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An overview of a wide range of research opportunities for Shwachman-Diamond Syndrome focused on advancing the knowledge of the lived experience with SDS and therapy development for Shwachman Diamond Syndrome. Opportunities to P articipate in Research & Clinical Trials Registries and Natural History Studies are critical for progress in clinical care and therapy development. We encourage all patients & families to participate in all registries available to them! See all SDS registries! SDS Alliance has been actively pursuing efforts to implement platforms and strategies to unite the existing registries and/or form collaborations collect and build a large, powerful set of genomic data to drive research add patient voices through a new, patient-driven, global patient survey and collaboration platform (data hub), and make all data more widely available to the larger research and transnational community. We are excited to announce that the program has come to live and is open for enrollment! SDS-GPS: a unique patient-powered global program Learn more about SDS-GPS All Regsitries SDS Patient LENS Study The SDS Alliance is launching an interview-based qualitative research study to learn about and document the Lived Experiences, Needs, and Stories of the Shwachman-Diamond Syndrome patient and caregiver community. The results of the study will help inform the focus areas of the EL-PFDD meeting with the FDA, the resulting Voice-of-the-patient report, and our research and programs priorities for years to come. Learn more about LENS

Join the network of professionals, doctors, researchers, patients, and caregivers to #CureSDS. Join the Network We envision a world where SDS is a manageable condition and all patients are able to live a full life to their full potential. Since SDS is a rare and complex disease, this vision relies on patients, caregivers, doctors, researchers, regulators, and other stakeholders to work together. We are currently updating our questionnaire and tools for new members. While under construction, please email us at connect@SDSAlliance.org for assistance.

We created a beautiful documentary film "Until There's a Cure" about the SDS journeys of four wonderful families, providing a new way for researchers and regulators to relate to and understand what it's like to live with SDS. The film had a significant impact at our EL-PFDD meeting. Now, we would like to expand the film by weaving in the story of a fifth SDS family, and shed light on what we as a community can achieve when we work together. Join us. SDS Documentary Film: Until There's a Cure We created a beautiful documentary film - titled "Until There's a Cure" - about the SDS journeys of four wonderful families, providing a new way for friends, families, researchers, and regulators to relate to and understand what it's like to live with SDS. Each story is unique, yet represents common experiences in the SDS community. The film had a significant impact at our EL-PFDD meeting . Now, we would like to expand the film by weaving in the story of a fifth SDS family, and shed light on what we as a community can achieve when we work together. We invite you to invest in this communication tool to inspire more people to help us accelerate our strategy and roadmap and reach our goal of clinical trials by 2030. Together, we can move mountains. To stay in the loop, subscribe to our mailing list . To invest in this work of art and to help advance our mission of giving SDS families more birthdays to celebrate, please consider making a gift today, or join our work as a monthly supporter. Thank you for your dedication to our community. For additional donation and fundraising tools, such as DAFs, Crypto, and personalized Fundraising Pages, please visit our donation page .

List and source of currently available research tools for Shwachman-Diamond Syndrome, and currently open projects. Research Tools & Data In an effort to accelerate preclinical research to drive projects toward translation to the clinic, we are actively supporting multiple projects to build the necessary research tools and infrastructure. See our strategy and roadmap here , and available options below. Mouse Models for SDS We have an active collaboration with The Jackson Laboratory to develop a humanized mouse model that includes the human SBDS gene, carrying the most common 258+2T>C "splice site" mutation. The original strategy resulted in embryonic lethality, and we are currently exploring new strategies and refinements. Results are expected in 2026. For questions, please contact us at connect@SDSAlliance. More information at our 2024 SDS POPS presentation , and Mouse model develop ment launched , meet the development team , phase 1 complete SDS Cell Biobank We have established a cell biobank at the Coriell Institute to collect and distribute patient-derived cell lines. Currently, they have LCLs, and we hope to add fibroblast this year as well. Please contact us at connect@SDSAlliance for details. More information at SDS Cell Biobank pilot complete , SDS Cell Biobank launched (soon) Fibroblast Patient-derived fibroblasts are available from our collaborators at the NIH. Please contact us at connect@SDSAlliance for details. iPSCs: We launched an iPSC development project in late 2022 to develop three iPSC cell lines in collaboration with the Coriell Institute and the UPenn Orphan Disease Center. The first line is expected to be available in Q3 2023. Additionally, we are working on developing isogenic pairs, which will become available in late 2023. Please contact us at connect@SDSAlliance for details. More information at iPSCs development launched Data Our survey platform, called SDS-GPS (Global Patient Survey and Collaboration Program) , launched in 2024. We are very interested in collaborations. We are also in close contact with many international clinical registries and would be happy to make introductions. Further. we successfully advocated for an ICD-10 code for SDS in the US, giving SDS visibility in the Medical Records data. Visit our ICD code resource page . Please reach out to 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 .

