW) We partnered with Every.org to process Crypto donations. Your donation is made to Every.org, a US 501(c)(3) public charity. Every.org will immediately send you a receipt by email. We then partner with PayPal Grants to grant to Shwachman-Diamond Syndrome Alliance Inc on a monthly basis (or semiannually for balance under $100). This process ensures your eligibility for a tax deduction, enables you to consolidate your gift records, and reduces the burden on Shwachman-Diamond Syndrome Alliance Inc. Are there any fees? Our exchanges generally charge a 1% flat fee to automatically liquidate cryptocurrency. Every.org does not charge any fees of our own. Open Crypto Donation Form Planned Legacy Gifts & Bequests You can leave a legacy while at the same time supporting the mission of the SDS Alliance. We are committed to making your gift meaningful to you. A bequest through your will allows you to designate a specific dollar amount or a percentage of your estate to SDS Alliance. A bequest may reduce the amount of your taxable estate, which may increase the actual amount available to loved ones. Please talk to your attorney or financial advisor to determine the best way to include us in your estate plans. Contact us at connect@sdsalliance.org or +1-617-329-1838. Stock and IRA Charitable Giving Gifts of Stock that have been held for more than 12 months offer two-fold tax savings: a tax deduction for the full fair market value of the stock on the date of the gift and capital gains can be avoided. Please talk to your tax or financial advisor. Individual Retirement Account (IRA) owners over age 70½ may make a transfer of up to $100,000 per year to qualified charities, including Shwachman-Diamond Syndrome Alliance. IRA charitable rollovers are tax-free and not included in adjusted gross income. An IRA charitable rollover may fulfill part or all of your required minimum distribution (RMD). For more information on making an IRA contribution please talk to your tax or financial advisor. Personalized Memorial Page Every life should be celebrated and every loved one should be remembered. Creating a personalized memorial page in loving memory of a loved one is a way to remember those who have recently passed and a way to provide a dedicated link for friends and family to make a donation. You can personalize this page with text and a photo. As long as the page remains active, you can continue to use it to invite gifts in memory of your loved one. To create a personalized memorial page, use our donation platform and click "I want to fundraise for this" as described above. Or, contact us at connect@sdsalliance.org or call us +1-617-329-1838 for assistance. For any questions or comments, please email us at gifts@sdsalliance.org

Join the network of professionals, doctors, researchers, patients, and caregivers to drive the development of therapies and to #CureSDS. Join the SDS Alliance Collaborative Research Network to #CureSDS Thank you for your interest in joining us to work toward therapies and cures for Shwachman-Diamond Syndrome, together. The key to this disease is within each patient and their caregivers (family & loved ones). By collaborating with all stakeholders within the community, we can unlock the unknowns and achieve our mission to improve all patients' lives. There are many ways to help. Please join all opportunities that are right for you . SDS Patients & Families Join our mailing list to receive our newsletter and timely updates. You can unsubscribe anytime. Join SDS-GPS to share your experience and drive research! SDS-GPS is a survey platform that makes it easy to fill out surveys and share relevant information while protecting your privacy. It's IRB-approved and data protection compliant. And, you can see how your answers compare to others. Join our peer groups : We have an active Facebook group called the Action Team and a monthly virtual call for families with a genetic diagnosis, as well as a call for adults with SDS (as part of the Adult SDS Patient Council ). Join our Mailing List Join Join our Peer Communities Physicians & Researchers Join our mailing list to receive our newsletter and timely updates. You can unsubscribe anytime. Apply to join our Medical and Scientific Advisory Board or Strategy and Method Expert Advisory Board. Email us at connect@sdsalliance.org Join our Mailing List Email Us Community Supporters & Volunteers Want to follow and support the fight to #CureSDS? Join our mailing list to receive our newsletter and timely updates. You can unsubscribe anytime. Joining provides access to our newsletters, research progress, and updates on our fundraising opportunities and annual events. Do you have a passion for improving the lives of SDS patients and their families? Do you have free time and/or a special skill or talent? Consider volunteering to move our work forward. The SDS Alliance Network is comprised of physicians, researchers, patients, loved ones, and life-science students. Our organization would not be successful without the hard work and dedication of so many people who volunteer their time to help us fight for therapies and cures. If you are passionate about SDS and want to help us advance our life-saving research by joining our team, email us at connect@sdsalliance.org . Join our Mailing List Email Us

The SDS Alliance understands how rare disease research is most efficiently conducted. Instead of passively soliciting researchers for ideas,we are actively identifiying projects that are key to therapy development, seeks out the best experts to do the work, and coordinates the efforts to deliver results. The investments we make are highly strategic and aimed at leveraging NIH grants and enabling additional projects. Let's #CureSDS together. Strategy & Roadmap Collaboration is not enough. Therapy development needs coordination to achieve results. That's how we drive progress, together. Unlike foundations in the past, we understand how rare disease research is most efficiently conducted. Instead of passively soliciting researchers for ideas or funding a favorite without a plan or proper agreements, we invest strategically. We actively identify projects that are key to SDS therapy development, find the best experts to do the work, and coordinate the efforts to deliver results. We value your donations more than the face value, as we know it's personal. We invest only in critical projects that have the potential to accelerate therapy development and leverage large NIH grants and other funding whenever possible. For example, our mouse project is leveraging substantial NIH funding through the Jackson Laboratory and will provide a critical tool for a wide range of therapy development projects. We believe that this strategy is the most effective way to generate results that matter to us, the patient community. Quick Video overview of WHAT we do and WHY. Timeline of impact your support made possible Pipeline of Therapies for Shwachman-Diamond Syndrome. The Programs We Follow and Support. Your support has impact . See the progress with timelines and costs. Our SDS therapy development roadmap includes a wide range of initiatives and projects driven by us, with your support. We welcome researchers, patient advocates and organizations, and biotech companies to join our efforts toward developing therapies for SDS. This is a living document that we update and refine regularly. Costs and timelines are estimates. MOUSE AND OTHER PRECLINICAL MODELS – ACTIVE Goal: a mouse and/or other models that reflect the genetics of human SDS and reproduce SDS phenotypes, to enable therapy development based on various strategies, such as gene-targeted approaches, small molecules, and drug repurposing. Programs/Activities: ACTIVE The initial focus is a mouse model humanized with the splice site mutation and flanking regions. Status: Mouse model development launched , meet the development team , phase 1 complete ACTIVE A pilot study for an alternative mouse model project has launched. Time frame: 1-2 years for building and initial characterization, 3-4 years for characterization of malignancy predisposition Cost: $300,000 ($150,000 covered by The Jackson Laboratory/NIH funding) iPSC AND OTHER PATIENT DERIVED CELL LINES (BIOBANK) – EXPANDING Goal: Patient cell lines available to researchers anywhere in the world, to test and develop