Search our Site. Find Results Fast.

Find an SDS community around the globe to access local resources in your local language. Connect to stay in touch and keep informed about the latest information on Shwachman-Diamond Syndrome. SDS Alliance Communities Around the Globe 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 working together. Sharing information and learning are critical components in our pursuit of therapies and cures for Shwachman-Diamond Syndrome. That is why we are committed to serving SDS communities around the globe, with information and resources to meet their local needs - in their local languages. Visit our Global SDS Community pages linked below. Don't see your country or region represented? You can help! We are here to help YOU build community and develop resources tailored to your country/region! Email us today to get started at connect@sdsalliance.org .

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

This page is dedicated to patients who passed away from SDS and its complications. A space for SDS families to keep their loved one's memory alive. And for the SDS community to acknowledge that SDS is a serious, life-threatening disease for which therapies and cures can't come soon enough. In Loving Memory... This page is dedicated to beloved community members we lost to SDS and its complications. While we always try to celebrate any victories in our quest for therapies and cures, the reality of today is still that SDS is life threatening and is claiming the lives of too many. Every single person lost is one too many, and we won't stop until a bright future is available to all people affected by SDS. Here, you can read the stories of patients lost and witness the love of their loved-ones left behind. This is a place to keep their memory alive. Gabriel (age 17) Jennifer (age 37) Rycroft (age 16 months) Moe (age 41) Elijah (age 25) Niamh (age 44) Jason (age 10) Tavi (age 4 months) Melissa (age 15) Andrew (age 3 months)

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 (SDS) news from around the globe! SDS & Science News SDS & Science Snapshots Our weekly blog to keep you up-to-date on cutting-edge publications and advocacy advances, relevant to SDS Project PACER: Building Shwachman-Diamond Syndrome Education Together Take our 5-minute survey to shape Project PACER - a comprehensive Shwachman-Diamond Syndrome education manual and course. Co-created by patients, caregivers, and medical experts. PCORI-funded initiative. Understanding Your Genetic Testing Report: Key Elements for the Shwachman-Diamond Syndrome (SDS) Community and Why it Matters Learn why a genetic diagnosis is essential for confirming Shwachman-Diamond Syndrome (SDS). Understand your test report, SBDS gene results, and how to join SDS-GPS. SDS Patient LENS Study Now Open Apply today. SDS Alliance open a new qualitative research study -- the SDS Patient LENS Study -- to understand the unique lived experiences, 1 2 3 4 5 SDS Science News Updates on specific projects relevant to science, research, and therapy development Project PACER: Building Shwachman-Diamond Syndrome Education Together Take our 5-minute survey to shape Project PACER - a comprehensive Shwachman-Diamond Syndrome education manual and course. Co-created by patients, caregivers, and medical experts. PCORI-funded initiative. 2 days ago SDS Patient LENS Study Now Open Apply today. SDS Alliance open a new qualitative research study -- the SDS Patient LENS Study -- to understand the unique lived experiences, Feb 1, 2025 Amazing Opportunity to Share SDS Patient Perspectives with FDA: EL-PFDD Meeting Planned June 4th, 2025 Be a Speaker/Panelist! The FDA has accepted our request to hold an Externally-Led Patient Focused Drug Development Meeting for SDS on 6/4/25 Jan 7, 2025 SDS-POPS 2024 Recordings and Resources Now Available! SDS Alliance Blog 2024-12-08 In this issue: SDS-POPS 2024 covers a wider range of topics, including SDS patient voice, stories, film, and advocacy, and SDS research and Dec 8, 2024 Shwachman-Diamond Syndrome Receives ICD-10 Code, Paving the Way for Improved Care and Therapies Shwachman-Diamond Syndrome receives new ICD-10 Diagnostic Code, Paving the Way For Improved Patient Care and New Treatment Options. Code... Aug 8, 2023 SDS & Science Snapshots (2023-03-25) In this issue: New proof-of-concept article on RNA Therapeutics and Base/Prime Editing for SDS; And, a review of diagnostic testing for... Mar 26, 2023 SDS & Science Snapshots (2023-01-14) In this issue: Comprehensive review article on bone marrow surveillance of SDS patients by Drs. Shimamura and Reilly; and a recap of ASH... Jan 15, 2023 SDS Cell Biobank Pilot Project a success! After the successful launch of the mouse model project last year and advancing it to phase two this year, we have expanded our efforts to... Dec 11, 2022 SDS Alliance Meets with the FDA Dr. Eszter Hars (SDS Alliance president and CEO) joined the FDA CBER OTAT Patient-Focused Drug Development Listening Meeting. Dec 3, 2022 SDS Alliance is Awarded JumpStart Grant for iPSC Development We are so honored and excited to announce that we won the JumpStart Research Tools Matching Grant through The Orphan Disease Center (ODC)... Sep 8, 2022 Mouse Model Project Update: Phase I complete! We are happy to report that Jackson Laboratory has completed the first phase of the project. They have created mice in which a large segment Aug 29, 2022 Bringing Shwachman-Diamond Syndrome to the Forefront From the Founder, Dr. Eszter Hars, Ph.D. This week, I had the great honor to be invited to speak on a patient-centered panel at the NICER... Sep 25, 2021 Mouse Model Project: Meet the Scientists! From the Founder, Dr. Eszter Hars Dear SDS community, I am so excited to have been able to launch this project. To recap: This project is... Jul 7, 2021 Advocating for SDS Research at Rare Drug Development Symposium This week, I had the great honor to present at the 2021 Rare Drug Development Symposium, hosted by Global Genes and the UPenn ODC. Jun 13, 2021 A Cure for SDS: Our Mission From the Founder, Dr. Eszter Hars “Mom, why do I have SDS? Why can’t I be like everyone else?” my daughter asks me… Imagine a world... Jan 15, 2021 Bone marrow-on-a-chip provides new research directions for Shwachman-Diamond syndrome Boston Children's Hospital's Discoveries Blog features this exciting story about SDS research. Read the full story, here. In a research... Jan 27, 2020 The North American SDS Registry celebrates its 10 year anniversary by giving back to the community The SDS Registry celebrated by hosting the SDS Family Day (conference) in Boston, MA, US. A summary of the event was published by the SDS... Dec 20, 2019