FREE guides and reports for in depth information on all aspects of living with Shwachman-Diamond Syndrome (SDS)! Guides and Reports Click to read, open, or download. If you need a hard copy, email us at connnect@sdsalliance.org to ask. Many of our resources are published on Zenodo and are citable. Visit our Zenodo community page to see all. Free download Go to Guide School Success with SDS A Guide for Students, Families, and School Teams Shwachman-Diamond Syndrome (SDS) is a rare inherited bone marrow failure syndrome that affects multiple organ systems — including the immune system, digestive system, skeleton, and brain — and presents significant challenges in the school setting. Despite its serious impact on learning, cognition, and daily functioning, most teachers, school counselors, and administrators have never encountered SDS before. Families are often the primary source of information for their child's school team. This guide was developed by SDS Alliance to provide practical, evidence-informed tools and strategies for students with SDS, their families, and their school teams. It covers the physical, cognitive, and psychosocial dimensions of SDS in the school context; how to navigate education plans and accommodations in an international framework; neuropsychological evaluation and its role in school support; key educational transitions from early childhood through college; and sample documents including a physician letter template, a family summary sheet, and accommodation language ready for use in formal education plans. A companion resource appendix covers finding neuropsychologists, understanding school rights, and managing learning differences, mental health, and social skills. A companion tool to create a letter to introduce the student to the school team is available at www.sdsalliance.org/school-letter The guide is written for an international audience. Where specific legal frameworks are referenced — such as the IEP and 504 plan processes in the United States — they are labeled as country-specific examples. The principles and strategies are broadly applicable regardless of country of residence. This guide is a companion document to Living with Shwachman-Diamond Syndrome: An Essential Guide, developed by SDS Alliance as part of Project PACER (PCORI Award EASO-42419), and inspired by the Voice of the Patient Report for Shwachman-Diamond Syndrome (Hars & Merker, 2026; doi: 10.5281/zenodo.20126868). Free download Go to Guide Fundraise Your Way to #CureSDS A Guide for Patients, Families, and the whole SDS community Shwachman-Diamond Syndrome (SDS) is a rare, multi-system genetic disorder affecting the immune system, bone marrow, pancreas, and other organs. There is no approved treatment. Accelerating therapy development for SDS requires not only scientific progress but sustained community engagement — including the active participation of patients, families, and supporters in fundraising efforts that signal community strength to research partners and funders. This guide, published by SDS Alliance — a US-based 501(c)(3) nonprofit organization dedicated to driving research and therapy development for SDS — provides a practical, accessible framework for community fundraising. It covers eight fundraising options ordered by effort level, from employer gift matching to organizing independent local events. It also includes storytelling guidance with an example and fill-in template, ready-to-use social media templates, an appeal letter template, a step-by-step guide to setting up a peer-to-peer fundraising page, and an overview of tools and support SDS Alliance provides to community fundraisers. The guide reflects SDS Alliance's broader philosophy that community fundraising in rare disease is not merely a revenue strategy but a form of clinical trial readiness infrastructure. The size, engagement, and organized participation of a patient community are signals that biotech partners, academic researchers, and major funders actively evaluate when deciding whether to invest in a rare disease indication. This is part of a series of community guides and educational resources published by SDS Alliance in support of its mission to reach clinical trials for SDS by 2030 to give SDS families more birthdays to celebrate. KEYWORDS: Shwachman-Diamond Syndrome, SDS, rare disease, patient advocacy, community fundraising, peer-to-peer fundraising, clinical trial readiness, rare disease research, gene therapy, patient engagement, nonprofit, community engagement RELATED LINKS: Guide landing page: https://www.sdsalliance.org/fund-guide SDS Alliance fundraising page: https://www.sdsalliance.org/fundraise SDS Alliance website: https://www.sdsalliance.org Free download Go to Report Voice for the Patient Report The official report from the Externally-led patient Focused Drug Development Meeting held June 4th, 2025 This Voice of the Patient Report summarizes the experiences and perspectives of patients and caregivers living with Shwachman-Diamond Syndrome (SDS), shared during the Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting held online and in Cincinnati, OH, on June 4th, 2025. The meeting was convened by the Shwachman-Diamond Syndrome Alliance (SDS Alliance) and attended by patients, caregivers, clinicians, researchers, and representatives from the US Food and Drug Administration (FDA). SDS is a rare, life-threatening genetic disorder that causes bone marrow failure, immune deficiency, exocrine pancreatic insufficiency, and a significantly elevated risk of leukemia, among other serious complications. There are currently no disease-modifying therapies for SDS. The report documents patient and caregiver perspectives on the burden of living with SDS, current treatments and their limitations, and priorities for future therapy development. Key themes include: frequent and severe infections due to neutropenia and immune deficiency, and their impact on daily life; challenges with the skeletal system, mobility, and pain; digestive issues (exocrine pancreatic insufficiency), liver, and failure to thrive; challenges with mental health and cognitive impacts; the fear of leukemia and its profound impact on daily life; the burdens and benefits of hematopoietic stem cell transplant (HSCT); need for disease-modifying and leukemia-preventing therapies, and The importance of treatment tolerability and formulation, including for pediatric patients. This report was prepared for submission to the FDA and is intended to inform drug development, regulatory decision-making, and research prioritization for SDS.

