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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

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) 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 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. Privacy and security are protected to the highest standard. 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

Resources for children to learn about and cope with Shwachman-Diamond Syndrome in fun and supportive ways Kids' Corner Presented by Ribo & Somi, the Ribosome Superheroes! Hello friends! This page is just for you, the kids in the SDS community. We have collected many fun videos and printables for you to learn about SDS, science, and the community. Have fun and keep on learning! Love, Ribo & Somi Downloadables &Printables Tip for parents: Do you have a kids' event coming up? A birthday party or a rare disease / SDS event at school? The Hero Kids in the Making Coloring Book and the Ribo & Somi Coloring Calendar are available printed and assembled. Check out the order links below. Allow at least three weeks for shipping and handling, or contact us for custom needs at connect@SDSAlliance.org . A coloring book with a lovely story written by an SDS dad and illustrated by an SDS child, to help replace fear of hospital and doctors' visits with fun, adventure, and imagination. Read more about how Elijah inspired his dad to write this story and how the coloring book came about, here . Download a printable PDF (English, letter size) version or order printed booklets, here . Other formats and printed copies are available upon request by emailing connect@sdsalliance.org . Please allow several weeks for printing and shipping. Now also in Spanish!!!! Download a printable PDF (Spanish, letter size) version or order printed booklets, here . Ribo & Somi's Coloring Calendar for coloring and learning We are seeking volunteers to help with translations into any languages not already done. New! The 2024 edition is available in English for download or in print, here: English (letter size) Other languages and formats are available by emailing connect@SDSAlliance.org Currently available: Español Français Magyarul Svenska Books From our friends at the Immune Deficiency Foundation, free download and/free hard copies available. Mixed Bag Videos Learn about DNA, genes, and chromosomes. This great video about DNA is also available in Spanish and Arabic. Learn about bone marrow, blood cells, and the immune system Learn about the digestive system, liver, and pancreas

Resources related to Shwachman-Diamond Syndrome for patients' and their families Welcome to the Family You are not alone! This section of our website offers you - patients and their families - resources and support. Please use the menu on top. We are currently working on a comprehensive new patient guidebook, creating and updating information materials and brochures , and more tools for you to get empowered -- become an SDS expert, raise awareness, contribute your insights and experience, and more. Newly Diagnosed? What is SDS? Parent and Caregiver Resources The Science Behind SDS Adult Patient Resources Kids' Corner Patient & Family Stories Drive Research through SDS-GPS

Resources for researchers, doctors, and other health care providers, related to Shwachman-Diamond Syndrome. Resources for Doctors and Researchers Join the SDS Alliance Network Diagnostic and Treatment Guidelines Research Tools Scientific Meetings

