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.

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

Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this month's SDS Spotlight, Eszter Hars, Ph.D. introduces the new SDS PACER Course and highlights additonal opportunities to accelerate research and therapy development. If you live with Shwachman-Diamond Syndrome (SDS) or care for someone who does, you already know more about life with SDS than you think. You know what it feels like to wait for a bone marrow result. You know the exhaustion of explaining SDS to yet another doctor who has never seen it before. You know which questions keep you up at night, and which ones still don't have good answers. Researchers need to hear your insights. It is not just a "nice to have." It is a critical requirement for research and therapy development that actually helps people and families like you and me. This true partnership works best when we speak the same language — when we agree on the basic concepts and feel comfortable discussing them frankly. That is why we built the SDS PACER Course. What Is the SDS PACER Course? The SDS PACER Course — Patient and Family Edition is a free, self-paced online learning series built specifically for the Shwachman-Diamond Syndrome community. Its six modules are designed to help you understand the science behind SDS well enough to participate meaningfully in discussions, research, research prioritization and design, advocacy, and the decisions around your own or your family's care. It is available now at www.sdsalliance.org/courses . Create a free account on the SDS Alliance website and log in at the top of the page, then go to My Programs. Start whenever you are ready, at your own pace, on any device. What You Will Learn The six modules build on each other, from the foundations of patient-centered research to the frontier of SDS therapy development: Module 1 — What Is Patient-Centered Research and Why Does It Matter for SDS? What patient-centered comparative effectiveness research is, how it differs from other kinds of research, and what your role in it can look like — anchored by a presentation from our collaborator Dr. Vanessa Merker of Massachusetts General Hospital and Harvard Medical School. Module 2 — Genes, Proteins, and the SBDS Gene The genetics of SDS in plain language — what genes do, what variants are, how SBDS mutations cause SDS, and what that means for diagnosis, inheritance, and research. Module 3 — Ribosomes, SBDS, and How SDS Affects the Body Why SDS affects so many different organ systems, what ribosomal stress means, and why every patient's experience is different. Module 4 — Clonal Hematopoiesis, Leukemia Risk, and the Future of Treatment What happens in the bone marrow over time in SDS, how researchers are learning to predict leukemia risk, and what that means for surveillance decisions and emerging therapies. Module 5 — Clinical Research and Therapy Development: How Treatments Reach Patients The full arc of drug development — from pre-clinical research through clinical trials and regulatory approval — and the many ways patients and organizations can shape that process. Module 6 — Stem Cell Transplant and Gene Therapy: What's Available Now and Where We Are Headed (coming next week) What HSCT is, how donor matching works, how bone marrow surveillance tools work, and the three gene therapy approaches being developed specifically for SDS — including why gene editing is a better fit than traditional gene therapy. Each module includes videos, written content, and a short quiz. You earn a badge and a certificate for each one you complete. What Will I Get Out of the Course? After completing the course, you will be equipped to make a real difference in many settings: At the doctor: Speak up more clearly and confidently for yourself or your child With researchers: Help scientists design better SDS studies with your informed perspective In the community: Help and teach other SDS families — especially the newly diagnosed In clinical trials: Make decisions about participation with real confidence On advisory boards: Provide an informed patient perspective on research planning With SDS Alliance: Participate in projects and help shape what we build next You do not need a science background. This course is written for people who have been living with SDS — not for researchers*. If you have been managing this condition, or supporting someone who has, you already have the experience. The course gives you the framework to use it. *A course dedicated to clinicians and researchers is coming soon. Built for the Community, With the Community This course was developed through Project PACER — SDS Alliance's two-year initiative funded by the Patient-Centered Outcomes Research Institute (PCORI) to build capacity for patient-centered research in Shwachman-Diamond Syndrome. Our community survey shaped the content by asking what topics matter most to you. Our co-developers — patients and caregivers who test-drove the course and provided thoughtful feedback — helped us clarify and improve the content and . They include adult patients, caregivers of children at every stage of the SDS journey, spanning three continents. When you take the course, you benefit from their work — and have the opportunity to help improve it further. Our goal is clinical trials by 2030. An informed, research-ready community is a critical piece of the puzzle. The course is how we build that together. Frequently Asked Questions Is the course free? Yes. The SDS PACER Course is completely free for all SDS community members worldwide. Do I need a science background? No. The course is written for patients and families, not scientists. Plain language throughout. How long does it take? Each module takes approximately 30–60 minutes. You can take breaks and continue anytime — the course saves your progress automatically. Who can take the course? Anyone in the SDS community — patients, caregivers, parents, partners, and family members. An edition for clinicians and researchers is coming soon. Is it available in other languages? The course is currently available in English. We are exploring additional languages as funding allows. What do I get when I finish? A badge and certificate for each completed module, and a full course certificate when all six are done. Take the SDS PACER Course Free, self-paced, open to the SDS community worldwide. Start the course at www.sdsalliance.org/courses → Create a free account or log in, go to My Programs, and begin with Module 1. Each module takes 30–60 minutes. You can take breaks and continue anytime. Questions or comments? Email us at pacer@sdsalliance.org. All October Resources at a Glance 🎓 Take the new SDS PACER course: www.sdsalliance.org/courses 🧬 New to SDS-GPS? Join here: www.sdsalliance.org/sds-gps-join 🧬 Existing SDS-GPS users, log in and complete your surveys at www.sdsalliance.org/sds-gps-login 🔬 St. Jude GeneTX study + SDS Alliance gene therapy survey: full details at https://www.sdsalliance.org/post/sds-gene-therapy-perspectives-survey 📅 SDS Action Week: November 1–7, 2026. 