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. Coleman Lindsley, MD, PhD Assistant Professor, Medicine, Harvard Medical School and Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA Dr. Coleman Lindsley, M.D., PhD. is a physician scientist at Dana-Farber Cancer Institute, specializing in research topics associated with MDS. His career has developed in conjunction with his interest in how disease evolves, and in turn, how new and existing therapies can interrupt the process of disease progression. The clinical research focus he has chosen in addressing problems with MDS has led to work in two important areas; examining how the fundamental properties of MDS change over time, and the features of MDS that cause resistance to therapy. Dr. Lindsley’s efforts include longitudinal studies of individual MDS patients over time to track how their disease progresses, as well as large studies aimed at identifying shared genetic characteristics that may indicate patients’ responsiveness or resistance to therapies offered. The primary focus of the Lindsley laboratory is the biology and treatment of myeloid malignancies. We have used detailed genetic analysis of large cohorts of patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) to define genetic pathways of disease ontogeny and to identify mutations that predict overall survival after chemotherapy and stem cell transplantation. We use mouse and cell line models to dissect the mechanistic basis of genetic cooperation during myeloid disease progression, with a specific focus on mutations that cause epigenetic alterations. 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 2025 Impact Report: advancing patient-centered research, regulatory engagement, and therapy development for SDS. Impact Report 2025 Advancing Treatments for Shwachman-Diamond Syndrome Since its founding in 2020, the SDS Alliance has focused on a single goal: accelerating the development of therapies for people living with Shwachman-Diamond Syndrome (SDS)—so families can look forward to more birthdays to celebrate. This impact report reflects what your support has made possible: not only progress in research and regulatory readiness, but a growing, coordinated effort to ensure that future therapies are shaped by what truly matters to patients and families. Impact at a Glance FDA-facing PFDD meeting delivered In June 2025, we hosted a once-in-a-lifetime meeting for patient voices to be heard by the FDA, regulators, researchers, and doctors to focus on what matters. A comprehensive Voice of the patient report will be filed with the FDA in 2026. First SDS film documentary premiered We created a beautiful documentary film titled "Until There's a Cure" that serves to connect and impact regulators, researchers, and everyone else who can make a difference in SDS patient's lives. New Research Tools Shared Globally Research tools (cell lines, iPSCs, mouse models*) developed & shared with academia and industry worldwide. The mouse model is undergoing refinement and update are expected in 2026. 650+ patients visible via new ICD-10 code The new US ICD-10 code D61.02 for SDS went into effect in 2023, making SDS journey visible in over 650 patients in the health records. Peer-reviewed article on SDS advocacy In a first for the SDS patient community, we published an article in a peer reviewed journal on patient advocacy for research and therapy development, titled: From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. First patient via newborn screening pilot Because classic biochemical based newborn screening is not available for most rare disorder, we have advocated for SDS to be included on genomic based newborn screening pilot studies, such as project GUARDIAN and Genomics England. Recently, a pilot study in Belgium identified the first SDS patient through newborn screening, before symptoms could have led to a diagnosis. 70+ patients in 15+ countries joined SDS-GPS SDS-GPS is our Global Patient Survey Program to capture SDS patients and caregiver's experiences for research. It is IRB approved, fully consented, and meets strict regulatory guidelines. 115+ views of virtual conference SDS POPS Our annual virtual conference is making SDS research and information accessible to all. Not just the latest research, but the context, making the community clinical trial and research ready. FREE genetic testing options and resources People with SDS can only receive adequate treatment and options to participate in research with accurate diagnosis. We developed a resources to help EVRYONE who needs it access genetic testing for SDS for free. Behind each of these numbers is something harder to measure: momentum —the kind that moves a rare disease field from fragmentation toward real therapeutic opportunity. Why This Work Matters for SDS Shwachman-Diamond Syndrome is a rare, inherited bone marrow failure disorder that affects multiple systems in the body. Most critically, it carries a high lifetime risk of developing MDS and leukemia, which is often difficult to treat in SDS patients due to treatment-related toxicity and complications. That is why the SDS Alliance was created. For decades, families have lived with uncertainty: Will leukemia develop? Will treatments work? Will meaningful therapies arrive in time? This is what keeps our leadership - SDS parents themselves - up at night. Despite advances in genetics and precision medicine, there are currently no disease-modifying therapies approved specifically for SDS. Progress has been slow, not because the science lacks promise, but because rare diseases like SDS require coordination , infrastructure , and patient-centered strategy to move discoveries from the lab into the clinic. What Your Support Makes Possible All of our work is geared toward enabling and accelerating therapy development for Shwachman-Diamond Syndrome to improve and save the lives of people living with SDS. Our next big bold goal: Clinical Trials by 2030. We invest in three categories of work: Building and Sharing Research Tools Mouse models Cells and iPSCs Organoids and chips Biobanks Data and surveys Data sharing platforms Biomarkers and Endpoints Infrastructure Toward Clinical Trials FDA-facing EL-PFDD meeting Voice of the Patient report Clinical Trial Matching Patient education Genetic testing (diagnostic, prognostic, newborn screening, prenatal screening) Strategic Investment in Research Landscape and pipeline analysis Partnerships with vendors, industry, and academia Catalyst funding Rigorous research agreement to enable partnership Because of the foundational tools and infrastructure built over the past five years, the SDS Alliance is now positioned to strategically invest in translational research—including gene-based and precision therapies—with clear milestones, accountability, and patient benefit at the center. Read on for select highlights. Building and Sharing Research Tools Globally Research and Regulatory Infrastructure Advancements SDS Global Patient Survey and Collaboration Program: SDS-GPS The SDS Alliance expanded SDS-GPS, a global, IRB-approved patient-reported data platform designed to capture lived experience across the lifespan. Key features include: Patient-owned data with informed consent Validated, standardized surveys Available