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Project PACER is a program supported by PCORI to Build Capacity for Patient-Centered Comparative Effectiveness Research (CER) in Shwachman-Diamond Syndrome. Project PACER Building Capacity for Patient-Centered Comparative Clinical Effectiveness Research (CER) in Shwachman-Diamond Syndrome. Read the pressrelease here Project PACER is funded through a Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington PCORI Engagement Award (EASO-42419). Watch the Project PACER Kickoff Meeting to learn more Patient Posters As a conversation starter and to give patients and families an opportunity to share their experiences in a new, impactful way, we created a series of large posters (pop-up banners) that were displayed at the Project PACER kick-off meeting, the EL-PFDD meeting, and the International Scientific Congress in Cincinnati, OH, on June 4th, 2025. The banners are portable, and we are planning to display them at additional meetings as opportunities arise. Digital copies are available to view right here. To create these posters, patients and families were asked to fill out a simple form with all the information needed and upload photos they wanted to share. As part of Project PACER, we invited feedback about the posters, from both the patient community and other stakeholders. The feedback was overwhelmingly positive. Project Overview SDS Alliance awarded PCORI Engagement Award funding to build capacity for patient-centered CER for Shwachman-Diamond Syndrome We are pleased to announce that the Shwachman-Diamond Syndrome Alliance (SDS Alliance) has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support building capacity for patient-centered Comparative Clinical Effectiveness Research (CER) on Shwachman-Diamond Syndrome (SDS), or Project PACER for short. Eszter Hars, Ph.D. will lead the two-year engagement project (EASO-42419) through the SDS Alliance. Read the pressrelease here The biggest and most impactful patient voice meeting - the SDS PFDD meeting - is a key component of Project PACER. Learn all about the SDS PFDD Meeting Project PACER: For Patients & Families Help build a comprehensive SDS education resource with YOUR voice at the center Watch Eszter's 2-minute SDS Spotlight video, introducing Project PACER , then read on to see how you can be part of it. You are the heart of Project PACER. Now it's time to help build it. We're creating the first comprehensive SDS education resource — with your priorities, your stories, and your voice at the center. Take the 5-7 Minute Survey How to Get Involved Why This Matters Informed families are powerful partners in research — and that changes outcomes for everyone with SDS. When you deeply understand SDS — the science, the research landscape, how clinical studies work — you can: Advocate more effectively with your healthcare team Help researchers design better SDS studies Make confident, informed decisions about clinical trial participation Serve on patient advisory boards Mentor and support other SDS families, including the newly diagnosed Project PACER builds that capacity across the entire SDS community — together. Our goal is clinical trials by 2030, and an informed, research-ready community is what makes that possible. What We're Creating Two core resources, built with community input from the start. Living with SDS: A Practical Guide A comprehensive manual covering every organ system — expert clinical overviews in plain language, patient and family stories, and current research updates in each chapter. Available as a full PDF, individual chapters, one-pagers, infographics, and in print. Open-access with DOI (target: 2027). An Online Course Training Built from the manual — designed to help you understand SDS deeply and participate meaningfully in research and advocacy. Delivery format shaped by your preferences. Completing the course is compensated, thanks to PCORI funding. Topics We're Covering The survey asks you to choose your top 3–5 priorities. Your input directly shapes how much depth we give each topic. ● Neutropenia & immune system ● Bone marrow failure ● Cancer risk & monitoring ● HSCT — when, how & why ● Pancreatic insufficiency ● Nutrition & growth ● Liver health ● Metabolic & diabetes risk ● Bone health & puberty ● Skeletal abnormalities ● Dental & oral health ● Cognitive development ● Attention & ADHD ● Emotional health & trauma ● Quality of life ● Fertility & family planning ● Genetic counseling ● Caregiver wellbeing ● Pediatric-to-adult transition ● Navigating healthcare ● Clinical trials ● The future of SDS treatment ● Patient-centered research ● SDS communities worldwide ● And more by request! Project PACER: For Clinicians & Researchers What You'll Be Able to Do After completing the Project PACER course, you'll be equipped to make a real difference — wherever you are. At the doctor: Speak up more clearly and confidently for yourself or your child With researchers: Help scientists design better SDS studies with your informed perspective In the community: Help and teach other SDS families — especially the newly diagnosed In clinical trials: Make decisions about participation with real confidence On advisory boards: Provide an informed patient perspective on research planning With SDS Alliance: Participate in projects and help shape what we build next How to Get Involved Choose the level of involvement that fits your life. Every role matters. * Several roles are compensated, thanks