📞 SDS Family Network Welcome Call: Check the SDS Alliance Family Network (Facebook group) or email connect@sdsalliance.org Questions? Contact us anytime at connect@sdsalliance.org Project PACER is funded by the Patient-Centered Outcomes Research Institute (PCORI), Engagement Award EASO-42419. 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The new Patient Perspectives on Gene Therapy Trials survey is now available on SDS-GPS, our Global Patient Survey and Collaboration Program. Join today! Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this month's SDS Spotlight, Eszter Hars, Ph.D. introduces two opportunities for patients and families to help shape how gene therapy for SDS gets developed — before trials open. Gene therapy for SDS is advancing. Early lab studies are promising. The tools — base editing and prime editing — are already being tested for other blood disorders, in real people. For SDS, researchers have shown they work in early lab studies. No clinical trial yet — but we are closer than ever. And this is the moment when your voice can make the biggest difference. Why Patient Perspectives Matter — and Why Now When researchers consider and plan gene therapy trials for rare disorders such as Shwachman-Diamond Syndrome (SDS), they must make dozens of decisions that go far beyond science alone. Who should be eligible? Should a therapy be offered preventively — before complications develop — or only when the situation becomes more urgent? How do patients and families weigh the risks of an experimental therapy against the risks of waiting? What would make a patient or family say yes, and what would make them say no? You can't find the answer to these questions in a lab or medical records. Only people who live with SDS every day can provide the answers. And for a rare disease like SDS — where the patient population is small and every voice counts — structured, systematic input from the community is essential. Patient perspectives are used in all key aspects of research in therapy development: The FDA uses patient input to inform benefit-risk assessments when reviewing new therapies. Drug developers use it to design clinical trials, select meaningful endpoints (decide what to measure), and understand what the patient population actually needs. Researchers cite it in grant applications, funding requests, and regulatory applications to demonstrate that their work is grounded in patient-identified priorities. The time to share your perspective is now, during the trial planning stage, when the answers can still influence who is included, what outcomes are measured, and how the therapy is delivered. Once a trial is underway, it is much harder to change course. Opportunity 1: The SDS-GPS Gene Therapy Perspectives Survey SDS Alliance has launched a gene therapy perspectives survey on SDS-GPS — our IRB-approved, safe and secure global patient survey program. The survey asks about your priorities, your concerns, and your perspectives on three approaches being studied for SDS. It takes about 45 minutes and covers questions researchers and regulators actually need answered — including how families think about preventive versus reactive approaches, what risks feel acceptable, and what it would actually take to say yes to participating in a clinical trial. Your responses will go to researchers working on SDS gene therapy and help shape trial design. The survey is live now. Once you log in to SDS-GPS, it will pop up automatically, or you can find it on your dashboard under surveys. You may have also received an automatic email about it. If you are not yet on SDS-GPS, setting up your account is free and takes about 30–60 minutes to fill out the baseline surveys. You can take breaks anytime. If available, upload your genetic testing report along the way, or later if you prefer. Not Sure Where to Start? Explore the Interactive Guide First If you would like to understand the gene therapy landscape before taking the survey, our free interactive guide walks you through the three approaches being studied for SDS — in plain language, with animations and visuals, at your own pace. No scientific background needed. Our new interactive guide to gene therapy, specifically for SDS patients and families. The guide and the survey are designed to work together. The scenarios and concepts in the survey match those explained in the guide. Exploring the guide can help you be more familiar with the terms and concepts mentioned in the survey, but it's not required. If you want to dive even deeper, read the July blog post on gene therapy for SDS, which includes a video on the basics of SDS genetics and an expert introduction to gene and prime editing. Opportunity 2: The GeneTX Study at St. Jude Children's Research Hospital SDS Alliance is supporting recruitment for GeneTX — an IRB-approved research study led by the Bioethics Program at St. Jude Children's Research Hospital. The study aims to understand what gene therapy information and support people with Shwachman-Diamond Syndrome and their families need most. Participation involves a 45–60 minute tele-interview. Participants age 18 or older may participate independently. Participants ages 8–17 participate with a caregiver present. All participants receive $100. Who may be eligible: A person age 8 or older with SDS, or a caregiver of a person with SDS The person with SDS has never been offered gene therapy (true for the whole SDS community at this time) International families are welcome. Participation is voluntary and does not obligate you to anything