in multiple languages (English, Spanish, French, German, Italian) Accessible worldwide To date, 70+ patients from more than 15 countries have enrolled— creating one of the most comprehensive patient-reported datasets in SDS. This data enables: Identification of meaningful outcomes and patient priorities Better clinical trial design More accurate representation of the full SDS experience Click to join SDS-GPS or learn more 75+ Patients 25+ adults living with SDS self enrolled; 50+ children enrolled by parents 15 Countries Participants can join from anywhere in the world and represent all major regions 5 Languages Platform, consent forms, and surveys in English, Spanish, French, German, Italian We shared a poster on SDS-GPS at the International Scientific Congress on Shwachman-Diamond Syndrome in Cincinnati, OH, June 2025 -- and are now in active discussions with several researchers around the globe to build new collaborations to grow theimpact of the patient voice. Mouse Mouse Models: New Momentum We are pushing full steam ahead on two complementary SDS mouse models. The first is a project in collaboration with the Jackson Laboratory that seeks to "humanize" the mouse genome by introducing the human SBDS sequence and the most common SDS mutation (the "splice site mutation"). This project got off to a great start in 2021, with the genetic engineering completed in 2022. However, the biology didn't perform as hoped, as mice are not human, after all: the mice with the human SBDS mutant gene turned out to be non-viable. Based on this learning, we explored multiple strategies to overcome the lethality. We learned a lot, but it didn't result in viable mice. We shared these results at the International SDS Scientific Congress in Cincinnati in 2025, seeking feedback. Earlier this year, we partnered with new experts from industry to provide fresh ideas, which are currently being tested by the Jackson team. Results are expected in 2026. The second project applies a groundbreaking new technique called iHSC engraftment, a collaboration with The Murdoch Children's Research Institute in Australia. Patient blood cells are reprogrammed into iPSCs, expanded, and then reprogrammed into engraftable iHSCs (induced Hematopoietic Stem Cells). These cells are then engrafted into immunodeficient mice, similar to how transplants are performed in human patients. The results are mice with humanized bone marrow. If the cells come from an SDS patient, then the bone marrow would genetically reflect SDS. Watch the presentation at SDS POS ICD First ever ICD-10 Code for SDS (D61.02) The successful establishment of a U.S. ICD-10 code for SDS in 2023 made patient journeys visible within electronic health records for the first time—unlocking real-world data for over 650 patients in the first 18 months alone. This tool, while technical, is essential for: Health system research Outcomes analysis Future clinical trial planning Learn more about ICD-10 here Infrastructure Toward Clinical Trials Turning Patient Voices Into Progress Families affected by SDS are already carrying an extraordinary burden. They cannot—and should not—be expected to fund cures from start to finish or drive research strategy on their own. What families can do is make their voices heard, participate in research and research planning, and show that the community is ready for therapy development and working toward a cure. The SDS Alliance’s role is to translate that engagement into accelerated progress: Turning lived experience into structured data Turning data into research priorities Turning priorities into progress : partnerships, funding, and R&D programs Community support goes far beyond dollars. It demonstrates readiness. It builds trust. It unlocks collaboration. Elevating the Patient Voice in Regulatory and Research Decisions Therapies cannot move forward unless regulators, researchers, and developers understand what it is truly like to live with SDS—and what outcomes matter most to patients and families. Patient-Focused Drug Development (PFDD) Meeting to Bring the SDS Patient Voice the FDA In June 2025, the SDS Alliance convened an FDA-recognized Patient-Focused Drug Development (PFDD) meeting, bringing together patients, caregivers, clinicians, researchers, and regulators. Patients and families spoke about: Daily challenges of living with SDS, such as fatigue, pain, mobility, and digestive issues The emotional and physical toll of ongoing leukemia surveillance The profound fear associated with leukemia risk—and the importance of reducing that risk, even if other symptoms remain unchanged Following the meeting, FDA staff reflected on what they heard, affirming that reducing the risk of leukemia alone could represent a meaningful benefit for the SDS community. That recognition directly informs how future therapies may be evaluated. The full 5-hour PFDD meeting recording remains publicly available and continues to serve as a reference for patients, caregivers, researchers, and regulators who were unable to attend live. To date, the recording has garnered: 150+ unique viewers recording has been viewed by more than 150 unique individuals 275+ hours watched generating over 275 hours (11+ days) of cumulative viewing time perpetual resource serves as a reference for patients, caregivers, researchers, and regulators The PFDD meeting and resulting Voice of the Patient Report (coming soon) now serve as formal, citable resources to support drug development and regulatory review. Watch the PFDD recording and learn more Capturing and Sharing Lived Experience Through Film To further elevate patient voices, the SDS Alliance produced a deeply moving 30-minute documentary film, shining a light on four SDS families: Until There’s a Cure . Created to complement the PFDD meeting, the film ensures that voices unable to be speak—including patients who passed from SDS complications and individuals unable to communicate verbally—are still heard. The film: Humanizes the science Helps regulators understand what is at stake Motivates researchers and partners to engage Inspires action, not just awareness Now published as a standalone resource, the film continues to serve as a powerful tool for education, advocacy, and collaboration. Watch the film for FREE Closing the Information Gap Between Patients and Therapy Development Providing Patients and Families with the Insights into Research and Progress they Deserve For many years, individuals and families affected by Shwachman-Diamond syndrome (SDS) had limited access to timely, reliable information about research and therapy development—including discovery and pre-clinical (early stage) research. We are closing this gap by ensuring that patients and caregivers have access not only to the latest research updates, but also to the context needed to understand and engage with therapy development. Through initiatives such as SDS POPS —our annual virtual conference now in its third year— we share where projects sit in the clinical trial and drug development pipeline; what steps are required to advance research toward an Investigational New Drug (IND) application; how regulatory pathways work; and what timelines and uncertainties to anticipate. We also highlight alternative and complementary pathways that may be