to PCORI funding. Patient Co-delevopers* Help design course content that actually prepares families for meaningful research engagement. Shape the curriculum, review materials, and guide priorities from the inside. Story Contributors Share your experience to illustrate a manual chapter. You'll tell us which topics your story speaks to, and we'll match you to the right chapter. Newly diagnosed families will benefit directly from your voice. Pilot Testers* Try the course before it launches and give feedback. Help us refine the experience so it truly works for real families. Cours Participants* Take the course when it launches. Earn a certificate that qualifies you to serve on advisory panels, advocate more effectively, and mentor others in the SDS community. The survey asks which roles interest you — you're not committing to anything yet. We'll follow up with details as we finalize next steps. Take the Survey — Your Voice Shapes What We Build The survey covers which topics matter most, what course format fits your life, what a completion certificate means to you, and how you'd use your knowledge. 5–7 minutes. Every response directly shapes what we create. Survey open through March 2026. All responses are confidential Take the 5-7 Minute Survey What the Survey Asks No surprises — here's exactly what you'll be answering. Your connection to SDS and how long you've been on this journey How you'd describe your current understanding of SDS Which topics are most important to you (pick your top 3–5 from a full list) Which participation roles interest you (co-developer, story contributor, pilot tester, or course participant) What course delivery format works best — self-paced, live, hybrid, or in-person What a course certificate would mean to you, and how you'd use what you learn How compensation affects your ability to participate in higher-effort activities Whether you'd like to join the SDS Alliance mailing list and global network What Happens Next Now – March 15, 2026: Community survey open. Take it to shape what we build. Spring–Fall 2026: Chapter writing, patient story matching, and course co-development with community contributors. Q4 2026 / Q1 2027: Manual published open-access with DOI, and online course launches — with compensation for participants. Questions? Reach out to Eszter at connect@sdsalliance.org . Help build a comprehensive SDS education resource with clinical expertise from around the world Project PACER: For Clinicians & Researchers Help build the definitive SDS education resource Currently, there is no comprehensive, patient-centered SDS guide. We're creating one — with clinical experts from around the world. PCORI-funded Open-access publication DOI-citable chapters Free CME/CNE training Take the Professional Interest Survey How to contribute Three ways to get involved We're developing Living with Shwachman-Diamond Syndrome: A Practical Guide — a multi-chapter manual covering every organ system, each with a patient story, an expert clinical overview, and a research landscape update. Published open-access with a DOI in 2027, every chapter is a citable scholarly contribution. Expert Chapter Contributor Write one clinical overview (2,000–2,500 words, plain language) for a topic aligned with your expertise, from hematology and neutropenia to genetics, nutrition, transition to adult care, and 20+ more. What you get: Byline credit on your chapter DOI-citable publication (targeting 2027) Acknowledgment in all derivative materials Commitment: One chapter + one patient review round for clarity Clinical Reviewer Review 1–3 draft chapters for medical accuracy and currency — no writing required. Ensure the content meets clinical standards before it reaches patients and families worldwide. What you get Acknowledgment in the manual Meaningful contribution without writing commitment Early access to final chapters Commitment : Approximately 2–3 hours total Network Partner Share PACER resources with SDS patients in your care and with professional colleagues. Help the right information reach the right families at the right moment, to improve outcomes. What you get Early access to manual chapters Patient education materials for your practice Updates on PACER progress Commitment : As your time allows Why it matters for your work A stronger community benefits everyone Patient-centered funding agencies — including PCORI and NIH — increasingly require demonstrated community engagement. PACER gives researchers a concrete, documented partnership to point to in grant applications. For clinicians, an informed patient community means better research participation, more meaningful clinical conversations, and families who arrive at appointments prepared. Every chapter you contribute directly shapes that outcome. What to expect Timeline Spring 2026 — Expert recruitment & chapter assignments We'll match contributors to chapters based on expertise and interest survey responses. Spring–Fall 2026 — Writing, patient review & revisions Chapters go through an iterative review process with both clinical and patient community input. Late 2026/Early 2027 — Open-access publication & course launch Manual published with DOI; free online training for clinicians and researchers launches simultaneously. Ready to contribute? Complete our 10-minute interest survey for professionals and we'll be in touch as chapter assignments begin in Spring 2026. Questions? Email us at connect@sdsalliance.org Take the Professional Interest Survey

Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a 501(3)c public nonprofit foundation/organization, focused on improving patients' lives by accelerating research, fostering international collaborations, and providing quality educational and awareness materials. Shwachman-Diamond Syndrome is a life-threatening condition. We save lives by accelerating research to #CureSDS. Join our network of patients, families, doctors, and researchers, working together to drive research and accelerate therapy development, so that people with Shwachman-Diamond Syndrome can live their lives to their full potential and get more birthdays to celebrate. Join Us Meet the Team Our Story We bring patients, caregivers, doctors, and researchers together to drive research and accelerate therapy development. As a patient advocacy nonprofit, we build and share research tools and infrastructure, amplify the patient voice to guide therapy development, create collaboration frameworks and opportunities, and strategically invest funding into projects with a potential to become transformative therapies. Our Impact Join our mailing list. Be part of our Global Network. Join Now Be the first to learn about updates on SDS research, care guidelines, therapy development, advocacy, and community news. Developing a therapy for SDS is complex, expensive, and never fast enough . Our programs are designed to get it done . Now. Our Strategy For Patients and Families For Doctors and HCPs For Researchers and Industry Amazing Opportunity to Be Heard: SDS PFDD Meeting We hosted an Externally-Led Patient-Focused Drug Development Program (EL-PFDD) meeting for Shwachman-Diamond Syndrome on June 4th, 2025. Cinicnnatti, OH and Virtual via Zoom. Provide your thoughts today! Watch the recording and learn more See our impact . New collaborations, further reach, faster progress. Featured News All our Blogs 2025 Impact Report: How the SDS Community Is Advancing Research Toward Therapies Read the 2025 SDS Alliance Impact Report to see how patient voice, research strategy, and collaboration are advancing therapies for Shwachman-Diamond Syndrome. SDS Alliance awarded PCORI Engagement Award funding to build capacity for patient-centered CER for Shwachman-Diamond Syndrome. We are pleased to announce that the Shwachman-Diamond Syndrome Alliance (SDS Alliance) has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support building capacity for patient-centered Comparative Clinical Effectiveness Research (CER) on Shwachman-Diamond Syndrome (SDS), or Project PACER for short. FDA provides positive feedback on the SDS EL-PFDD meeting, valuing the Patient Voice Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome (SDS PFDD meeting) successfully delivers patient voice to the FDA, drug developers, and other stakeholder. 1 2 3 4 5 Let’s give SDS patients and their families more birthdays to celebrate. Join us. Join our global network of patients, families, doctors, and researchers, working together to drive research and accelerate therapy development, so that people with Shwachman-Diamond Syndrome can live their lives to their full potential. Join Us Donate