It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! Fundraiser October 2020 5 Million Steps Closer Annual Global Fundraiser The Event for You, Your Friends, Family, and Colleagues to Have Fun and Support Research. November 1-7, 2025! Note: This event has passed, and we are planning the next one. Let us know if you prefer spring or fall! Stay tuned! Anywhere (Virtual or Local if You Choose) Join the SDS Alliance's annual "Million Steps Closer" fun-run challenge fundraiser, a virtual event every fall. Turn hope into action and take steps to #CureSDS - you can walk, run, crawl, roll, swim, or lean back and support those who do by making a donation. The steps (and fitness) counting challenges are managed through a free app and are optional (see below). Register here! Team T-shirts Start or Join a Team! Support Research! This fundraiser is a fun and uplifting way to join us and make a difference. As always, 100% of funds raised from the community go to SDS research and infrastructure to accelerate therapy development, following our roadmap . By participating in this event, you are playing an integral part in driving progress! Roadmap Start a Team to Amplify Your Impact! Invite your family, friends, neighbors, colleagues, or classmates to participate! Registration is free! See the instructions below to learn how you can set up a fundraising page for your child, yourself, or a loved one, and easily invite others to join in your fundraising efforts! Strat a Team Curious about past events? Check out the results of our 2024 , 2023 and 2022 Million Steps Closer to #CureSDS fundraiser! Watch Rebecca's Video on Fundraising Tips and Tricks This presentation was part of SDS POPS 2025. T-Shirts Get in the Team Spirit with Team T-Shirts! This year, you can choose between multiple designs . Design 1 celebrates the Million Steps fundraiser with a sneaker with wings Design 2 celebrates Global SDS Awareness Day and Action Week with a November 7 design Order by October 1st to receive it in time for the event! Both can be customized with your team name . Email us at connect@sdsalliance.org with your team name and color preference, and we will set up a custom campaign page for you to share with your team. Specify whether you would like to distribute the T-shirt yourself locally, of id team members should be able to order and get their purchase shipped to them. Order Design 1 Order Design 2 Email Us to Customize The Details When? November 1-7 Where? Virtual! Run/Walk/Roll wherever you like! Plus local events hosted by community members. What? Fun!!! Fundraise and Run/Walk/Roll in your community! Why? To build community and raise funds for SDS research! Register now! Join the SDS Alliance's annual fun run challenge fundraiser! This is a virtual event and will take place November 1-7, 2025, to coincide with the Global SDS Action Week and Awareness Day . Everyone is invited to turn hope into action and take steps to #CureSDS - you can walk, run, crawl, roll, swim, or lean back and support those who do by making a donation. The steps and run challenges - step counting, miles, and more - will be managed on the count.it app . Registered participants will receive detailed instructions on how to join and/or create teams via email in October. The main challenge will be step-counting during the week of the event. Let us know if you would like to see additional types of fitness challenges! Invite your family, friends, and neighbors to participate! Registration is free! See the instructions below to learn how you can set up a fundraising page for your child, yourself, or a loved one, and easily invite others to join in your fundraising efforts! As always, 100% of funds raised from the community go to SDS research accelerating therapies, with no overhead! This year, we continue expanding the toolbox for SDS research and start to seed fund drug screens and development as part of our roadmap . Through fundraising and donations, you will play an integral part in driving progress! How to participate: Step 1. Register Register for the 5 Million Steps Closer to #CureSDS fun run by a) setting up a personal fundraising page (team), or b) supporting the fundraiser of your loved one! To set up a personal fundraising page (also known as a team), simply click "Start a Fundraiser" on our fundraising campaign page , follow the instructions, and customize it with your own content! Everyone loves to see photos of your SDS hero! Pro tip: Add a link to your custom T-shirt campaign from step 2! To register by supporting the fundraiser of your loved one, simply make a donation in any amount to their team/fundraising page! You may have already received the direct link to their page from them. If not, you can find the teams on the main fundraising page . Step 2. T-shirts (optional) Order the event T-shirt to get into the team spirit. We have general event T-shirts (see above ), AND we can create custom T-shirts customized with your team name. If you are a team captain, contact us to get your custom T-shirts up and running. Order by 10/01 to receive them in time for the event, and allow extra time for shipping outside the USA. Step 3. Spread the word Share your fundraising page via social media and email and start raising funds for SDS research! Expand your reach by asking family and friends to set up their own fundraisers or promote yours! Increase Awareness! Post photos with your family/friends during the event and let us know who you are running for! Use hashtag #StepsToCureSDS on all social media platforms! Step 4. Walk /run/roll... During the week of November 1-5, hook up your favorite tracker to the count.it app (instructions will be emailed to you) and start taking steps (walk, jog, roll, dance,...) to #CureSDS. Most importantly, have fun! Step 5. Get Rewards Your fundraising efforts are so important and impactful toward accelerating research for therapies and cures, we want to thank you and reward you for your efforts. Raise funds on your fundraising page and will send you the following*: Raise $50: Get a canvas tote bag* Raise $500: Get a tote bag, plus an awesome insulated stainless water bottle* Challenge winners in each category will get bragging rights and both gifts* above! *Items are subject to change, and we will reach out to you first to confirm your shipping address, preferences, and size. ~~~~~~~~~ Questions? Email us at connect@SDSAlliance.org

Meetings, symposia, congresses, and more, for scientists, researchers, doctors, and other health care providers. Meetings for Professionals and Other Stakeholders SDS PFDD Meeting Externally-Led Patient-Focused Drug Development Program (EL-PFDD) meeting for Shwachman-Diamond Syndrome. June 4th, 2025. Cinicnnatti, OH and Virtual via Zoom. Visit the SDS PFDD Info Page Catch up on the summary and video recording of SDS POPS 2024, our global virtual patient advocacy and partnering summit. SDS POPS Recording & Resources SDS Congress The next International Congress on Shwachman-Diamond Syndrome is scheduled for June 5-8, 2025 in Cincinnati, OH, USA. In-person only. For more information including agenda and registrations, visit the event website .