necessary to move promising therapies forward. POPS 5+ Hours of highly engaging and relevant content 10 Experts in SDS research and therapy development 115+ Views easily accessible on YouTube + translations By increasing transparency and shared understanding, SDS Alliance supports clinical trial readiness and helps patients and families participate as informed, essential partners throughout the research lifecycle—not only as trial participants, but as contributors to research prioritization, endpoint selection, and regulatory dialogue. This approach strengthens collaboration across the patient, academic, industry, and regulatory communities, with the goal of accelerating safe and meaningful therapies for people living with SDS. Catch up on SDS POPS 2025 See Agenda and Learn More Strategic Investment in Research Looking Ahead: From Readiness to Therapies With foundational infrastructure in place, the SDS Alliance is focused on what comes next: Advancing biomarkers and endpoints that support leukemia risk reduction Supporting IND-enabling work for promising therapeutic programs Strengthening global collaboration across academia, industry, and regulators Our shared goal remains clear: enable clinical trials for SDS by 2030—not as an endpoint, but as a gateway to lasting progress. Funding Strategy: Strategic Investment With foundational infrastructure in place, the SDS Alliance is focused on what comes next: Strategic, catalytic investments Clear research agreements w/ milestones & deliverables, builds long-term partnerships and impact Partnerships designed to attract larger follow-on funding Pipeline of Therapies for Shwachman-Diamond Syndrome The Programs We Follow and Support. With foundational tools and infrastructure in place, we are ready for the next steps: Advancing biomarker and endpoint development and selection to support patient priorities, such as leukemia risk reduction Supporting IND-enabling work for promising therapeutic programs Strengthening global collaboration across patient communities, academia, industry, and regulators We are staying laser-focused on our shared goal: clinical trials for SDS by 2030—not as an endpoint, but as a gateway to lasting impact toward giving SDS families more birthdays to celebrate. Looking Ahead: From Readiness to Therapies With Gratitude The progress reflected in this report is the result of a broad, collaborative effort. We are deeply grateful to the individuals, families, experts, funders, and partners who have contributed their time, expertise, trust, and lived experience to advance therapy development for Shwachman-Diamond Syndrome. Our Patient and Caregiver Community Above all, we thank the SDS patient and caregiver community. This work would not be possible without individuals and families who chose to share their lived experiences to advance research—even when doing so meant revisiting difficult topics, while navigating the daily realities of living with or caring for someone with SDS. We are grateful to participants in the SDS-GPS registry program , contributors to community surveys, individuals and families who participated in the FDA-facing Patient-Focused Drug Development (PFDD) meeting , and those who shared their stories through our documentary film and other initiatives, such as the story section of our blog . We also thank community members who support others through peer-to-peer connection, mentoring, and quiet acts of kindness—often behind the scenes, and always with generosity. Meet our SDS Expert Advisors Meet our Strategy Advisors A heartfelt thank you to our colleagues and mentors from other patient advocacy organizations who have generously shared their experience, insights, and encouragement. In particular, we are grateful to leaders from research-focused organizations in the cancer predisposition space, including the Fanconi Research Fund and the RUNX1 Research Program , for their openness, mentorship, and willingness to make connections to advance the field. Our Staff and Volunteers We are also deeply appreciative of our staff and volunteers—a small, dedicated group whose commitment, professionalism, and persistence make this work possible every day. Their efforts ensure that community trust is honored and that resources are used responsibly and strategically in service of patients and families. Meet our Team . Our Grant Partners We are especially grateful to our major grant partners, including the Chan Zuckerberg Initiative (now bi[o]hub)'s Rare as One Program , and PCORI's Eugene Washington Engagement Award Program , for their confidence in SDS Alliance’s mission and approach. Their support enabled us to build essential research tools, infrastructure, and patient-centered programs—laying the groundwork required to advance toward patient-centered research and clinical trials. These partnerships represent more than financial support; they are a strong endorsement of a strategy rooted in coordination, rigor, and long-term impact. Our Advisors, Mentors, and Scientific Partners We extend our sincere thanks to the members of our SDS Medical and Scientific Advisory Board and Strategy & Therapy Development Advisory Board , whose guidance has been essential in shaping our scientific priorities, regulatory strategy, and investment approach. Their expertise helps ensure that SDS Alliance initiatives meet the highest standards of scientific rigor while remaining grounded in patient-meaningful outcomes. We are also grateful to the researchers, clinicians, and drug development experts who have collaborated with us, presented at SDS Alliance meetings and events, and engaged thoughtfully with the SDS community. Their willingness to work in partnership with patients and caregivers strengthens the entire research ecosystem. Learn about the CZI Grant Learn about the PCORI Award Our Donors We thank the many donors who have supported SDS Alliance over the years. While some have chosen to remain private, their generosity has played an important role in demonstrating community commitment and enabling strategic partnerships and investment in research. You were instrumental in making this work possible. 15+ Expert Advisors on our boards, and many more behind the scenes lent their expertise 2 Major Grants awarded to the SDS Alliance to fuel this work with funds and resources 1008 Individual Donors showed broad community support and commitment to date since 2020 To everyone who contributed expertise, trust, time, or resources—thank you. Together, we are laying the groundwork to advance therapies and create a better future for individuals and families affected by SDS. How You Can Be Part of the Future There are many ways to move this work forward: Participate in SDS-GPS and other research efforts Share your experience to inform priorities Engage as a collaborator or partner, for example, through Project PACER Support strategic research investment through a donation , if you are able We use community contributions strategically to maximize impact—ensuring that every effort advances toward therapies for children and adults living with SDS. There are many ways to provide financial support , from a simple donation to monthly support to special event fundraising to DAF and Crypto, and more. We make it easy. Visit our Donation Page.