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

Join the global campaign to amplify 100 VOICES to #CureSDS and be part of a group of patients and caregivers that helps accelerate research and therapy development by sharing their SDS story and their lived experience with Shwachman-Diamond Syndrome. The Voice of the Patient matters. 100 VOICES to #CureSDS Share your story to make a difference! Share your story. Make an impact. Make it count. Be part of this global movement to show strength in numbers . Show researchers and regulators that we are ready for therapies and cures for SDS. How YOU can make a difference: ... and earn a FREE T-shirt (like above) along the way... Be part of the first 100 participants in SDS-GPS Power the impact of the Patient Voice in research. Make your voice count. NEW: Join by March 15th and earn a FREE T-shirt! Explore SDS-GPS & Be part of the biggest and most impactful patient voice meeting ever: SDS PFDD In-person OR virtual . Your voice matters. Join the meeting and be part of the Voice of the Patient Report for a long-lasting impact. NEW: Register by March 15th and earn a FREE T-shirt! Register Now Learn More

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

Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a 501(3)c public nonprofit foundation/organization, focused on improving patients' lives by accelerating research, fostering international collaborations, and providing quality educational and awareness materials. Shwachman-Diamond Syndrome is a life-threatening condition. We save lives by developing new therapies. Join our network of patients, families, doctors, and researchers, working together to drive research and accelerate therapy development, so that people with Shwachman-Diamond Syndrome can live their lives to their full potential. Join Us About Us We bring patients, caregivers, doctors, and researchers together to drive research and accelerate therapy development. As a patient advocacy nonprofit, we build and share research tools and infrastructure, amplify the patient voice to guide therapy development, create collaboration frameworks and opportunities, and strategically invest funding into projects with a potential to become transformative therapies. About Us Our Impact Join our mailing list. Enter our Global Network. Register Now Be the first to learn about updates on SDS research, care guidelines, therapy development, advocacy, and community news. Developing a therapy for SDS is complex, expensive, and never fast enough . Our programs are designed to get it done . Now. Our Strategy For Patients and Families For Doctors and HCPs For Researchers and Industry Join us live this fall at SDS POPS , our global virtual patient advocacy and partnering summit. Register Now All Events See our impact. New collaborations, further reach, faster progress. Featured News All our Blogs 2025 Impact Report: How the SDS Community Is Advancing Research Toward Therapies Read the 2025 SDS Alliance Impact Report to see how patient voice, research strategy, and collaboration are advancing therapies for Shwachman-Diamond Syndrome. SDS Alliance awarded PCORI Engagement Award funding to build capacity for patient-centered CER for Shwachman-Diamond Syndrome. We are pleased to announce that the Shwachman-Diamond Syndrome Alliance (SDS Alliance) has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support building capacity for patient-centered Comparative Clinical Effectiveness Research (CER) on Shwachman-Diamond Syndrome (SDS), or Project PACER for short. FDA provides positive feedback on the SDS EL-PFDD meeting, valuing the Patient Voice Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome (SDS PFDD meeting) successfully delivers patient voice to the FDA, drug developers, and other stakeholder. 1 2 3 4 5 Let’s give SDS patients and their families more birthdays to celebrate. Join us. Join our global network of patients, families, doctors, and researchers, working together to drive research and accelerate therapy development, so that people with Shwachman-Diamond Syndrome can live their lives to their full potential. Join Us Donate

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 Global Patient Advocacy and Partnering Summit Request 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. Register now for SDS POPS 2025 on October 12, 2025, to receive the recording. 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 .

We need your help to raise funds to achieve meaningful impart to enable and accelerate SDS research. Set up your own fundraiser. We will help. Fundraise to #CureSDS For rare and ultra-rare diseases, not only are patients scarce but so is funding. Research and research infrastructure critically depend on funding from the patient community to jumpstart new projects and fill in gaps left by governmental and other funding sources. Funding also helps us make our voices heard in terms of what kinds of research and therapies we want to prioritize, and to be able to capture and make our voices heard effectively. Would you like to play an active role in accelerating research for effective treatments and a cure? Every dollar makes a difference in the fight to find ways to eliminate the leukemia risk and a cure Shwachman-Diamond Syndrome. No matter how you do it, your fundraising is an essential part of this mission. There is no right or wrong way to fundraise. People have done some pretty amazing and creative things to raise money. Big or small, in person or online. Follow these three basic steps: I'm a paragraph. Click here to add your own text and edit me. It's easy. Create and customize your fundraising page To create your personalized fundraising page as part of our main fundraising campaign of the year, click on the "I want to fundraise for this " button on the main fundraising campaign page . Give your campaign some style and a personal touch. Write a brief explanation and upload a photo of yourself or your family. Choose an end date, set a goal — then publish your page. Spread the word You have your goal — so let’s help you get there. Post on social media or send friends and family a quick email to let them know about your fundraiser. If you’re passionate about #CureSDS by investing in research, chances are they will be too and feel inspired to contribute. You are doing something amazing, and your friends and family will want to help you succeed. Make sure to ask them for support. Thank your donors! The best way to show your appreciation is to tell your donors how their gift has made an impact. Find stories about our work on our blog, social media, or newsletter, and share them with family and friends who contributed. Step 1 Step 2 Step 3 We can help you create customized flyers, letters, cards, or whatever you need for your fundraising efforts! We can even add a custom QR code that takes users to your own fundraising page, and add a Text-to-Donate code as well. Holidays: Add a Holiday Appeal to your card this year! We will help you create a personalized appeal letter that will speak to your family and friends. You can add it to your annual holiday mailing, or we can print and mail it on your behalf. Contact us at connect@sdsalliance.org , and we will work with you to make it a easy as possible. Holiday Appeal When it is safe again, host an In-Person Event Lemonade stand, golf tournament, fundraising gala at your favorite restaurant, a 5K. The possibilities are endless. Start an Online Fundraiser, today Especially since in-person events are not possible right now, the options for online fundraisers have exploded. The most popular method is a peer-to-peer campaign via a Facebook fundraiser or a crowdfunding campaign through our Fundraising platform (GiveLively). For the holidays, use this campaign page and click "I want to fundraise for this" to set up your own customizable fundraising page, then and spread the word! Join an existing Online Fundraiser Check the "Current Fundraisers" section below and join to lend your support. Often, there will be a simple way to create your own fundraising page as part of that campaign. Contact us if you have any questions. Find a current Facebook fundraiser to join. Pledge your Birthday, Wedding, or any Special Event Make it your most memorable and meaningful birthday yet. Instead of gifts, ask for donations on your birthday. And we make it easy. The options include a Facebook fundraiser (and some tips ) or a crowdfunding campaign through our Fundraising platform (through GiveLively). Current Fundraisers current fundraisers Past Fundraisers