Shwachman-Diamond Syndrome Alliace's Vision and Mission: Improve patient's lives by accelerating reasearch, fostering international collaborations, and providing quality educational and awareness materials. Vision & Mission A Cure for SDS A Cure for SDS From the Founder, Dr. Eszter Hars, February 2020 “Mom, why do I have SDS? Why can’t I be like everyone else?” my daughter asks me… Imagine a world where SDS could just go away, life could be normal, and we could live without the fear that another shoe is going to drop… How can we get there? As a Molecular Biology PhD, a biotech executive, and the Mother of a sweet 6-year-old girl with SDS, I ponder this question every day. What is SDS? Shwachman-Diamond syndrome (SDS) is a rare disease that affects many parts of the body. Like many patients with SDS, my daughter has problems digesting and absorbing food. When she was little, every time she had my milk, she would be in so much pain that she would scream for hours, arching her back in agony. Can you imagine what that feels like to a mother? Even today, getting her to eat and grow is a constant struggle. Typical for SDS patients, my daughter also has a compromised immune system, which means a fever from a common cold can turn into a trip to the emergency room, or worse. On top of that, many SDS patients have skeletal problems. Some need their rib cages surgically expanded, just so they can breathe. Worst of all, SDS patients face a very high risk of developing leukemia at a young age―30% by age 30. Unlike leukemia in normal kids, which can be treated, leukemia in SDS patients is inevitably fatal. There is no treatment currently. It’s like living with a ticking time bomb. To mitigate the risk of leukemia, the current standard of care is bone marrow biopsy every year. The hope is to find pre-cancer clones early enough so that leukemia development can be stopped using bone marrow transplantation preemptively. However, bone marrow transplantation is a brutal process―it is a dangerous year-long ordeal and has serious long-term side effects. Bone marrow transplantation is really a last resort. Even so, biopsies cannot always catch bad clones, and bone marrow transplantation often fails to stop leukemia. A Cure for SDS What if therapy could be developed to stop blood cells from going bad and prevent leukemia development in the first place? Such therapy would correct the underlying problems of SDS and give us confidence that the bone marrow biopsy results would come back okay. We might not need bone marrow biopsy anymore! With such therapy, we would no longer have to worry about leukemia; we could expect our kids to have a normal life, as if SDS had just gone away; we could attend their graduation, dance at their wedding, and see their family grow... How wonderful would that be!? I believe that such therapy is nearly at hand. The science is there, and there are many types of therapies that can possibly get us there. These therapies have been applied successfully to several rare diseases: Sirolimus (repurposed drug) for Castleman disease Libmeldy (gene therapy) for metachromatic leukodystrophy Spinraza (antisense oligonucleotide drug) for spinal muscular atrophy Zokinvy (small molecule drug) for progeria Luxturna (gene therapy) for congenital amaurosis and retinitis pigmentosa Many more are in clinical trials (for severe combined immune deficiency, sickle cell anemia, and Fanconi anemia). Why isn’t it available for SDS? Therapy development is a complicated process that involves scientific research, disease modeling, drug development, clinical trials, regulatory approval, and patient participation. It requires many areas of expertise. We are very fortunate to have outstanding researchers and doctors who dedicate their careers to SDS, but there are still many gaps that they alone cannot overcome. The problem has to do with how medical research is funded. Before a researcher can start doing research, (s)he has to apply for a grant from a funding agency, which in the U.S. is primarily the National Institute of Health (NIH). The grant application process can take years and in the end, fewer than 10% of the applications get funded. A critical component of a successful application is early data, because the data demonstrate that the research plan is likely to succeed, and that the researchers have the ability to carry out the project. The problem with SDS research is that most researchers have never heard of SDS, let alone have sufficient data to get government grants. No data; no grant. And with no grant funding, there will be no research or early data. It’s a catch 22. Together, we can make it happen! We established the SDS Alliance to break this vicious cycle and enable therapy development. Our strategy is to: Provide seed funding to highly selected experts and help them generate early data to get government grants . Provide bridge funding to top researchers between government grants to keep research going . Partner with research institutions and companies to develop essential tools for therapy development. Organize patients to participate in research and clinical trials to enable new therapy development . Remember the successful therapies that I mentioned above? Every one of them is a direct result of these actions. The strategy works. All we have to do is replicate the success for SDS! When we succeed, we will be able to live freely without the fear of leukemia, and life will be normal as if SDS had gone away! The path is tried-and-true and YOU have the power to get us there. We need to take action NOW, because leukemia won’t wait. Please donate today. Let’s make it happen! Why isn't it available? Togethe we can make it happen! Donate