various SDS therapies. Programs/Activities: LIVE Cell line types include Lymphoblastoid Cell Lines (LCLs), fibroblasts, and Induced Pluripotent Stem Cells (iPSCs). De-identified clinical information associated with the samples. Samples are processed, stored, and distributed by the Coriell Institute. Goal of 25-50 patients enrolling, covering various ethnic backgrounds, and the whole range of SDS mutations. Status: SDS Cell Biobank pilot complete, SDS Cell Biobank launched, iPSCs development launched , isogenic pair created Time frame: 2-4 years Cost: $150,000 (Leveraging $75,000 covered by Corielle Institute/NIH funding, and a grant from UPenn ODC) GLOBAL DATABASE / PATIENT DATA HUB – ACTIVE Goal: Critical for determining therapeutic endpoints for clinical trials; Global participation and access to data Programs/Activities: LIVE Survey Platform for patient-reported data and collaboration: SDS-GPS Genotype/phenotype correlation and identification of new SDS genes and mutations using Whole Exome and Whole Genome Sequencing (WES/WGS) LIVE Diagnostics support for patients (through cost assistance, a global network of knowledgeable physicians, and inclusion of SDS on all relevant panels). Get tested! Cost: $100,000 per year (leveraging grants; $10,000 diagnostics support covered by charity partners) NETWORK DEVELOPMENT AND CLINICAL TRIAL READINESS – IN PROGRESS Goal: Facilitating clinical trial planning, initiation, and regulatory agency engagement Programs/Activities: Obtaining and promoting ICD-10 (and ICD-11) codes for SDS. LIVE Our ICD-10 code application in the US has been successful and approved by the CDC. See Press Release and ICD Resource Page Engaging with regulatory agencies (i.e. FDA) DONE FDA CBER OTAT Patient-Focused Drug Development Listening Meeting Two additional meetings were completed in 2024 DONE MAJOR EVENT: EL-PFDD for Shwachman-Diamond Syndrome conducted on June 4, 2025 . Continued patient community and research network building LIVE Patient-focused educational resources, including research updates (Ask an Expert webinars), blog posts , website resources, conferences (SDS POPS) , and more) LIVE Patient community connections (Monthly Community Coffee Chat , closed Facebook groups, and more) LAUNCHED Project PACER to build capacity for CER for SDS . Time frame: 2-3 years to build, then ongoing Cost: $100,000 (leveraging grants, PCORI, and industry funding) GENE TARGETED THERAPY DISCOVERY AND DEVELOPMENT – ACTIVE Goal: Getting pre-clinical work ready for translation into clinical application (therapies for patients) ACTIVE Gene editing, base editing, prime editing. Testing and optimizing lead candidates on mouse model from above. (Drs. Brendel and Baurer at Boston Children's Hospital, USA) IN PROGRESS Stop-codon read-through / nonsense suppression (Drs. Cipolli and Bezzerri, Verona, Italy) PAUSED Antisense Oligonucleotide Therapies (ASOs) and other RNA-based therapies. Discovery, testing, and optimizing of lead candidates on mouse model from above. Time-frame: 3-5 years (from discovery to pre-clinical and proof-of-concept work) $2 million (funded in large part by the Principal Investigators (PI) through NIH funding and biopharma industry) DRUG DISCOVERY AND DEVELOPMENT – IN PROGRESS Goal: Getting pre-clinical work ready for translation into clinical application ( therapies for patients) PAUSED Small-molecule screening to find compounds that counteract the ribosome assembly defect in SDS. Test and optimize lead candidates on the mouse model from above. (Dr. Allan Warren, Cambridge, UK) PLANNING Drug repurposing (high-throughput screening). Test and optimize lead candidates on the mouse model from above. IN PROGRESS Collaboration with EveryCure includes SDS in its screen. Time frame: 3-5 years (from discovery to pre-clinical and proof-of-concept work) $2 million (funded in large part by the Principal Investigators (PI) through NIH funding and venture capital) NEW TARGET IDENTIFICATION – PLANNING Identifying additional downstream targets using proteomics and other -omics 2-4 years $500,000 (leveraging NIH and industry funding) PHASE I (DRUG) CLINICAL TRIAL 1-2 years $1 million (leveraging NIH and industry funding) PHASE II (PILOT) CLINICAL TRIAL 1-2 years $5 million (leveraging NIH and industry funding) PHASE III CLINICAL TRIAL 3-5 years $10 million (leveraging industry funding) Why do we need models for SDS? Model systems, such as mouse models, are developed to replicate a disease in an organism other than humans. That way, researchers can investigate various aspects of disease without having to burden a human patient. Different research questions need different types of models, from yeast cells to worms to flies to mice and more. For therapy development, we need a model system that is as close as possible to humans but is practical to work with in order to save time. Mouse models have become the gold standard in research. Unfortunately, developing a mouse model for SDS has proven historically difficult, because the gene responsible for most cases of SDS, SBDS, is essential. Mice with too little SBDS are not viable, and mice with some have no SDS symptoms (phenotype). As one of our first major projects, we sat out to try all options to create a mouse model for SDS. This work is still ongoing and we are committed to leaving no stone unturned. Roadmap to Therapies and Cures for SDS 1. Build humanized mouse and other SDS models that has the most common and relevant human mutation is viable and shows relevant phenotypes designed for testing a wide range of therapeutics 2. Characterize the models how does the humanized gene behave in the model what symptoms can be observed (what, when, where) develop measurable biomarkers for testing therapies 3. Test and optimize therapies on the model gene editing, base editing, and prime editing therapies antisense oligonucleotide (ASO) and other RNA therapies small molecules and repurposed drugs 4. Safety and Efficacy Studies test efficacy and safety of discoveries on suitable models to prepare for clinical trials 5. Patient Clinical Trials present results of model work to the FDA and international regulatory agencies to proceed with clinical trials in human patients seek FDA and international approval Goal: SDS Therapies and Cures

Welcome to the SDS community. Here, you can find resources to join the community and get empowered through action. Newly Diagnosed? Welcome to the Community! You are not alone We are a global community of patients, families, physicians, and researchers, working together to give all SDS patients more birthdays to celebrate. Action cures fear An SDS diagnosis brings with it lots of emotions and uncertainty. There is no targeted therapy for SDS, yet. We are working tirelessly to change that. It takes a village and you can make a difference. Now what? There are so many opportunities for you to make a difference for your loved-one with SDS and for the community. Check out these important steps to get started. Share your experience to drive research The SDS-GPS program is the only global patient registry that collects and structures data directly from those living with SDS (and related disorders) in order to accelerate research and therapy development and connect patients with research opportunities most relevant to them. Join today . Connect with community Connect with SDS patients and families who "get it" and have your back. Check out various connection opportunities, here . Join our mailing list and follow us on social Join our mailing list Follow us on Facebook Learn about SDS Knowledge is power. Access all relevant information right here on our website. Being informed will help you be an effective partner with your healthcare team and be able to make informed decisions regarding care for yourself or your loved-one with SDS. What is SDS? The science behind SDS and the latest research advances Resources for children We developed age-appropriate educational materials for kids to learn about SDS, science, and coping skills. Kids' Corner Get your community involved in fundraising One of the most impactful ways to raise awareness and advance research is to fundraise. Check out our resources here . Or, consider a one-time or monthly donation to keep our programs going and enable us to continue making an impact and get closer to therapies and cures.

