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

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.

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 .

A comprehensive resource for SDS Patients and Families to learn all about Shwachman-Diamond Syndrome, science, research, drug development, and more, in a variety of formats to facilitate learning. Knowledge is power. The Science Behind SDS SDS Key Concepts Series Formerly "Spotlights". 10-minute videos on key concepts in SDS and research SDS Science Spotlight: The Genetics of Shwachan-Diamond Syndrome (SDS) This spotlight video on the genetics of SDS summarizes all the basics you need to know about the genetics and inheritance of Shwachman-Diamond Syndrome, in an easy-to-understand format. SDS Science Spotlight: Clones and Clonal Hematopoiesis in Shwachan-Diamond Syndrome (SDS). This spotlight video on clones in SDS introduces the concept of clonal hematopoiesis, as relevant to Shwachman-Diamond Syndrome, in an easy-to-understand format. SDS Science Spotlight: What are Ribosomes and what is their Role in Shwachan-Diamond Syndrome (SDS)? This spotlight video on Ribosomes and SDS explains what Ribosomes are and how they relate to Shwachman-Diamond Syndrome, in an easy-to-understand format. SDS Science Spotlight: What are Humanized Mouse Models and why are they important for Shwachan-Diamond Syndrome (SDS) therapy development? This spotlight video on Humanized Mouse Models for SDS explains what mouse models are, what new models are needed, and insights into the SDS Alliance and The Jackson Laboratory collaboration to move Shwachman-Diamond Syndrome therapy development. Gene Therapy for SDS An Interactive Guide for Patients and Families Ask an Expert - Community Chat Online Monthly Webinar Series Posted recordings Ask an Expert: Dr. Valentino Bezzerri on Ataluren and Progress in Shwachan-Diamond Syndrome (SDS) This video on Ataluren and SDS explains how this nonsense suppressor drug works and the status of research as it relates to Shwachman-Diamond Syndrome. Ask an Expert: Dr. Lisa McReynolds on Clones, Germline and Somatic Mutations, and why they matter for Shwachan-Diamond Syndrome (SDS) This video on Clones and Somatic Mutations in SDS explains the concept of clonal hematopoiesis and why it is so important in Shwachman-Diamond Syndrome. Ask an Expert: Dr. Jean Donadieu on the New French National Protocol for Shwachan-Diamond Syndrome (SDS) This video on the new French national protocol for SDS explains what it is, how it came to be, and its benefits to the care of Shwachman-Diamond Syndrome patients. SDS Spotlight and Research Blogs The blogs to keep you in the loop about the latest developments New Resources for School Success with Shwachman-Diamond Syndrome — and How You Can Help Build More SDS Alliance launches a free personalized school letter tool and comprehensive school guide for students with Shwachman-Diamond Syndrome — built by and for the SDS community. How YOU can help move gene therapy forward for SDS Gene therapy for SDS is advancing. Learn what's being developed, why base and prime editing matter, and how your perspective can shape what comes next. One Year Later: The SDS PFDD Voice of the Patient Report Is Published — and Your Voice Is Already at Work The Shwachman-Diamond Syndrome Voice of the Patient report is now published and submitted to the FDA. Learn what the EL-PFDD meeting captured, how the report is used, and what comes next. 1 2 3 4 5 From around the web: Science & Medicine for Kids and Adults Insightful resources about the basics, relevant to SDS and research Also check out our Kids' Corner for additional resources for children! Genes and Inheritance Genetic Testing (Applications and Techniques) Cell and Gene Therapy and CRISPR The American Society of Gene & Cell Therapy has some fantastic resources to help patients understand what cell and gene therapy is. Check out their recourses (videos, graphics, etc) on the Gene Therapy 101 page. The Immune System Cell Biology and Ribosomes Blood, MDS, and Blood Cancer / Leukemia Bone Marrow / Haematopoetic Stem Cell Transplant Neutropenia (Impact) Neutrophils (Science) Pancreas and Digestion Therapy Development process

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

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 .