The goal of this patient-focused meeting is to provide the U.S. Food and Drug Administration (FDA), product developers, clinicians, and academic researchers an opportunity to hear perspectives from individuals with Shwachman-Diamond Syndrome (SDS) on the health effects and daily impacts of their SDS, treatment goals, and decision factors considered when seeking out or selecting a treatment. SDS PFDD Meeting EL-PFDD Meeting for Shwachman-Diamond Syndrome Live Stream Overview Participate! Agenda Speakers Reports Contact The raw recording is now available below. Click on the play button on the player (bottom left), not the big button in the middle. The program starts about 26 minutes in. The documentary film starts at about 3:27. A trimmed video will be shared soon. Patients/Caregivers: Please share your experiences by July 4th! PFDD Live Stream Hosted by: In Partnership with: With financial support from: This project is funded through a Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington PCORI Engagement Award (EASO-42419) Participate during the live meeting on June 4th! The meeting and comment period are now closed. Thank you for your participation. The report is now available below. Live audience polling will be available during the meeting through any mobile device or computer with an internet connection. Easy instructions will be shared during the meeting, and linked here: https://pollev.com/curesds Live call-in via Zoom (voice only). Click here to join the Zoom . It's like a green room, where our screeners will ensure you are ready before we proceed. Meeting ID: 865 7720 8796 Passcode: 090873 Find your local number: https://us02web.zoom.us/u/koiJWmzwE Submit a comment via voice mail or text at +1 617-329-1838 . Please include your first name, and country, at a minimum. Also available for 30 days after the meeting. Submit a comment via email at patientvoice@sdsalliance.org . Please include your first name, and country, at a minimum. Also available for 30 days after the meeting. Complete the 20-minute Community Survey here. It focuses on the topics and questions of the SDS PFDD meeting. PFDD Overview What is an EL-PFDD (Externally-Led Patient-Focused Drug Development) meeting? In short, the SDS PFDD meeting is a very special and unique opportunity for patients and families to come together and share our voices and stories with the purpose of accelerating research and improving care. The meeting is part of our "100 Voices to #CureSDS" campaign and is bound to be the biggest and most impactful gathering of SDS patients and their families, along with the FDA, researchers, and industry. Don't miss it! The meeting is an Externally-led Patient-Focused Drug Development meeting, which is a special type of meeting developed by the FDA to give FDA and other key stakeholders, including medical product developers (pharma/biotech companies), health care providers (doctors), researchers, and the general public, a unique and important opportunity to hear directly from patients and their families/caregivers, and patient advocates about: the symptoms that matter most to them, the impact the disease has on patients’ daily lives, and patients’ experiences with currently available treatments. This input can inform FDA’s decisions and oversight both during drug development and the review of a marketing application. It can also help inform medical product developers about the unmet needs and priorities of people living with a particular disorder. The meeting will be live-streamed right here. After the meeting, the recording and a meeting summary in the form of a voice-of-the-patient report will be prepared and published on this page. In these meetings, the patient’s experience is brought to the forefront for the FDA and all other stakeholders to gain a deeper understanding of the condition, in this case, Shwachman-Diamond Syndrome. “Externally-led” refers to PFDD meetings that are led by organizations outside of the FDA. Learn more about PFDD in the video below. The meeting -- as part of the 100 Voices to #CureSDS campaign - is focused on capturing, amplifying, and sharing the Patient Voice to accelerate the development of therapies and cures for people with Shwachman Diamond Syndrome. In addition to the meeting, the campaign includes surveys, interviews, and a resulting publication called the Voice of the Patient Report, which will serve as a resource for regulators and researchers to incorporate the patient perspective into all aspects of research, therapy development, and regulatory decision making. SDS Community Chat to learn about the SDS PDFF meeting Thursday, 1/23 4 pm ET Registration is now closed. Watch the recording here. PFDD Participate How can SDS patients, families, and caregivers participate? The purpose of the EL-PFDD meeting is to amplify and share the "patient voice". Your voice . We want to hear from the entire patient community: patients and families dealing with more severe or milder manifestations of SDS, young and old, from diverse backgrounds and socioeconomic opportunities, before and after transplant, common or rare complications and experiences, and more. You can share your voice and have an impact on the future of SDS in many ways, including during, before, and after the meeting. Participation is voluntary. You can choose as many ways to participate as you like. The more the better. Participate LIVE online or in-person Register today. Free! In-person attendees : Register by May 26th. You will receive a FREE T-shirt . Travel support is available to qualifying families. Email us to inquire. Virtual attendees: Participate vi a polls, text, chat, voicemail, or live call-in. Details on top of this page and via email to registered participants. [Registration now closed] Fill out the community pre-meeting SURVEY To share your experience with SDS and to get familiar with the topics we will discuss at the meeting, fill out the anonymous PFDD survey . The survey will take 15-30 minutes to complete. The survey is IRB-approved. Results will be shared at the PFDD meeting and become part of the resulting Voice of the Patient report. Complete by May 28th. [Survey now closed] Join as a speaker/ panelist (in-person*) To apply to be considered a speaker/panelist (in person in Cincinnati, OH, on June 4th, 2025), fill out this form by 2/1/25 . Selected speakers/panelists will receive coaching and speaker training to develop and deliver their talks effectively. Travel, accommodation, and childcare costs will be covered by the organizer. [Applications now closed] Join the SDS Patient LENS Study To share your experience through an interview-based research study (SDS Patient LENS Study ), indicate your by filling our the informed consent form on the SDS-GPS platform. You can then schedule the interview at a time that is convenient for you. The study is IRB-approved and will start enrolling in late January or mid-February. The results of the study will be de-identified before analysis and publication and will inform PFDD planning, documentation, research prioritization, and other opportunities. Apply by 3/3! [Applications now closed] * COVID-19 policy for in-person attendance of the PFDD meeting and all meetings hosted by the SDS Alliance: SDS causes immune deficiency. As such, we take COVID-19 precautions especially seriously. We follow all local guidelines relevant to COVID-19 management. We welcome and encourage facemasks, including N95s, for the protection of yourself, your family, and the community. If you have any sign of a communicable disease, or have been in close contact with someone who has, please change your attendance to online instead of in-person. We are happy to accommodate your needs and enable full participation remotely. Please reach out to our team with any questions. PFDD Agenda View Agenda PFDD Reports Voice of the Patient Report for Shwachman-Diamond Syndrome Following the EL-PFDD Meeting on June 4th, 2025, we compiled a report in accordance with FDA's guidance. It is now published on Zenodo and available to download for free . If you have difficulties downloading from Zenodo, try this link . To request a printed copy, please email us at patientvoice@sdsalliance.org . This and other key publications about Shwachman-Diamond Syndrome are also available on the SDS Alliance Publications page. Access Report on Zenodo for Free More on our Publications page © 2026 Shwachman-Diamond Syndrome Alliance. This report is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0). It may be freely shared, cited, and adapted with appropriate attribution. We respectfully request that the SDS Alliance be acknowledged if any part of this report is used or adapted. Organizations intending to use this report for commercial purposes are warmly invited to contact us at patientvoice@SDSAlliance.org — we welcome the conversation. Please contact Eszter Hars, CEO, Shwachman-Diamond Syndrome Alliance, or other members of the SDS Alliance team at patientvoice@SDSAlliance.org for questions related to this report. PFDD Contact Contact Us For any questions, comments, and feedback, please contact the "SDS EL-PFDD" organizing team at patientvoice@sdsalliance.org or (+1) 617-329-1838. Our programs, including this EL-PFDD meeting, are made possible through support from our donors, partners, and sponsors like you. Thank you. If you or your company would like to support our work please reach out to our PFDD team at patientvoice@sdsalliance.org .