When dealing with a rare disease like Shwachman-Diamond Syndrome, it can be difficult to find a medical provider with the right knowledge and intuition to guide your care. This page is dedicated to making it easy, wherever you are. SDS Specialists and Centers of Excellence The SDS Alliance is committed to increasing the availability of clinical services for people with SDS and related conditions, decreasing the diagnostic odyssey, and increasing the standards and access to care.⁠ ⁠ Each Specialist and Center of Excellence is committed to providing exceptional care to the community through collaboration with patients and their families. They support this commitment by:⁠ ⁠ Offering multidisciplinary care to manage a broad range of symptoms. Specialties include at a minimum hematology, genetics, and GI; additional specialties may include immunology, endocrinology, orthopedics, and psychology. Supporting the transition from pediatric to adult care Committing to diagnosing using internationally peer-reviewed criteria, including pursuing a genetic diagnosis and supporting sibling testing . Facilitating access to care and education for people in underserved communities, with a focus on DEI. This includes Offering telehealth access in all geographies where it is possible. Engaging in collaborative resource sharing and networking to improve patients’ access to care, including supporting providers new to the SDS field in areas that lack access to specialty resources. ⁠Contributing and participating in SDS research and facilitating the dissemination and application of advances, including Enabling processes for each patient to engage in research activities, including Encourage all patients to sign up for the SDS-GPS program (the only Global Patient Survey and Collaboration Platform, now available in 5 languages and counting) Commitment to evidence-based care and contributing to the research ecosystem where possible, including a commitment to data sharing and publishing Demonstrate ongoing commitment to continuing education Attending key professional conferences to teach and learn, including the biannual SDS Congress, ASH, and others A demonstrated commitment to community education , such as participation in SDS POPS - the annual virtual Patient advOcacy and Partnering Summit (SDS POPS) hosted by the SDS Alliance Participation in and/or organizing of multidisciplinary case discussions Where possible, provide training opportunities for students and healthcare professionals. To nominate a center or specialist, please email us at connect@SDSAlliance.org . The list and map below are currently under construction. We have many more contacts around the world. Please reach out to us via email at connect@sdsalliance.org if you need assistance finding qualified SDS specialists near you.

An overview of why we need registries, and list of Shwachman-Diamond Syndrome focused registries from around the world, and other research opportunities. Registries & Clinical Trials Registries are the BASIS for research and therapy development. They are CRITICAL for progress in clinical care and therapy development. We encourage all patients and families to participate in all registries available in their region! See a list of registries below. Registries are collections of patient data. There are different types of registries. Some are so-called contact registries, where the primary purpose is to be able to reach patients when new research studies, clinical trials, or treatment guidelines become available. Other registries - let's call them clinical registries - collect detailed clinical data (and optionally biological samples such as blood and bone marrow) to conduct research. They may collect data over time (longitudinal data) to conduct natural history studies, which then builds a picture of how the disease progresses naturally and what kinds of complications can be anticipated, and when. The SDS community is fortunate to have dedicated physicians and researchers on our side, with several independent registries in North America, Europe, and Asia, some established over a decade ago. The list below includes some of the clinical registries that currently accept new SDS patients and have SDS focused research projects. SDS Alliance has been actively pursuing efforts to implement platforms and strategies to unite the existing registries and/or form collaborations collect and build a large, powerful set of genomic data to drive research add patient voices through a new, patient-driven, global patient survey and collaboration platform (data hub), and make all data more widely available to the larger research and transnational community. We are excited to announce that the program has come to live and is open for enrollment! SDS-GPS: a unique patient-owned and directed global effort Go to SDS-GPS All Regsitries Registries from around the world that include SDS patients Sorted in reverse alphabetical order. United States Shwachman-Diamond Syndrome Registry (SDSR) Clinical registry, collects clinical data and biological samples. Two sites: Boston Children's Hospital and Cincinnati Children's Hospital. Contact the site you are more likely to visit. In person visits are NOT required. Website: https://www.sdsregistry.org Email: sdsregistry-dl@childrens.harvard.edu Phone: (617)-355-4685 and (513) 803-7656 United States NIH NCI Inherited Bone Marrow Failure Study The NCI IBMFS Cohort Study enrolls families that have at least one member with an IBMFS. The study includes individuals with the IBMFS, their first-degree relatives (brothers, sisters, parents, and children), as well as other relatives when appropriate. There have been many medical advances as a result of the study, including the identification of several new genetic causes of IBMFS. Website: https://marrowfailure.cancer.gov/ibmfs/ Email: ncifamilystudyreferrals@mail.nih.gov Phone: (800) 518-8474 United Kingdom Biobank UK SDS UK established a BIOBANK to collect patient samples. The data registry component is coming soon. Website: TBD. Contact SDS UK for details: sdsuk.org Email: info@sdsuk.org Phone: N/A Italy Registro Italiano per la Sindrome di Shwachman-Diamond (RISDS) Clinical Registry, collects both data and biological samples. Is supported by the Italian Patient Support Group AISS http://www.shwachman.it/ Website: http://www.registroitalianosds.org/RI-SDS.html Email: info@registroitalianosds.org Phone: 045 812 3561 Global / International SDS-GPS: Global Patient Survey and Collaboration Program Global, virtual, patients self-enroll. Focused on patient reported data via surveys, available in multiple languages including English, Spanish, French, Italian, German, Website: https://www.sdsalliance.org/sds-gps Email: gps@sdsalliance.org Phone: 617-329-1838 Germany Severe Chronic Neutropenia International Registry (SCNIR) SCNIR Europe serves Germany and several other countries in Europe and beyond, and registers SDS patients along with many other neutropenia patients. Shwachman Diamond Syndrom Deutschland, the German SDS patient group, support their efforts. Website: https://severe-chronic-neutropenia.org/en Email: scnir@mh-hannover.de Phone: +49 511 557105 France French congenital neutropenia registry This registry includes patients with several types of severe chronic neutropenia, including SDS patients. The initial objective at the time of its creation is