Swag is a fun and easy way to show your support while and raising funds and awareness. We strive to make it easy and attractive with items you will be proud to show off and help you feel part of a passionate committed community lased focused on making #CureSDS a reality. Shop for SDS Alliance Swag Swag is a fun and easy way to show your support while raising funds and awareness. It is also a fantastic opportunity to build community and work together towards our shared mission. We strive to make it easy and attractive with items you will be proud to show off and help you feel part of a passionate and committed community laser-focused on making #CureSDS a reality. We are continuously working on expanding our offerings. Please check back often and let us know if you would like to see specific items by emailing us at community@SDSAlliance.org or reaching out on Facebook. Our vendors can ship internationally. However, there may be extra charges and delays with shipping. If you are looking to get merchandise printed for an SDS Alliance fundraiser but closer to home, we are happy to share the design files. Simply email us at community@SDSAlliance.org . Shirts and more at our BONFIRE Store Available year-round. Visit www.bonfire.com/store/CureSDS Need Flyers, Brochures, and more for your next fundraising event? We are here to help. Email us at connect@SDSAlliance.org if you need hard copies. Flyer: What is Shwachman-Diamond Syndrome Personalized fundraising tools , such as flyers, cards, and fundraising web pages! We are here to help! Email us at connect@SDSAlliance.org .

Shwachman-Diamond Syndrome Alliance (SDS Alliance) news SDS Alliance News 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 2 days ago 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 9, 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