FREE downloadables to share awareness and knowledge about Shwachman-Diamond Syndrome! Media Kits & Downloads Rare Disease Day (Last Day of February) Download, share, and like by clicking on the images below. Upload to share on your social media and other channels of choice, or share using our original Facebook post . Childhood Cancer Awareness Month (September) Download, share, and like by clicking on the images below. Upload to share on your social media and other channels of choice, or share using our original Facebook post . Load More Global SDS Awareness Day and Action Week (November) Download, share, and like by clicking on the images below. Upload to share on your social media and other channels of choice, or share using our original Facebook post .

Thank you for your interest in rallying support to #CureSDS! As a rare disease community, our strength lies in our personal connections. When you share your family’s journey, you aren’t just asking for a donation — you are putting a face to SDS, raising important awareness, and building a community of advocates. These are all stepping stones to achieve our goals, together. Fundraise Your Way to #CureSDS Thank you for your interest in rallying support for Shwachman-Diamond Syndrome Alliance and our shared mission to #CureSDS! As a rare disease community, our strength lies in our personal connections. When you share your family’s journey, you aren’t just asking for a donation — you are putting a face to SDS, raising important awareness, and building a community of advocates. These are all stepping stones to achieve our goals, together. We know that life with SDS is incredibly busy and at times extremely challenging. Your family's health and well-being always come first. There is absolutely no pressure. The beauty of community fundraising is that every single effort, no matter how big or small, adds up to a massive impact. It’s about doing what you can, when you can, to feel connected and proactive. Every dollar raised and every conversation sparked brings us closer to: Clinical Trials by 2030 — ultimately, giving SDS families more birthdays to celebrate. Click to open the Guide Ways You Can Help Whether you want to support from home or bring your local community together, we have options to fit every family's schedule, energy, and comfort level: ① Double your Impact with Employer Matching Many companies and organizations match employee donations to nonprofits like ours — meaning your gift, or the gifts you raise from colleagues, could be doubled or even tripled at no extra cost to you. It takes about five minutes. Search for your company, then follow your employer's instructions to submit a match request. SDS Alliance is a registered 501(c)(3) nonprofit (EIN 84-4654297) and will provide any documentation your employer needs. Look up your employer ② Make Introductions Do you know someone at a company — an employer, a local business, a foundation — who may want to support your family, our shared mission, and SDS research? You don't need to make the pitch yourself. A simple introduction can open doors and lead to a big impact. SDS Alliance has a full sponsorship program with partnership opportunities at every level. Email us at gifts@sdsalliance.org to make an introduction or request our sponsorship package, and we will take it from there. ④ Send a Holiday Appeal Turn your annual holiday card mailing into an easy way to raise funds and awareness. We can help you draft a short, personalized family message to include with your cards, or we can even print and mail a beautiful, custom appeal letter directly to your friends and family list on your behalf. Whatever works best for you. Holiday Appeal ⑤ Rock Our Cause (T-Shirt Fundraisers) T-shirts are a fantastic, visual way to raise awareness and funds simultaneously. We have a selection of fun and beautiful designs ready to go in our official Bonfire store. You can use these designs as-is to launch an apparel fundraiser, or our team can help you customize them with your team name or inspiring message! If you're feeling creative, you can even design your own custom apparel to benefit the cause. ③ Pledge Your Birthday or Special Occasion Make your next milestone extra meaningful. Instead of traditional gifts, you can invite friends and family to donate to the SDS Alliance for your birthday, anniversary, or wedding. We can help you set up a simple Facebook fundraiser or a customized GiveLively digital campaign to make sharing your page with loved ones a breeze. ⑥ Low-Lift Partnership Fundraisers Consider coordinating a simple partnership campaign. Programs like hosting a virtual Pampered Chef cooking party are incredibly low-lift. While these may be lower reward than a large-scale event, they are a steady, simple way to show your support and do something positive without overwhelming your schedule. ⑦ Join Our Annual Virtual Event: Step Up to #CureSDS Launch a team for Step Up to #CureSDS (www.sdsalliance.org/steps), our annual virtual step-counting and fitness challenge. It is a wonderful, low-pressure way to connect friends, family, neighbors, and coworkers from all over the world to walk, run, or move together in honor of your loved one. ⑧ Create Your Own Local Event From a neighborhood lemonade stand, backyard bake sale, or school dress-down day to a charity golf tournament, creating your own independent event is a wonderful way to bring your immediate community together. Real Stories, Real Impact I used to feel overwhelmed thinking I had to plan a massive gala to make a difference. But when we started small, with a customized t-shirt drive and joining the Step Up to #CureSDS challenge, I realized how much our friends and family wanted to support us. They just needed a simple way to do it. It didn’t take over our lives. It gave our family a profound sense of hope and control. — Rebecca, mom to Declan (age 9, living with SDS), NJ, USA Rebecca presented her family's experience at SDS POPS 2025 — our annual virtual SDS Patient and Advocacy