to ensure pharmacovigilance of the G-CSF received by these patients. It had nevertheless been designed as a disease registry, rather than a "post-marketing" treatment registry. The cases are identified from clinical records obtained from pediatric hematology or general and specialist pediatric departments. These centers are consulted by telephone, post or onsite monitoring. Genetics laboratories are also contacted and a work meeting is organized with them on a regular basis. Website: https://epidemiologie-france.aviesan.fr/en/epidemiology/records/french-congenital-neutropenia-registry#tab_1 Email: jean.donadieu@trs.ap-hop-paris.fr Phone: + 33 (0)1 44 73 60 62 Canada Canadian Inherited Marrow Failure Registry (CIMFR) For anyone with a bone marrow failure or myelodysplasia which is congenital or inherited, including SDS. They gather data from medical records and also act as a biobank. Can assist with diagnostics. Website: http://www.sickkids.ca/CIMFR/ Email: cimf.registry@sickkids.ca Phone: N/A Australia Aplastic Anaemia and other bone marrow failure syndromes Registry (AAR) Website: https://www.monash.edu/medicine/sphpm/registries/aar Email: aar@monash.edu Phone: 1800 811 326

Patient Advocacy and Partnering Summit. The first, global, virtual event designed to engage all stakeholders and provide meaningful education and networking opportunities to patients, scientists, medical providers, industry representatives and regulatory stakeholders. SDS POPS P atient Advo cacy and P artnering S ummit SDS POPS is evolving! Coming to Paris — in person for the first time. In May 2027, adjacent to the 12th International Scientific Congress on Shwachman-Diamond Syndrome, SDS Alliance is planning a community gathering in Paris, including an informal dinner on Saturday evening (May 29), a half-day community session on Sunday morning (May 30), and a casual family-friendly afternoon activity for those who would like to stay and explore Paris together. SDS POPS welcomes patients, families, caregivers, clinicians, and researchers to build a lasting partnership between the SDS community and the research world. Virtual attendance will also be available for those who can't join in person. Translation support and financial assistance will be available. Express your interest (3-minute survey) This is an interest form only — registration will open later. SDS POPS 2025 - Online View Recording Provide Feedback The only global, virtual meeting of its kind to provide patients, caregivers, scientists, physicians, and all other stakeholders with an opportunity to connect and discuss all things related to Shwachman-Diamond Syndrome research and advocacy. This year's focus is Gene Therapy for SDS. Catch up on last years' recordings at your convenience, and come prepared in October 2025 to engage in learning and discussions. The recordings of the 2023 and 2024 editions are now posted. View Recordings and Resources Realtime Translations Available! We serve the global SDS community - and making our content available in as many languages as possible is a high priority. We are excited to share that real-time translation of the captions will be available on Zoom for the meeting. Instructions will be shared during the meeting. Supported languages currently include: Arabic, Cantonese, Chinese (Simplified), Chinese (Traditional), Czech, Danish, Dutch, English, Estonian, Finnish, French (France), French (Canada), German, Hebrew, Hindi, Hungarian, Indonesian, Italian, Japanese, Korean, Malay, Persian, Polish, Portuguese, Romanian, Russian, Spanish, Swedish, Tagalog, Tamil, Telugu, Thai, Turkish, Ukrainian, Vietnamese Partners and Sponsors Our programs, including educational programs such as SDS POPS, are made possible through support from our donors, partners, and sponsors. Thank you for making this work possible! If you or your company would like to support our work through Sponsorships or Donations, please reach out to our development team at gifts@sdsalliance.org . Agenda Tentative, subject to change. All times in EST (New York Time) 10 am - 12 noon Session I: Therapeutic Modalities. Focus on Gene Therapy Welcome and overview Eszter Hars, Ph.D., SDS Alliance An update on Ataluren for SDS Dr. Valentino Bezzerri, Italy Gene Therapy (Prime Editing) of patient-derived HSCs for SDS Dr. Dan Bauer, BCH, Boston, US pre-recorded Measuring off-target effects in CRISPR-based gene editing Dr. Tim Barry, BCH, Boston, US iPSC-based gene editing and drug development approaches Drs. Andrew Elefanti & Elizabeth Ng, Australia) pre-recorded Trends in gene therapy: KJ's story and advances in in vivo approaches Dr. Denise Sabatino, CHOP, US 12 - 12:30 pm Break Have a snack, lunch, breakfast, or dinner, depending on your time zone. 12:30 - 2:30 pm Session II: How YOU can make a difference The phases of therapy development and pathways to success Kendall Davis, MPH, Sano Genetics The status and pipeline of SDS therapies Eszter Hars, Ph.D., SDS Alliance Challenges and Opportunities for Rare Disease Therapies from a Regulatory and Economic Perspective Joe Katakowski, Ph.D., RTW Foundation Participating in all stages of research - an update on our Voice of the Patient and PFDD project Dr. Vanessa Merker, MGH/Harvard pre-recorded Fundraising with purpose and impact . Eszter Hars, SDS Alliance Rebecca Carbin, Parent to a child with SDS 2:30 - 3 pm Screening of the SDS Documentary: "Until there's a Cure" Starring four SDS families with a deep dive into their experiences. Please note: Difficult topics are covered, including loss. Viewer discretion advised. 3 - 4 pm Global SDS Family Coffee Chat Time to connect, share, and de-brief on today's event. 4 - 5 pm SDS Adult Coffee Chat Exclusively for adults living with SDS. A continuation of our monthly adult coffee chats. Speakers at SDS POPS 2025 In order of their scheduled talks Eszter Hars, Ph.D. Founder and CEO, SDS Alliance Dr. Hars holds a Ph.D. in Molecular Biology from the University of Medicine and Dentistry of New Jersey, where she studied cancer and leukemia. She has over 20 years of experience in scientific research and the biotech industry. As VP of Regulatory Affairs at CytoVera Inc., a lab equipment developer for hematopoietic stem cell banking, Dr. Hars was in charge of regulatory approval of medical devices by the U.S. Food and Drug Administration. Dr. Hars has also managed business development as well as customer relationships at Quosa Inc., an information technology company, which was acquired in 2012 by Elsevier, the largest scientific publisher in the world. Dr. Hars has been engaged in SDS community building and volunteering wherever possible since her daughter was diagnosed with Shwachman-Diamond Syndrome (SDS) in 2015. In 2020, Dr. Hars founded the SDS Alliance, a 501(c)(3) nonprofit organization serving the global SDS community. Through the SDS Alliance, Dr. Hars is dedicated to accelerating the development of new therapies for SDS. Article: From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development Valentino Bezzerri, Ph.D. Associate Professor, Università degli studi Link Campus University - Rome, Italy; Formal Principal Investigator, Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata di Verona, Italy Dr. Bezzerri's research interest is mainly focused on the molecular mechanisms underlying the pathogenesis of inherited bone marrow failure syndromes (IBMFS), specifically in regards to the Shwachman-Diamond syndrome. In addition, my group is investigating the effect of PTC-readthrough inducer drugs (e.g. ataluren) on the restoration of nonsense mutated SBDS gene expression and function. Dr. Bezzerri has a broad scientific background in applied medical sciences, with specific training and expertise in molecular pathology. He has been working as PI, co-PI or co-investigator in several grants funded by the Italian Ministry of Health, the Italian Cystic Fibrosis Foundation, and the Italian Association for Shwachman-Diamond syndrome (AISS). From 2018 to 2021 I have directed the laboratory of the Cystic Fibrosis Center of Ancona, Italy, coordinating a team involved in basic research on rare diseases. Since 2022, he hase been working as Head of preclinical research lab at Cystic Fibrosis Center Regione Veneto (Verona, Italy). His research interests are mainly focused on nonsense mutation suppression therapies for Cystic Fibrosis and Shwachman-Diamond syndrome. In 2017 he established a scientific collaboration with Prof. Seth J Corey (Cleveland Clinic, USA) to understanding the molecular mechanisms that underlie bone marrow failure and leukemogenesis in Shwachman-Diamond syndrome. This fruitful collaboration is still ongoing and is producing promising results. In 2020 he joined the European COST Action on chronic neutropenia (EuNet-INNOCHRON), collaborating with some of the most reputable European hematologists. From 2021 to 2024 he co-chaired the Young Committee of the EuNet-INNOCHRON Action. Together with Dr. Cipolli, Director of the Cystic Fibrosis Center Regione Veneto, they are currently studying the possible involvement of cellular senescence in CF airways. This intriguing hypothesis might open a wider scenario in the therapeutic approaches for CF, in particular in the field of anti-inflammatory treatments. Together with Dr. Theo Moraes (CFIT, SickKids, Toronto, Canada) and Prof. Scott Randell (UNC at Chapel Hill, USA) they have set up a substantial network based on full sharing of ideas and projects aimed at understanding the inflammatory process associated with Cystic Fibrosis. New publication on Ataluren in SDS patients: Ataluren improves hematopoietic and pancreatic disorders in Shwachman-Diamond syndrome patients: a compassionate program case-series. Daniel Bauer, M.D, Ph.D. Principal Investigator and Staff Physician at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Assistant Professor of Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute, and Associate Member of the Broad Institute of MIT and Harvard. Daniel E. Bauer, MD, Ph.D., is the director of the Gene Therapy Program, staff physician, and principal investigator in Pediatric Hematology/Oncology at the Boston Children’s Hospital and Dana-Farber Cancer Institute; the Donald S. Fredrickson, MD, associate professor of Pediatrics at Harvard Medical School; principal faculty at the Harvard Stem Cell Institute; and associate member at the Broad Institute of Harvard and MIT. Dr. Bauer is a physician-scientist whose laboratory research focuses on genetic determinants of blood cell development and disease and opportunities for innovative therapies for hematopoietic disorders. He has discovered the BCL11A erythroid enhancer as a favorable target for therapeutic genome editing for the β-hemoglobinopathies sickle cell disease (SCD) and transfusion-dependent β-thalassemia (TDT), now validated by several clinical trials (NCT03745287, NCT03655678, NCT04211480, NCT03653247). Dr. Bauer has developed methods for highly efficient, penetrant, and specific nuclease and base editing in human hematopoietic stem cells and advanced functional genomic methods to correlate genotypes with molecular, cellular, and organismal phenotypes with high precision and resolution. He has identified a therapeutic gene editing strategy for universal amelioration of ELANE-mutant severe congenital neutropenia, described a core NuRD subcomplex and uncovered ZNF410 as a transcription factor critical for fetal hemoglobin (HbF) repression, and demonstrated how human genetic diversity alters off-target outcomes of therapeutic gene editing. He is developing investigator-initiated clinical trials, as sponsor, for hemoglobinopathies and inherited bone marrow failure disorders. Dr. Bauer's clinical work focuses on the care of patients with nonmalignant blood disorders. He teaches undergraduate, graduate, medical students, residents, and fellows. He directs a hospital-based gene therapy program and chair an IRB scientific review committee for cell and gene therapies. Dr. Bauer peer reviews grants and manuscripts and serve on the NHLBI SCD Advisory Committee. For the American Society of Cell and Gene Therapy, he is a member of the editorial board of Molecular Therapy, chair of the Stem Cell Committee, and has served as abstract reviewer, poster reviewer, committee member, and workshop organizer. Resources: Promotional video about his work on Sickle Cell Disease Tim Barry, Ph.D. postdoctoral researcher at Boston Children’s Hospital and Massachusetts General Hospital Dr. Barry a postdoctoral researcher at Boston Children’s Hospital and Massachusetts General Hospital, advised by Dan Bauer, Luca Pinello, and Danilo Pellin. He obtained his PhD in Statistics at Carnegie Mellon University. He likes to work within the connective tissue that binds together the statistical, biological, and computational sciences, and is especially interested in statistical problems arising in the context of CRISPR screen analysis and CRISPR therapeutic development. Areas of methodological focus include independence and conditional independence testing, multiple testing, efficient algorithms for genomics, and (more recently) deep learning. Nominated by the SDS Alliance for the 2026 Young Investigator Draft by Uplifting Athletes . Decisions about the draft are expected in November 2025. Prof Andrew Elefanty, Ph.D. Group Leader / Snr Princ Research Fellow, Murdoch Children's Research Institute, Victoria, Australia Professor Andrew Elefanty is the Group Leader of the Blood Diseases Laboratory at the Murdoch Children’s Research Institute (MCRI). Prof Elefanty's research focuses on the differentiation of human pluripotent stem cells to understand and model blood diseases in vitro and for transplantation. Together with the laboratories of Professor Ed Stanley (Immune Development group) and Dr Elizabeth Ng (Blood Development group) at MCRI, Prof Elefanty has made important contributions to the generation of genetically modified human stem cell lines in which lineage-specific fluorescent reporters allow monitoring of differentiation. After training as a physician, Professor Elefanty completed a PhD in leukaemogenesis at the Walter and Eliza Hall Institute of Medical Research supervised by Professor Suzanne Cory. He subsequently worked on globin gene regulation with Professor Frank Grosveld at the National Institute for Medical Research in Mill Hill, London before returning to the Hall Institute to pursue interests in developmental haematopoiesis and the differentiation of mouse embryonic stem cells. He moved to Monash University in 2002 to initiate studies with human embryonic stem cells. In 2013, his laboratory relocated to the Murdoch Children’s Research Institute. In collaboration with Dr Elizabeth Ng and Prof Ed Stanley, he has focused