Shwachman-Diamond Syndrome - News and Events from around the globe! Featured Events & News SDS PFDD Meeting Externally-Led Patient-Focused Drug Development Program (EL-PFDD) meeting for Shwachman-Diamond Syndrome. June 4th, 2025. Cinicnnatti, OH and Virtual via Zoom. Visit the SDS PFDD Info Page Catch up on the summary and video recording of SDS POPS 2024, our global virtual patient advocacy and partnering summit. SDS POPS Recording & Resources Featured News Featured News on News and Events SDS Alliance News SDS & Science Snapshots All Our Blogs 2025 Impact Report: How the SDS Community Is Advancing Research Toward Therapies Read the 2025 SDS Alliance Impact Report to see how patient voice, research strategy, and collaboration are advancing therapies for Shwachman-Diamond Syndrome. SDS Alliance awarded PCORI Engagement Award funding to build capacity for patient-centered CER for Shwachman-Diamond Syndrome. We are pleased to announce that the Shwachman-Diamond Syndrome Alliance (SDS Alliance) has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support building capacity for patient-centered Comparative Clinical Effectiveness Research (CER) on Shwachman-Diamond Syndrome (SDS), or Project PACER for short. FDA provides positive feedback on the SDS EL-PFDD meeting, valuing the Patient Voice Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome (SDS PFDD meeting) successfully delivers patient voice to the FDA, drug developers, and other stakeholder. Reflections from Cincinnati 2025 and impact of the patient voice Our reflections. Cincinnati hosted two key events for SDS in June 2025: the SDS PFDD meeting and the International Scientific Congress on Shwachman-Diamond Syndrome SDS 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, Register for Community Webinar and Q&A to prep for SDS PFDD Meeting Join the community webinar and Q&A session to learn all about the EL-PFDD meeting on Shwachman-Diamond Syndrome and get answers about it all Amazing Opportunity to Share SDS Patient Perspectives with FDA: EL-PFDD Meeting Planned June 4th, 2025 Be a Speaker/Panelist! The FDA has accepted our request to hold an Externally-Led Patient Focused Drug Development Meeting for SDS on 6/4/25 SDS-POPS 2024 Recordings and Resources Now Available! SDS Alliance Blog 2024-12-08 In this issue: SDS-POPS 2024 covers a wider range of topics, including SDS patient voice, stories, film, and advocacy, and SDS research and SDS Alliance shares ideas at new FDA Rare Disease Innovation Hub kick-off Meeting. SDS & Science Snapshots (2024-10-26) In this issue: SDS Alliance shares ideas at new FDA Rare Disease Innovation Hub kick-off Meeting. New Publication by the SDS Alliance Highlights SDS as a Therapeutic Target. SDS & Science Snapshots (2024-08-17) New Publication by the SDS Alliance. From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Dev Free Genomic Sequencing for SDS through New Collaboration with Rare Genomes Project. SDS & Science Snapshots (2024-07-13) In this issue: New research genetic testing opportunity for individuals suspected to have SDS! Shwachman-Diamond Syndrome Receives ICD-10 Code, Paving the Way for Improved Care and Therapies Shwachman-Diamond Syndrome receives new ICD-10 Diagnostic Code, Paving the Way For Improved Patient Care and New Treatment Options. Code... SDS Cell Biobank Pilot Project a success! After the successful launch of the mouse model project last year and advancing it to phase two this year, we have expanded our efforts to... SDS Alliance Meets with the FDA Dr. Eszter Hars (SDS Alliance president and CEO) joined the FDA CBER OTAT Patient-Focused Drug Development Listening Meeting. SDS Alliance meets with the White House Cancer Moonshot Team September 30th is Rare Cancer Day. We marked the day by taking action and meeting with the White House Cancer Moonshot initiative in... SDS Alliance 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)... 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 Dr. Eszter Hars chosen by The Milken Institute to join FasterCures LeaderLink Program SDS Alliance’s President and CEO, Eszter Hars Ph.D., has been chosen by The Milken Institute to join the FasterCures LeadersLink Program.... SDS Alliance Awarded Chan Zuckerberg Initiative “Rare As One” Grant Woburn, MA (November 3rd, 2021) — The SDS Alliance is delighted to announce that the organization has been awarded a prestigious grant... Elevating Shwachman-Diamond Syndrome's Standing From the Founder, Dr. Eszter Hars, Ph.D. This week, I had the incredible honor to be invited to speak at the 2021 Global Genes RARE... 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... 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... 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. The SDS Alliance Launches Mouse Model Project with The Jackson Laboratory SDS Alliance has just launched a project with The Jackson Laboratory to develop an SDS mouse model—the key first step toward a cure for SDS. 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...