Patient Advocacy and Partneting Summit. The first, global, virtual event designed to engage all stakeholders and provide meaningful education and networking opportunities to patients, scientist, medical providers, industry representatives and regulatory stakeholders. POPS Global Patient Advocacy and Partnering Summit The first 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. REGISTER HERE! Registration is now closed. To access the recordings, log in to the meeting platform (below). For assistance or to request access, email Ashley Ferreira at outreach@SDSAlliance.org. Agenda Tentative, subject to change. All times in ET (New York Time) 10:00 AM - 11:00 AM Networking Breakout rooms with prompts to help build connections. All attendees and speakers welcome! 11:00 AM - 12:00 PM Welcome and Patient Stories Welcome by Dr. Eszter Hars ➲ Mother of an SDS Patient, President & CEO, SDS Alliance Featuring three SDS community members Gracie Van Brunt , Musician/Songwriter with SDS ➲ Lisa Superina , Mother of two children with SDS ➲ Julie Martindale , Mother of a teen son with SDS ➲ 12:00 PM - 12:20 PM Lunch Break See you back here in a few! 12:20 PM - 12:45 PM Reflections from the Scientific Congress The 10th International Scientific Congress on Shwachman-Diamond Syndrome took place this April in Cambridge, UK. Dr. Eszter Hars ➲ had the privilege to attend as a parent and will share with you a high-level overview of public information with context from published literature. We won't share any unpublished results or private discussions, of course. 12:45 PM - 1:45 PM Therapeutic Targets Introduction by Dr. Eszter Hars ➲ Featured Experts: Dr. Christian Brendel ➲ DNA Targeting and Gene Therapy Approaches Dr. Valentino Bezzerri ➲ RNA and RNA-Based Targeting Approaches Speaker TBD Protein and Ribosome Biogenesis Targeting Approaches 1:45 PM - 2:00 PM Coffee Break See you back here in a few! 2:00 PM - 2:40 PM How to make the Patient Voice count Overview by Dr. Eszter Hars ➲ Featured Expert: Dr. Alexandre Bétourné ➲ The Importance, Challenges, and Impact of Data Sharing in Rare Disease 2:40 PM - 2:45 PM Closing Remarks A summary of the Summit, with opportunities to get involved at every level. 2:45 PM - 3:30 PM Networking A fun activity for all to connect. All attendees and speakers welcome! Speakers In alphabetical order Dr. Alexandre Bétourné Alexandre Bétourné, Ph.D., Pharm.D., is Executive Director for the Rare Disease Cures Accelerator-Data and Analytics Platform initiative and previously served as its Scientific Director. Dr. Bétourné works with the RDCA-DAP team to expand its reach into new diseases areas accessing new data and enhancing C-Path’s relationships within the rare disease community. He holds both a PhD and a PharmD from the University of Toulouse in France, has three patents, and has written multiple papers that intersect with several different rare disease areas. Before joining C-Path, he led a team of senior U.S. scientists, CMC and regulatory consultants at a small company developing therapies for amyotrophic lateral sclerosis (ALS). Dr. Valentino Bezzerri Dr. Valentino Bezzerri is Principal Investigator, Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata di Verona, Italy. His 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. Christian Brendel 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. Dr. Eszter Hars Dr. Eszter Hars, Mother of an SDS patient, and Founder/President/CEO/Science Director of the Shwachman-Diamond Syndrome 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 hematopoeitic 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. Currently, Dr. Hars is President of a biotech startup that specializes in developing new tools for various new therapies, including CAR-T cell cancer therapy and beta cell replacement therapy for diabetes. 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. Through the SDS Alliance, Dr. Hars is dedicated to accelerating the development of new therapies for SDS. Julie Martindale Julie Martindale is the parent of Elijah, a 17 year old with SDS. Along with her husband Mark, they have raised 11 children, many who have medical complexities. Julie has worked to assure our children's stories are told and never forgotten. She holds a bachelors degree in psychology and two years advanced training in child welfare. Lisa Superina Lisa lives on Long Island, New York, with her husband and four daughters. Her two youngest daughters, Nora and Kayla, were genetically diagnosed with SDS after an extensive diagnosis journey - read their story, here. Lisa is a Special Education Teacher at Half Hollow Hills High School West in Dix Hills, New York. She has certifications from Birth-12th grade in Special Education, General Education, and English Language Arts and has a master's degree in Literacy. Lisa is passionate about helping the SDS community by supporting research and helping families advocate for their children. She jumped into action on the very same day her first child was diagnosed, raising funding, researching resources, and connecting with SDS families everywhere, and has not stopped ever since. Her drive and creativity have inspired countless other families to engage and she is an unstoppable positive driving force toward therapies and cures for people with SDS everywhere. In her role at the SDS Alliance, she helps find and support new SDS families, identify and offer new resources for families, and develop family educational materials and events. Gracie Van Brunt Gracie Van Brunt is a 28 year old singer/songwriter/topliner from Boston, MA. When she was two years old, she was diagnosed with a rare disease called Shwachman-Diamond Syndrome which affects her bone-marrow, skeleton and pancreas. There are an estimated 5,000 known cases world-wide. She spent the first 6 years of her life in and out of the hospital battling this illness and in 2019 received a bone-marrow transplant with her brother being her doner. Gracie started singing when she was 6 and writing when she was 12 and has written over 1,000 songs in her lifetime. After attending the prestigious Berklee College of Music and majoring in Songwriting for two years, she moved to Los Angeles to pursue her songwriting and vocal career. She is now cementing her place in electronic music with her ethereal, yet sultry vocals and infectiously catchy lyricism. The acclaimed singer, songwriter, recording artist and vocal producer has garnered over 4 million streams across multiple genres, emerging as one of EDM’s most versatile and highly sought after vocalists. With the electronic genre of Drum & Bass on the rise, she is leading the charge in spreading drum and bass across the states, with her massive collaborations with DNB icons like “Deep Blue” with Kanine, which has almost 2 million streams, and “Alone” with Culture Shock, which has almost a million streams along with her most recent collaboration, “Commencement” with Dubstep Legend, 12th Planet. Gracie’s 2022 live festival performances include Insomniac’s Beyond Wonderland, Project Z and Lost in Dreams Festivals, as well as Excision’s Lost Lands Music Festival. She also performed “Live For The Highs” with GAWM to a sold out crowd at Exchange LA located in Los Angeles, California. Gracie continues to be an advocate not only in the Shwachman Diamond Syndrome Community, but in the rare disease community in general appearing on patient panels, supporting families looking for guidance and sharing her story through her music. She is the recipient of the 2013 Rare Champion of Hope Patient Advocacy Award, has performed at many different Rare Disease Conferences and Galas including multiple times at the Global Genes Conference and is an advocate for all SDS patients. Dr. Alexander Betourne Dr. Velentino Bezzerri Dr. Christian Brendel Dr. Eszter Hars Julie Martindale Lisa Superina Gracie Van Brunt Dr. Alan Warren