on haematopoietic differentiation of human pluripotent stem cells. Groundbreaking publication: Long-term engrafting multilineage hematopoietic cells differentiated from human induced pluripotent stem cells. Elizabeth Ng, Ph.D. Group Leader / Principal Research Fellow, Murdoch Children's Research Institute, Victoria, Australia A/Prof Elizabeth Ng is a Group Leader in the Blood Development Laboratory at MCRI. She completed her undergraduate degree at the University of Melbourne and received her PhD from Monash University. Elizabeth’s research uses induced pluripotent stem cell (iPSC) technology to investigate haematopoietic stem cell (HSC) formation during human development and to translate that to the in vitro differentiation of iPSCs to blood lineages. A major focus of her work is the generation of transplantable haematopoietic stem cells (iHSCs) from human iPSCs for tissue repair and regeneration, disease modeling and the testing of pharmaceuticals and other therapeutic products. She has devised and patented protocols for haematopoietic differentiation together with a differentiation medium that supports the efficient production of large numbers of blood cells. APEL medium has been licensed and commercialised by STEMCELL Technologies. Together with long term collaborators Prof Andrew Elefanty and Prof Ed Stanley, her work showed that expression of the HOXA genes during differentiation identified haematopoietic cells with a transcriptional profile similar to blood cells seen in the aorta-gonad-mesonephros (AGM) region of the human embryo. In 2024 she published the first systematic method for generating transplantable HSCs from human iPSCs (iHSCs) which can be clinically translated to provide a source of personalised CD34+ iHSCs. She aims to understand the mechanisms that underlie iHSC maturation and to develop in vitro bone marrow-like 'niches' to sustain them. Her work is supported by grants from the NHMRC and the MRFF, a licensing agreement with Retro Biosciences, Inc, and the Novo Nordisk Fondation Center for Stem Cell Medicine, with whom she is a Principal Investigator. Groundbreaking publication: Long-term engrafting multilineage hematopoietic cells differentiated from human induced pluripotent stem cells. Denise Sabatino, Ph.D. Research Assistant Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania and Children's Hospital of Philadelphia Dr. Sabatino is a research assistant professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania and Children's Hospital of Philadelphia. Dr. Sabatino completed her undergraduate studies at The Ohio State University and earned her PhD in Genetics at The George Washington University/National Institutes of Health in the laboratory of Dr. David Bodine at National Human Genome Research Institute. During her postdoctoral fellowship with Dr. Katherine High at Children's Hospital, Dr. Sabatino investigated gene transfer for hemophilia B using adeno-associated viral (AAV) vectors. She joined the faculty at the University of Pennsylvania School of Medicine in 2008 in the Department of Genetics. In 2010 she joined the Department of Pediatrics and became a member of the Division of Hematology and the Raymond G. Perelman Center for Cellular and Molecular Therapeutics at CHOP. She continues her research into hemophilia, specifically the variants of coagulation factor VIII, to identify novel variants with enhanced function with an eye toward developing gene-based therapeutic approaches for the condition. Resources: Kendall Davis, MPH Head of Clinical Engagement at Sano Genetics Kendall Davis, MPH earner her Masters of Public Health, Public Health, psychology, social and behavioral determinants of health from Michigan State University. He currently serves as the Head of Clinical Engagement at Sano Genetics since July 2025. Alongside this role, Kendall is a Board Member of Team Telomere, a nonprofit dedicated to supporting families affected by Dyskeratosis Congenita and related disorders. Prior experience includes positions as Director of Advocacy & Engagement Strategy at ICON plc, Early Development Lead for Patient Advocacy at Spark Therapeutics, Patient Advocacy Strategy Lead at PRA Health Sciences, and Director of Strategic Alliances at Global Genes. Kendall has also worked as a HCV Community Educator and Patient Advocate at AbbVie and as a Health Educator at Beacon Therapeutic. Resources: Joe Katakowski, PhD Director of Research at the RTW Foundation Joe Katakowski, Ph.D., is responsible for leading the development strategy and internal R&D efforts for projects within the RTW Foundation portfolio. Prior to joining RTW Foundation, Joe was a staff scientist at Regeneron where he led a team focused on preclinical development of gene therapies and AAV vector engineering. Before Regeneron, Joe was a principal scientist at Pfizer where he developed and led multiple immuno-oncology programs from early-stage discovery up to IND application, working with a diverse array of modalities including lipid/polymeric nanoparticles, PROTACs, ADCs, antibodies, and small molecules. Prior to Pfizer, Joe was a senior scientist at Innovimmune, a biotech startup. During his PhD, Joe developed unique delivery technologies for nucleic acid-based drugs, seeking to modulate immune responses for autoimmune and oncology indications. His PhD work led to two separate first author publications in Molecular Therapy, as well as additional publications throughout his research career. Joe has a BS in human biology from Michigan State University, a MS in cellular & molecular biology from Eastern Michigan University and a PhD in immunology & biomedical sciences from the Albert Einstein College of Medicine. Article: Drug development for neglected ultra-rare diseases of no commercial interest: Challenges and opportunities. Vanessa Merker, PhD Director of Research, The Family Center for NF & SWM at Massachusetts General Hospital, and Assistant Professor of Neurology, Harvard Medical School Dr. Merker is a health services researcher committed to improving healthcare delivery for people with rare diseases by leveraging information collected directly from patients and their family members. Her research is focused on improving the accessibility, quality, and patient-centeredness of care for patients with rare diseases like NF and other cancer predisposition disorders. She uses qualitative and mixed methods to understand patients’ healthcare needs and experiences; develops and analyzes patient-reported outcome measures for use in clinical trials; and she engages patients as partners in the design and conduct of her research. Resources: Project PACER Rebecca Hilburn Mother of Declan who lives with SDS Director at Merck Rebecca first connected with the SDS Alliance after her son Declan was diagnosed with Shwachman-Diamond Syndrome. She and her network quickly jumped into action and fundraising to help accelerate research. They have participated in several editions of the Million Steps Closer to #CureSDS fundraiser organized by the SDS Alliance, encouraged workplace giving, took advantage of employer matching, and organized their own fundraisers, such as a hockey game fundraiser that is highlighted in the recent documentary about SDS, title "Until There's a Cure". Rebecca's family and their epic hockey fundrasier is featured in the SDS documentary film: Until There's a Cure .