further. To learn more or express interest, contact the GeneTX study team at genetxstudy@stjude.org. SDS Alliance can also make an introduction — reach out to Eszter at ehars@sdsalliance.org. All September Resources at a Glance Gene therapy perspectives survey: Log in to SDS-GPS — survey appears automatically Set up an SDS-GPS account: www.sdsalliance.org/sds-gps-join Interactive gene therapy guide: www.sdsalliance.org/gene-editing-explainer GeneTX study: genetxstudy@stjude.org More about SDS-GPS: www.sdsalliance.org/sds-gps Questions? Contact us anytime at connect@sdsalliance.org Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. Every August, families navigating Shwachman-Diamond Syndrome (SDS) face a familiar challenge: a new school year brings with it a new set of teachers, counselors, and administrators who have likely never heard of SDS. How do you help them understand — quickly, clearly, and in a way that also shows them who your child really is? This month, SDS Alliance is launching two new free resources to help. Both were built with and for the SDS community, and both are available now. In this episode of SDS Spotlight, I share brand-new resources we developed for you — patients and families living with SDS — to help you get ready for the new school year. A Personalized School Letter — Built from a Community Idea The SDS School Letter Tool was inspired by Angela, a mom in the SDS community who had already solved this problem for her own son years ago. She created a trifold she could hand to his school team — something personal, portable, and practical. That idea stuck. SDS Alliance built it into a tool that any patient or family can use. Here is how it works: you answer a few questions about the patient, select relevant accommodations from a curated list, add one or more photos, and a few details about their personality and hobbies. The tool generates a personalized, ready-to-share document — either a multi-page letter or a double-sided trifold layout — as a downloadable PDF. The letter introduces the whole person, not just the diagnosis. Teachers and school staff get the medical context they need alongside a sense of who this student actually is. The tool is published on Zenodo under an open license — if you work with another rare disease community and would like to adapt it, the files are freely available. Suggested citation: Hars E. (2026). SDS School Letter Tool. SDS Alliance. https://doi.org/10.5281/zenodo.21324915 A Comprehensive School Guide for Patients, Families, and School Teams For families and care teams who want to go deeper, SDS Alliance has also published a comprehensive school guide: Supporting Students with Shwachman-Diamond Syndrome: A Guide for Patients, Families, and School Teams. The guide covers: How SDS affects learning, attendance, and daily school life Navigating IEPs, 504 plans, and other formal accommodations Communicating effectively with teachers, nurses, and administrators Managing SDS-related challenges at school — neutropenia, fatigue, pain, cognitive differences, and more Transitioning from pediatric to adult care, and from school to college or work Supporting adult patients navigating workplace accommodations The guide was developed as part of Project PACER — SDS Alliance's PCORI-funded initiative to build comprehensive, community-informed resources for the SDS community. It was clinically reviewed by Dr. Thea L. Quinton, pediatric neuropsychologist at Cincinnati Children's Hospital, and her colleagues who work directly with school teams. It is written for three audiences: patients, families, and school professionals, so that a teacher can pick it up and understand SDS in the context of their classroom, while a parent can use the same document to prepare for an IEP meeting. The guide is free, open-access, and published on Zenodo with a permanent DOI — meaning it is citable, shareable, and will remain available long-term. Suggested citation: Hars E. (2026). Supporting Students with Shwachman-Diamond Syndrome: A Guide for Patients, Families, and School Teams. SDS Alliance. https://doi.org/10.5281/zenodo.21316992 How These Resources Came to Be Both resources were developed as part of Project PACER — SDS Alliance's initiative to build the infrastructure of knowledge and community engagement that rare disease research depends on. Funded by PCORI (Eugene Washington PCORI Engagement Award EASO-42419), PACER is creating a suite of resources that center the patient voice at every step. The school letter tool and guide reflect our belief that the best resources for the SDS community come from the community itself. Angela's trifold served as the inspiration. Dr. Quinton's clinical expertise gave the guide professional depth. The families who reviewed it and provided feedback made it come to life. This is how our community works — solving problems together and sharing the solutions with everyone who comes after. What Comes Next — and How You Can Help The Essential Guide — Living with Shwachman-Diamond Syndrome: The Essential Guide for and by Patients, Families, Clinicians, and Researchers — is the larger resource Project PACER is building. It will cover every major aspect of SDS across 29 chapters, with clinical expert overviews, research updates, and patient and family stories at the center of each one. School, work, and daily life accommodations is one of those chapters. But there are many more. We are currently collecting patient and family stories across a wide range of topics — from neutropenia and bone marrow monitoring, to dental health, cognitive development, emotional wellbeing, transplant experiences, and more. You do not need to be a writer. You do not need a dramatic story. You just need a relevant lived experience and a willingness to share it, on your own terms. If something resonates, reach out to Eszter directly at pacer@sdsalliance.org. We will figure out together whether your story is the right fit. All August Resources at a Glance School letter tool: www.sdsalliance.org/school-letter School guide: www.sdsalliance.org/school-guide DOI: https://doi.org/10.5281/zenodo.21316992 All SDS Alliance guides: www.sdsalliance.org/guides Share your story for the upcoming Essential Guide: www.sdsalliance.org/pacer-story Project PACER: www.sdsalliance.org/pacer Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below