Join our mailing list as the first step to join our Global Network and community. You will receive a personalized welcome email with resources, newsletters, and updates every 2-3 months. Join our Mailing List and Global Network We take your privacy very seriously. We never sell or share your information outside our organization, and only use your information to customize our communications to fit your needs. You can unsubscribe anytime by clicking on the link at the bottom of the emails, or by contacting us via email at connect@sdsalliance.org . Newsletter Archive (Past Editions)

Access no-cost genetic testing and other diagnostic tools, here. Get Tested for SDS Timely and accurate diagnosis of SDS is critical for patients to access optimal care, education, and community support. We have assembled resources for possible patients and their healthcare providers to access no-cost testing options, wherever you are. This page is dedicated to our Probably Genetic sponsored genetic testing program, available to people in the United States, in all states except New York. If this program doesn't work for you, please check out or other resources or email us at connect@SDSAlliance.org . We are excited to announce our new collaboration with Probably Genetic as a patient-finding partner for our community. If you or anyone you know is looking for a trusted genetic testing resource, Probably Genetic runs a no-cost, low-barrier testing program for individuals experiencing primary immunodeficiency disorders. Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access affordable genetic testing. The company has recently launched a no-cost genetic testing program for individuals with primary immunodeficiencies. Eligibility is determined by a brief, user-friendly quiz about the patient’s symptoms, and testing only requires a saliva sample collected at home. Clinical-grade whole exome sequencing reports all pathogenic, likely pathogenic, and variants of uncertain significance associated with the patient’s reported symptoms. Apply to determine if you are eligible using their symptom checker below, or use this link. To participate, candidates must reside in the United States. Eligibility for the program is determined by a brief, easy-to-understand online quiz. Care partners, friends, or family members are encouraged to submit on behalf of their loved one if their loved one cannot complete the Symptom Checker without assistance. How it works Go to the Symptom Checker website on any internet-connected device. Answer the questions in their entirety. It should only take 5-10 minutes. The Probably Genetic team will thoroughly evaluate your Symptom Checker response to assess your eligibility. This typically occurs within one to two weeks. If you are eligible, you can claim your test, and the lab will send a kit right to your door. Collect a saliva sample and ship it back in the pre-paid box. We can also assist you in scheduling a USPS pick-up. Results are available in 6 to 8 weeks. This test shows all disease-causing mutations related to your reported symptoms, even those that are not immuno-related. If genetic testing is offered, you will have access to post-test genetic counseling with a board-certified genetic counselor. The genetic counseling sessions are virtual and are included at no cost to ensure you can make informed decisions and understand the results. View the status of your Symptom Checker submission and/or test kit through the patient portal. You can download a PDF copy of your genetic report, as well as a file containing your raw genetic data. Take the Symptom Checker below, or use this link. The Probably Genetic team is always open to feedback so the program is as successful as possible for this community!