A large fraction of the Shwachman-Diamond Syndrome (SDS) community will need a bone marrow transplant (aka stem cell transplant) in their lifetime. You can make a life saving gift if you match a patient by registering on a bone marrow registry near you, such as Be The Match, or DKMS. Save a Life through stem cell donation SDS patients are at high risk of needing a life saving bone marrow / stem cell transplant during childhood, young adulthood, and beyond. Currently, it is the only curative treatment for several life threatening bone marrow complications of SDS, including acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), aplastic anemia, and bone marrow failure. About 1 in 3 SDS patients will need a bone marrow transplant by age 30, for a chance to survive. Therefore, we passionately support bone marrow and stem cell donation programs, as our patient community critically depends on healthy individuals to save our loved-ones lives. 70% of patients don't have a fully matched donor in in their family, and will rely on generous donors like you. See this beautiful and moving story from a family in NY, aired on 2/17/2023 on ABC7NY . To sign up to be on the national (US) bone marrow registry through Be The Match, please sign up through the link below. You need to be in good health and between the ages of 18 and 44 in order to qualify for free. More details are available on the sign-up page. https://join.bethematch.org/SwabForSDS Alternatively, you can register with DKMS at https://www.dkms.org/, free up to age 55. Find a stem cell registry outside of the US / globally Be The Match has cooperative relationships with many other registries around the globe, allowing them to search their registries, and for them to search Be The Match when seeking a match. To view these cooperative registries and international donor centers, visit http://bethematch.org/About-Us/Global-transplant-network/ . A listing of all registries is available on the World Marrow Donor Association (WMDA) website at https://share.wmda.info/display/WMDAREG/Database . JOINING the Be The Match Registry Joining the registry involves multiple steps. It is a defining moment in a person’s life—a declaration of their values and commitment to help others. Joining the Be The Match Registry means volunteering to be listed as a potential blood stem cell donor, ready to help any patient in need of a life-saving donation. It’s easy to join the registry. All it takes is a simple cheek swab. You need to be healthy and willing to help any patient. Because of the genetic complexity of matching donors to patients, it could be several months, or many years before you’re matched to a patient and asked to donate. Being on the registry is like being on the world’s best waiting list. You could be someone’s only genetic match—their only hope for a cure. FIVE STEPS TO SAVE A LIFE Donating isn’t just something you do—joining the registry is a promise to stay committed and donate when needed. Register online – Answer simple questions about your medical history to make sure you meet health guidelines . Receive a cheek swab kit by mail in about 3-7 business days. Swab your cheek and return the kit – Your sample will be tested and your genetic type will be added to the Be The Match Registry. Stay committed while you wait to be matched – Because of the genetic complexity of matching donors to patients, it could be several months or many years before you’re matched to a patient. Say “Yes” when asked to donate – Patients and their families are counting on you to keep your promise to donate if needed. You could be someone’s only hope for a cure. PATIENTS IN NEED Patients in need of a life-saving blood stem cell transplant count on Be The Match to find them a genetically matched donor. Every three minutes, someone in the United States is diagnosed with a blood cancer. Right now, thousands of patients with blood cancers and other deadly diseases are desperately searching for their genetic match; someone willing to donate life-saving blood stem cells to be their cure. Seventy percent of patients do not have a fully matched donor in their family. They depend on Be The Match to find an unrelated blood stem cell donor. THE NEED FOR YOUNG ADULT DONORS Young adult donors are especially needed to help patients in need of a life-saving blood stem cell donation. Young adult donors have the healthiest, most robust blood stem cells, which produce the best results for patients. When given a choice of genetically matched donors, transplant doctors choose younger donors 85% of the time. We need healthy young donors to replace older registry members as they age off at 61. The vast majority of donors say it was worth it to save a life, and they would do it again. HOW BLOOD STEM CELL TRANSPLANT WORKS Donors want to understand how a transplant works so they can easily explain how their donation could save someone’s life. Your healthy blood stem cells can be a cure for someone with blood cancer or other deadly disease. A blood stem cell transplant works by replacing the patient’s diseased blood stem cells with healthy cells from a genetically matched donor. The transplant replaces the patient’s entire blood and immune system. Donors and patients need to be a close genetic match. Matching is based on genetic markers called human leukocyte antigen (HLA). Because genetic markers used in matching are inherited, donors