Shwachman-Diamond Syndrome Alliance (SDS Alliance) news SDS Alliance News Patient Voices Needed to Shape Gene Therapy for SDS — Two Opportunities to Make It Count SDS Alliance has launched a gene therapy perspectives survey on SDS-GPS. Learn why patient input matters at this stage of research and how to participate — including the GeneTX interview study at St. Jude. SDS Learning Resources 6 days ago New Resources for School Success with Shwachman-Diamond Syndrome — and How You Can Help Build More SDS Alliance launches a free personalized school letter tool and comprehensive school guide for students with Shwachman-Diamond Syndrome — built by and for the SDS community. SDS Alliance News Aug 6 Your Data, Reaching Further SDS-GPS Joins RDCA-DAP by C-Path Your SDS-GPS data just gained international reach. Learn how a new integration with RDCA-DAP is helping turn patient experience into real progress toward SDS treatments, and what it means for your privacy. SDS Alliance News Jul 23 How YOU can help move gene therapy forward for SDS Gene therapy for SDS is advancing. Learn what's being developed, why base and prime editing matter, and how your perspective can shape what comes next. SDS Alliance News Jul 9 One Year Later: The SDS PFDD Voice of the Patient Report Is Published — and Your Voice Is Already at Work The Shwachman-Diamond Syndrome Voice of the Patient report is now published and submitted to the FDA. Learn what the EL-PFDD meeting captured, how the report is used, and what comes next. SDS Spotlight Jun 4 How to Fundraise for Shwachman-Diamond Syndrome Research: A Free Guide for Families and Supporters SDS Alliance's free fundraising guide helps families and supporters raise funds for Shwachman-Diamond Syndrome research — on their own terms, at any level. SDS Alliance News May 30 SDS Alliance Receives Grant from RTW Foundation to Advance Prime Editing Gene Therapy for Shwachman-Diamond Syndrome SDS Alliance announces a grant from RTW Foundation supporting prime editing gene therapy research for SDS at Boston Children's Hospital. #CureSDS SDS Spotlight May 7 Your Data is Safe: What Newly Diagnosed SDS Families Need to Know About SDS-GPS Newly diagnosed with Shwachman-Diamond Syndrome? Learn how SDS-GPS protects your privacy while helping advance research and therapies for SDS. SDS Alliance News Apr 28 Living with Shwachman-Diamond Syndrome: What Lab Tests Can't Tell Us Your (or your child's) ANC came back stable. But were they really feeling okay? Discover how SDS Alliance is adding Quality of Life (PROMIS) surveys to SDS-GPS — measuring what lab tests can't capture, and building the data we need for clinical trials by 2030. SDS Spotlight Apr 2 Project PACER: Building Shwachman-Diamond Syndrome Education Together Take our 5-minute survey to shape Project PACER - a comprehensive Shwachman-Diamond Syndrome education manual and course. Co-created by patients, caregivers, and medical experts. PCORI-funded initiative. SDS Learning Resources Mar 5 2025 Impact Report: How the SDS Community Is Advancing Research Toward Therapies Read the 2025 SDS Alliance Impact Report to see how patient voice, research strategy, and collaboration are advancing therapies for Shwachman-Diamond Syndrome. SDS Alliance News Jan 9 Introducing Monthly Giving Allies: How Small Monthly Gifts Help Accelerate SDS Research and #CureSDS Learn how the SDS Alliance’s Monthly Giving Allies program helps fund research, support therapy development, and build momentum toward clinical trials for Shwachman-Diamond syndrome (SDS). Even small monthly donations make a meaningful impact. SDS Alliance News Nov 8, 2025 SDS Alliance awarded PCORI Engagement Award funding to build capacity for patient-centered CER for Shwachman-Diamond Syndrome. We are pleased to announce that the Shwachman-Diamond Syndrome Alliance (SDS Alliance) has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support building capacity for patient-centered Comparative Clinical Effectiveness Research (CER) on Shwachman-Diamond Syndrome (SDS), or Project PACER for short. SDS Alliance News Jul 27, 2025 FDA provides positive feedback on the SDS EL-PFDD meeting, valuing the Patient Voice Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome (SDS PFDD meeting) successfully delivers patient voice to the FDA, drug developers, and other stakeholder. SDS Alliance News Jul 16, 2025 Reflections from Cincinnati 2025 and impact of the patient voice Our reflections. Cincinnati hosted two key events for SDS in June 2025: the SDS PFDD meeting and the International Scientific Congress on Shwachman-Diamond Syndrome SDS Alliance News Jun 23, 2025 SDS Patient LENS Study Now Open Apply today. SDS Alliance open a new qualitative research study -- the SDS Patient LENS Study -- to understand the unique lived experiences, SDS Alliance News Feb 1, 2025 Register for Community Webinar and Q&A to prep for SDS PFDD Meeting Join the community webinar and Q&A session to learn all about the EL-PFDD meeting on Shwachman-Diamond Syndrome and get answers about it all SDS Alliance News Jan 18, 2025 Amazing Opportunity to Share SDS Patient Perspectives with FDA: EL-PFDD Meeting Planned June 4th, 2025 Be a Speaker/Panelist! The FDA has accepted our request to hold an Externally-Led Patient Focused Drug Development Meeting for SDS on 6/4/25 SDS Learning Resources Jan 7, 2025 SDS-POPS 2024 Recordings and Resources Now Available! SDS Alliance Blog 2024-12-08 In this issue: SDS-POPS 2024 covers a wider range of topics, including SDS patient voice, stories, film, and advocacy, and SDS research and SDS Learning Resources Dec 8, 2024 SDS & Science Snapshots (2024-11-02) In this issue: The SDS Alliance team is ready for Global SDS Awareness Day and Action Week! A recap of the CZI Science in Society meeting. SDS Learning Resources Nov 3, 2024 Announcing the Winners of the 2024 Million Steps Closer to #CureSDS Challenge In this issue: The results of the 2024 Million Steps Closer to #CureSDS Challenges are in! SDS Alliance News Nov 2, 2024 Celebrating Inaugural Global SDS Awareness Day and Action Week: November 1-7 In this issue: SDS Alliance raises awareness about Shwachman-Diamond Syndrome and inspires action in the community SDS Alliance News Nov 2, 2024 SDS Alliance shares ideas at new FDA Rare Disease Innovation Hub kick-off Meeting. SDS & Science