Community building is critical for rare diseases, and Shwachman-Diamond Syndrome is no exception. Find online and local support, here. Peer Support & Communities No one understands better than us - the patients and their families - what it is like to live with SDS. There is no substitute for the support we can offer each other as patients and families who "have been there" or are "in the thick of it". Compassionate patients and families are available day and night to support those who need it - be it patients and families newly diagnosed, going through a crisis, or ready to take action to improve outcomes. We have created several resources to facilitate peer support. In addition, you can find a list of official national nonprofits focused on SDS patient support, below. New: Monthly Virtual Community Calls: Sundays, 3pm ET (12pm Los Angeles, 3pm New York, 8pm London, 9pm Paris) Register at www.SDSAlliance.org/coffee Are you new to the SDS community? Do you need help understanding SDS or what we are doing about it? Would you like to connect with us about anything SDS-related? Schedule a one-on-one call with me today! (We cannot give medical advice, but are happy to discuss anything else and point you to the right resources). SDS Alliance Community Connection Resources We have a private Facebook group for SDS families and their close supporters, who are interested in honest, mindful, and proactive discussions about SDS, the latest research, and opportunities to get involved and make a difference, called the ACTION TEAM Facebook group . Please join if you would like to get involved. We also have Facebook support groups that are focused on certain regions (e.g. Latin America), languages (e.g French), and demographics (e.g. adult SDS patients ). Please reach out to us if you would like to get connected. Other Community Resources We maintain a list of SDS-focused country-specific registered charities in order to support patients everywhere. See them listed alphabetically by country in the table below. Don't see YOUR country represented? We can help you set up a group and even host a simple info page to help serve YOUR community. Contact us! Germany Italy Netherlands United Kingdom United States

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

The SDS Patient LENS Study is an interview-based qualitative research study to understand and document SDS patients' and caregivers' lived experiences, needs, and stories. The results of this study will guide our focus on the patient voice and research priorities for years to come. SDS Patient LENS Study SDS Alliance is launching an interview-based qualitative research study to learn about and document the L ived E xperiences, N eeds, and S tories 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 program priorities for years to come. If you are interested in participating, please log in to your SDS-GPS account and apply by completing and submitting the SDS Patient LENS Study informed consent form . You can find it on your SDS-GPS dashboard and under open surveys. The SDS Patient LENS team will review all applications and select approximately 10-15 participants to be interviewed to ensure a wide and representative range of experiences with SDS will be captured. If you are selected, a member of the team will contact you to schedule your interview. Please note that submitting an application does not guarantee selection. Create an SDS-GPS account Login to your account Topics include Patient experience navigating the healthcare system Social and economic impact of an SDS diagnosis Research questions important to the SDS community Perspectives on current treatment options With the goal Describing the SDS diagnostic odyssey and patient journey Raising awareness of the SDS patient experience Contributing to future research and advocacy efforts Contributing to patient care and therapy development Video Presentation about the LENS study We presented an overview of the LENS study at the latest SDS POPS . Watch it here. Frequently Asked Questions Who is eligible? Individuals affected with SDS (18 years or older) and/or caregivers to those with SDS. How many people would you like to interview? 10-16 participants (or more – the more the better) How will interviews be performed? Interviews will be conducted using a phone or video call and involve guiding questions and space to share personal experiences. How will my interview data be used and protected? Common themes will be identified across interviews, and this data will be used to guide future research, care, and advocacy initiatives, including preparations for the SDS EL-PFDD meeting. All personal information and identifiers will be removed before analyzing and sharing data. Where can I access the informed consent form and written details? The IRB-approved study overview and consent form are available for pre-viewing by clicking here . To participate in the study, please sign the form on the SDS-GPS platform, when presented to you after completing the PFDD survey. It is the same information as linked above.