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

The Global SDS Awareness Week started in 2021 for the global SDS community to join forces and raise awareness about SDS. Motivated families and organizations put on their own events or join together. Our creativity and passion has no limits! Shwachman-Diamond Syndrome - #CureSDS Global SDS Awareness Day and Action Week What's Global SDS Awareness Day & Action Week? Global SDS Awareness Day and Action Week is about coming together and raising awareness as a united global patient community. In 2020, the SDS Alliance reached out to all the international SDS patient organizations to discuss the idea of creating an annual Global SDS Awareness event, proposing a time in spring or fall to avoid the busy winter holiday and summer vacation seasons. Our colleagues at SDS UK proposed late April as the time to coincide with Dr. Shwachman's birthday. All organizations that responded - including SDS UK, SDS Netherlands, and SDS Foundation (US) - supported this concept and timing, and so Global SDS Awareness Week was born. Over the years, the event has not reached its full potential, so we set out to reconsider the date. We polled the international patient community for a new date/frame preference. You voted and we listened! B ased on your feedback, the new date(s) are: Global SDS Awareness Day is November 7th and leading up to it, Global SDS ACTION Week is November 1-7th Take Action to Make an Impact! Here is a list of simple actions you can take, one or two a day during Global SDS Action Week - or anytime throughout the year. How will you take action this year? 1 November Start or join a team for Million Steps Closer to #CureSDS , our annual fundraiser to support research! Learn more about the Million Steps fundraiser Start a Team today Become a sponsor or make an introduction 2 November Join SDS-GPS to drive research by sharing your voice and lived experience with SDS. Click to learn more and join SDS-GPS Available in 5 languages Quick SDS-GPS intro at SDS-POPS 3 November Share your story! Record a video or audio (button below!) to share your voice. Use our nifty Vocal Video tool. Or is writing your passion? Submit a story to our patient and family story page ! Click to record a Vocal Video or audio Click to submit your SDS story Click to read SDS patient and family sotries 4 November Know what's in your genes. Gene therapies and other precision medicine treatments can only benefit you if your genetics are known. Check out our learning resources, upload your genetics report to SDS-GPS, or pursue a genetic diagnosis for free . Learn all about Genetic Testing Reports How to access Free SDS Genetic Testing options Join SDS-GPS and upload your genetic testing report 5 November Open Hearts and Minds. US patients: Ask all your healthcare providers to add the SDS ICD-10 code to your medical records. Plus, w atch our documentary film "Until There's a Cure". Learn all about the new ICD-10 code for SDS Order a T-shirt Watch and share the SDS Documentary Film "Until There's a Cure" 6 November Join our global network of families and stakeholders: Join our mailing list. Join our Facebook Groups. And join our monthly Coffee Chats to receive and offer peer support. Join our mailing list Join our Peer Support groups Join our Coffee Chats 7 November Consider sustaining our mission to give SDS patients and families more birthdays to celebrate by joining Monthly Giving Allies by making a monthly donation in any amount. The funds will not only help with advancing our programs, but also to show strength in numbers. Other gifts are also very appreciated Join Monthly Giving Allies Explore other Giving Tools Learn more about Monthly Giving Allies Here are some additional ideas from last year. Click on the list to download a PDF with clickable links. New! Share a vocal video! We partnered with Vocal Video to bring you a super easy way to share your voice by answering a few simple questions. Here is Eszter's example. Click here or below to share your voice, today! Click to create YOUR Video We will use your videos to raise awareness about SDS and to inform our programs to best support your needs! Why November? Dr. Shwachman