Snapshots (2024-10-26) In this issue: SDS Alliance shares ideas at new FDA Rare Disease Innovation Hub kick-off Meeting. SDS Learning Resources Oct 12, 2024 New Publication by the SDS Alliance Highlights SDS as a Therapeutic Target. SDS & Science Snapshots (2024-08-17) New Publication by the SDS Alliance. From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Dev SDS Learning Resources Aug 17, 2024 Free Genomic Sequencing for SDS through New Collaboration with Rare Genomes Project. SDS & Science Snapshots (2024-07-13) In this issue: New research genetic testing opportunity for individuals suspected to have SDS! SDS Learning Resources Jul 13, 2024 SDS Alliance Presents at the International INNOCHRON Scientific Meeting. SDS & Science Snapshots (2024-04-20) In this issue: SDS Alliance highlights the patient voice at the international INNOCHRON meeting in Greece! Welcome to our timely updates... SDS Learning Resources Apr 20, 2024 How Elijah inspired Hero Kids in the Making - an SDS Story from the US I wanted my son to see himself as a brave hero overcoming his reasonable fears associated with the pain and uncharted aspects of his medical SDS Patient Stories and News Feb 11, 2024 Osmosis Video on Shwachman-Diamond Syndrome Receives over 4K Views within a Month of Publication Huge SDS advocacy and awareness win: Osmosis video on Shwachman-Diamond Syndrome receives thousands of views, with millions more to follow SDS Alliance News Dec 2, 2023 2023 Annual Global Virtual Fundraiser - 4 Million Steps Closer to #CureSDS - Huge Success This October, we conducted the 4th annual global virtual fundraiser to support SDS research. The theme this year was 4 MILLION STEPS... SDS Alliance News Oct 21, 2023 SDS Community Represented at the Chan Zuckerberg Initiative's Science and Society Meeting This September, we took to opportunity to introduce the Shwachman-Diamond Syndrome community at the Chan Zuckerberg Initiative (CZI)... SDS Alliance News Oct 10, 2023 Shwachman-Diamond Syndrome Receives ICD-10 Code, Paving the Way for Improved Care and Therapies Shwachman-Diamond Syndrome receives new ICD-10 Diagnostic Code, Paving the Way For Improved Patient Care and New Treatment Options. Code... SDS Alliance News Aug 8, 2023 SDS & Science Snapshots (2023-01-14) In this issue: Comprehensive review article on bone marrow surveillance of SDS patients by Drs. Shimamura and Reilly; and a recap of ASH... SDS Alliance News Jan 15, 2023 SDS Cell Biobank Pilot Project a success! After the successful launch of the mouse model project last year and advancing it to phase two this year, we have expanded our efforts to... SDS Alliance News Dec 11, 2022 SDS Alliance Meets with the FDA Dr. Eszter Hars (SDS Alliance president and CEO) joined the FDA CBER OTAT Patient-Focused Drug Development Listening Meeting. SDS Alliance News Dec 3, 2022 2022 Annual Global Virtual Fundraiser - Three Million Steps Closer to #CureSDS - Huge Success Again This October, we conducted the third annual global virtual fundraiser to support SDS research. The theme this year was THREE MILLION... SDS Alliance News Oct 22, 2022 SDS Alliance meets with the White House Cancer Moonshot Team September 30th is Rare Cancer Day. We marked the day by taking action and meeting with the White House Cancer Moonshot initiative in... SDS Alliance News Oct 4, 2022 SDS Alliance is Awarded JumpStart Grant for iPSC Development We are so honored and excited to announce that we won the JumpStart Research Tools Matching Grant through The Orphan Disease Center (ODC)... SDS Alliance News Sep 8, 2022 Mouse Model Project Update: Phase I complete! We are happy to report that Jackson Laboratory has completed the first phase of the project. They have created mice in which a large segment SDS Alliance News Aug 29, 2022 Dr. Eszter Hars chosen by The Milken Institute to join FasterCures LeaderLink Program SDS Alliance’s President and CEO, Eszter Hars Ph.D., has been chosen by The Milken Institute to join the FasterCures LeadersLink Program.... SDS Alliance News Apr 23, 2022 Introducing Ribo & Somi, the RIBOSOME Superheroes The last day of February is Rare Disease Day, but for us - rare disease families and advocates - every day is rare disease day. But no... SDS Alliance News Feb 2, 2022 Our Team is Growing: Welcome Lisa Superina as our new Family and Community Engagement Ambassador. Lisa lives on Long Island, New York, with her husband and four daughters. Her two youngest daughters, Nora and Kayla, were genetically... SDS Alliance News Jan 29, 2022 SDS Alliance Awarded Chan Zuckerberg Initiative “Rare As One” Grant Woburn, MA (November 3rd, 2021) — The SDS Alliance is delighted to announce that the organization has been awarded a prestigious grant... SDS Alliance News Nov 3, 2021 2021 Annual Global Virtual Fundraiser - Two Million Steps Closer to #CureSDS - Huge Success At the end of September, we conducted the second annual global virtual fundraiser to support SDS research. The theme this year was TWO... SDS Alliance News Oct 10, 2021 Elevating Shwachman-Diamond Syndrome's Standing From the Founder, Dr. Eszter Hars, Ph.D. This week, I had the incredible honor to be invited to speak at the 2021 Global Genes RARE... SDS Alliance News Sep 30, 2021 Bringing Shwachman-Diamond Syndrome to the Forefront From the Founder, Dr. Eszter Hars, Ph.D. This week, I had the great honor to be invited to speak on a patient-centered panel at the NICER... SDS Alliance News Sep 25, 2021 Mouse Model Project: Meet the Scientists! From the Founder, Dr. Eszter Hars Dear SDS community, I am so excited to have been able to launch this project. To recap: This project is... SDS Alliance News Jul 7, 2021 Advocating for SDS Research at Rare Drug Development Symposium This week, I had the great honor to present at the 2021 Rare Drug Development Symposium, hosted by Global Genes and the UPenn ODC. SDS Alliance News Jun 13, 2021 The SDS Alliance Launches Mouse Model Project with The Jackson Laboratory SDS Alliance has just launched a project with The Jackson Laboratory to develop an SDS mouse model—the key first step toward a cure for SDS. SDS Alliance News May 29, 2021 A Cure for SDS: Our Mission From the Founder, Dr. Eszter Hars “Mom, why do I have SDS? Why can’t I be like everyone else?” my daughter asks me… Imagine a world... SDS Alliance News Jan 15, 2021