are most likely to match someone who shares the same ethnic background. Genetic type used to match donors and patients is much more complex than matching blood type. In fact, they don’t need to be the same. The patient’s blood type will change to the donor’s blood type after transplant. HOW DONATION WORKS Donors want to understand how the donation process works so they can be confident in their decision to donate. There are two donation methods: peripheral blood stem cell (PBSC) donation, and marrow donation. The patient’s doctor decides the donation method that is best for the patient. PBSC Donation Most donors (75%) are asked to provide blood stem cells collected from the circulating blood. This is called a peripheral blood stem cell donation, or “PBSC donation.” PBSC is a nonsurgical procedure, called apheresis. It’s similar to donating platelets. For five days leading up to donation, the donor is given shots of a drug called filgrastim that increases the number of blood-forming stem cells in the bloodstream. On the fifth day, blood is drawn from one of the donor’s arms and circulated through a machine that filters out the stem cells and returns the remaining blood to the donor. Most donors visit with friends or binge watch TV during the procedure. Side effects and recovery Leading up to a PBSC donation, donors may experience headaches or body aches several days before collection due to side effects of the filgrastim. These side effects go away shortly after the donation. PBSC donors are typically back to their normal routine in 1 to 2 days. Most PBSC donors report a full recovery within 7 to 10 days of donation. Be The Match follows up with donors until they report a full recovery. MARROW Donation Some donors (25%) are asked to provide blood stem cells collected from bone marrow. Marrow donation is a surgical procedure that takes place in a hospital operating room. The donor receives anesthesia and feels no pain during the procedure. Doctors withdraw blood stem cells from small punctures in the back of the donor’s pelvic bone. Side effects and recovery Discomfort during recovery varies from person to person. Side effects may include back pain, fatigue, headache or bruising for a few days or weeks. Donors are typically back to their normal routine in 2 to 7 days. The median time to full recovery for marrow donors is 20 days. ETHNIC BACKGROUND Be The Match is committed to addressing this disparity by recruiting donors who increase diversity of genetic types underrepresented on the registry. Patients are most likely to match donors who share the same ethnic background because genetic traits used to determine a match are inherited. Because some tissue types are uncommon or rare, there are still many patients who can’t find a match. You might be the only person who could be someone’s cure. Some ethnic groups and multiracial individuals have more complex tissue types than others, which makes it harder to find a match. Children with parents from different ethnic backgrounds are inheriting new and unique genetic combinations. LIKELIHOOD OF FINDING A MATCH Be The Match recognizes ethnic background contributes to a patient’s likelihood of finding a match on the Be The Match Registry. We are committed to sharing this information to motivate more people to join. Given the current makeup of the Be The Match Registry, the likelihood of finding a match for patients in need of a transplant ranges from 23-77% depending on patient ethnic background. Improving the ethnic diversity of the registry improves all patients’ odds of finding a life-saving match, regardless of their ethnic background. More people are needed to join the registry so patients have a greater chance of finding a match.

Resources to raise awareness about Shwachman-Diamond Syndrome on the International Rare Disease Day. RARE DISEASE DAY 29 FEBRUARY 2024 29 February 2024 will be the 17th international Rare Disease Day coordinated by EURORDIS . On and around this day hundreds of patient organizations from countries and regions all over the world will hold awareness-raising activities. Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policymakers, public authorities, industry representatives, researchers, health professionals, and anyone who has a genuine interest in rare diseases. Watch and share our 2020 Rare Disease Day video, highlighting SDS! Rare Disease & SDS Infographic to share on social media! Available in English and Spanish, with French coming soon. Let us know if you would like to help with additional languages! To download, right-click on the image and click save. Rare Disease Day events to attend virtually (or watch later) US The White House: Rare Disease Forum Broad Institute of MIT and Harvard: Rare Disease Day 2024: Climbing Ladders to Cures in Rare Disease Research National Institutes of Health (NIH): Rare Disease Day Event US Food and Drug Administration (FDA): FDA's Rare Disease Day 2024—Dedicated to Patients and Providers More ideas to participate https://www.sdsalliance.org/post/sds-science-snapshots-2024-02-24 Official Rare Disease Day info packs Click on the icons to download the rare disease day info packs. 2020 2022

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 .

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

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

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