Summit. The video below takes you right there, to her section. Tools We Provide to Make it Easy We want to take the administrative burden off your shoulders so you can focus entirely on your community. When you partner with us for an event, the SDS Alliance can provide: Personalized Digital Fundraising Pages We will help you set up your own customized fundraising page powered by GiveLively, making it simple and secure to collect online donations AND tell you story. You just add a photo of your SDS hero and a brief note, and you're ready to share! To get started, ① click on Start a Fundraiser on any of our GiveLively fundraising pages. ② Add a photo and your brief story, and ③ share your page with your network. See our guide, linked above, for more details. Custom Graphics, QR Codes, and Text-to-Donate We can generate custom flyers, letters, or digital cards complete with a dedicated QR code or a "Text-to-Donate" code, making it incredibly easy for people to give instantly from their mobile phones -- at your event or anytime, anywhere. We can even help set up a custom T-shirt campaign for your community! SDS Alliance-Branded Materials We can supply flyers, brochures, and literature to distribute at your event. We can even ship a pop-up banner to anchor your event. Promotional Support As staff time allows, we can help you craft letters, emails, press releases, and flyers to spread the word. Official Authorization We will provide an official letter of authorization to validate the authenticity of your event and its organizers to prospective sponsors or donors. Donor Transparency When you use your customized fundraising page on GiveLively, you will be able to see who has donated to you campaign and how close you are to your fundraising goal! This will help you thank your donors and community. How Your Contributions Make a Giant Impact We don’t just throw funds at a single, isolated project. Instead, we use a smart portfolio approach. We think of it as tending a garden of cures. When you fundraise or give to the SDS Alliance, your dollars act as the water and nutrients that fuel this entire ecosystem: Nourishing the Roots: Your support builds essential research tools and infrastructure—the underlying soil that all scientists need to move SDS research forward, effectively. Tending Multiple Sprouts: We fund multiple therapy paths at the same time. By helping different ideas grow simultaneously, we ensure that if one path hits an unexpected roadblock, other treatments are already growing right behind it. Sprouting New Projects: We constantly plant new research and infrastructure seeds, tracking down fresh collaborations and expand our global community of experts. In this garden, our patients and families are the Sun . Your energy, your personal stories, and your collective participation are what draw academic researchers, biotech partners, top advisors, and major funders to our ecosystem. Together, we are keeping these budding cures growing every day —to bring clinical trials to reality by 2030 and give our families more birthdays to celebrate. Friendly Guidelines & Limitations To protect your family and ensure our community's fundraising aligns smoothly with legal and organizational policies, all independent activities (known as "Third-Party Events") just need to follow a few standard guidelines: Clear Branding: Promotional materials must make it clear that the SDS Alliance is the beneficiary of the event, not the host. For example, please use names like "The Jane Doe Golf Tournament, benefiting SDSA " rather than "The SDS Alliance Golf Tournament". Logo Approvals: Any materials featuring the SDSA logo (including flyers, custom t-shirts, and posters) must be reviewed and approved by the SDS Alliance prior to printing or online distribution. Email us at connect@SDSAlliance.org Expenses and Tax Exemption: Event organizers are fully responsible for event planning, safety, and expenses. SDS Alliance cannot advance funds, reimburse expenses, or extend its tax-exempt status for event purchases. We highly recommend securing local event sponsors or charging a registration fee to cover your overhead costs. What We Cannot Provide: Please note that legally, SDS Alliance cannot provide insurance or liability coverage for independent events, mailing lists of our existing donors or vendors, official SDS Alliance stationery, tax receipts for donations not made directly to the SDS Alliance, celebrity booking (wish we could :)), or staff attendance. For all details, please check out our Gift Acceptance Policy, linked in the footer of this website. Ready to do something special? We are so incredibly grateful to have you in our community. If you want to chat about an event idea or best practices, customize a Bonfire T-shirt design, set up a GiveLively page, or become a Monthly Giving Ally, please reach out to us at gifts@sdsalliance.org . We are in this together! current fundraisers Current & Upcoming Fundraisers Past Fundraisers

Your support helped us create and publicise the patient voice and research tools and infrastructure to enable and accelerate tehrapy development for Shwachman-Diamond Syndrome. Here are some highlights. SDS Alliance Publications Your support helped us create and publicise the patient voice and research tools and infrastructure to enable and accelerate tehrapy development for Shwachman-Diamond Syndrome. Here are some highlights. Publications in Peer Peviewed Journals From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. Hars ES, McReynolds LJ.Clin Pharmacol Ther. 2024 Dec;116(6):1377-1380. doi: 10.1002/cpt.3393. Epub 2024 Jul 22.PMID: 39039619 Click here for context Posters & Presentations at Scientific Conferences Our poster on SDS-GPS at the International Scientific Congress on Shwachman-Diamond Syndrome in Cincinnati, OH, June 2025. Publications about us and our work Case Study about our work and impact, published as part of the Chan Zuckerberg Initiative, Rare as One, Impact Report . Published online October 2025.