was a prominent gastroenterologist in Boston in the 1960s and developed deep expertise in caring for Cystic Fibrosis (CF) patients and "atypical" CF patients. This was before SDS was recognized as a distinct disorder, and many patients were categorized as "atypical CF." Drs. Shwachman and Diamond , as well as Dr. Bodian , were instrumental in defining Shwachman-Diamond Syndrome. A landmark publication in the journal Pediatrics in 1964, entitled "The Syndrome of Pancreatic Insufficiency and Bone Marrow Dysfunction " was published by Drs. Shwachman and Diamond in November 1964. It is due to this publication that the disease received its name, "Shwachman-Diamond Syndrome". About 40 years later, Dr. Johanna Rommens and her team at SickKids in Toronto, Canada, identified the main gene responsible for SDS. The gene (and corresponding protein) was named SBDS for S hwachman-B odian-D iamond S yndrome to acknowledge Dr. Bodian's contribution to the field. Coincidentally, the SBDS gene happens to be located on section 11 or Chromosome 7, giving a nod to the date of 11.7 or November 7. Why participate? It is our hope that more and more organizations and families will participate over time so that this campaign can grow and reach more families, medical providers, and researchers. We have reached out to all international SDS patient groups to invite them. Raising awareness can save lives. Any diagnosis made sooner lessens the burden and suffering of the diagnostic odyssey, and life-saving interventions can begin sooner. The SDS community can grow to support more targeted research, accelerating the pace toward therapies and cures. Additional ideas to take action Both patient advocacy groups AND individual patients and families are invited to host events in their communities, be it a bake sale, gala, golf tournament, walk, or any event that works for you and your community. Let us know if we can help in any way! We would love to post your events below and help spread the word. If you have questions about any particular event or campaign, please reach out to the hosting organization or family directly. Donations to any of the participating SDS organizations are always welcome and appreciated. Visit their respective websites for details. If you are an SDS patient or family looking for peer-to-peer support or local support organizations, please check out the list on the SDS Alliance website, here . General information about SDS for patients and families can be found here . New T-shirt Designs Now Live! Click on the design to order. Multiple colors and styles are available, including t-shirts, hoodies, and tank tops. International shipping is available. If you would like to have them printed locally in your country or community, email us at connect@sdsalliance.org and we will be happy to share the design file! SDS Story Series Huge thanks to all the SDS families from around the world for sharing their stories! The stories are available on the SDS Alliance social media channels: SDS Alliance Website blog (Patient Stories) SDS Alliance Facebook page SDS Alliance Twitter (@CureSDS) To raise awareness about SDS as part of the Global SDS Awareness Week in 2021, the SDS Alliance is launching a series of SDS Stories on all it's website, Facebook, and Twitter. We are looking for stories from around the world, the good, the bad, and the ugly :). We want to raise awareness that SDS manifests itself and impacts families in a wide variety of ways, so that more patients can be diagnosed sooner and benefit from community support and better treatments. We also want to show the world that the SDS community is strong and worthy of investment into new therapies and cures. Join us by sharing YOUR story. Visit our Patient Stories page, contact the SDS Alliance on Facebook or email us at connect@SDSAlliance.org .

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.

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 cmmunities 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

Fundraisers Thank you all for coming to our fist fundraiser and for your support. The paint party on rare disease day 2020 was so much fun! Let's do it again next year! Registration Closed Share