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

It's finally here: the first ever virtual global fun run/walk event to support Shwachman-Diamond Syndrome (SDS) research! After six years of counting steps together — and proving that this community can move mountains, one step at a time — we are relaunching our annual fundraiser as Step Up to #CureSDS , coming spring 2027 and launching on Rare Disease Day! This will give you plenty of time to plan ahead, form your team, and get ready to step up together. Watch for details during SDS Action Week, November 1–7. Fundraiser October 2020 Step Up to #CureSDS Annual Global Fundraiser The Event for You, Your Friends, Family, and Colleagues to Have Fun and Support Research. November 1-7, 2025! Note: This event has passed, and we are planning the next one. Let us know if you prefer spring or fall! Stay tuned! Anywhere (Virtual or Local if You Choose) Join the SDS Alliance's annual "Million Steps Closer" fun-run challenge fundraiser, a virtual event every fall. Turn hope into action and take steps to #CureSDS - you can walk, run, crawl, roll, swim, or lean back and support those who do by making a donation. The steps (and fitness) counting challenges are managed through a free app and are optional (see below). Register here! Team T-shirts Start or Join a Team! Support Research! This fundraiser is a fun and uplifting way to join us and make a difference. As always, 100% of funds raised from the community go to SDS research and infrastructure to accelerate therapy development, following our roadmap . By participating in this event, you are playing an integral part in driving progress! Roadmap Start a Team to Amplify Your Impact! Invite your family, friends, neighbors, colleagues, or classmates to participate! Registration is free! See the instructions below to learn how you can set up a fundraising page for your child, yourself, or a loved one, and easily invite others to join in your fundraising efforts! Strat a Team Curious about past events? Check out the results of our 2024 , 2023, and 2022 Million Steps Closer to #CureSDS fundraiser! Watch Rebecca's Video on Fundraising Tips and Tricks This presentation was part of SDS POPS 2025. T-Shirts Get in the Team Spirit with Team T-Shirts! This year, you can choose between multiple designs. Design 1 celebrates the Million Steps fundraiser with a sneaker with wings Design 2 celebrates Global SDS Awareness Day and Action Week with a November 7 design Order by October 1st to receive it in time for the event! Both can be customized with your team name. Email us at connect@sdsalliance.org with your team name and color preference, and we will set up a custom campaign page for you to share with your team. Specify whether you would like to distribute the T-shirt yourself locally, of id team members should be able to order and get their purchase shipped to them. Order Design 1 Order Design 2 Email Us to Customize The Details When? November 1-7 Where? Virtual! Run/Walk/Roll wherever you like! Plus local events hosted by community members. What? Fun!!! Fundraise and Run/Walk/Roll in your community! Why? To build community and raise funds for SDS research! Register now! Join the SDS Alliance's annual fun run challenge fundraiser! This is a virtual event and will take place November 1-7, 2025, to coincide with the Global SDS Action Week and Awareness Day . Everyone is invited to turn hope into action and take steps to #CureSDS - you can walk, run, crawl, roll, swim, or lean back and support those who do by making a donation. The steps and run challenges - step counting, miles, and more - will be managed on the count.it app. Registered participants will receive detailed instructions on how to join and/or create teams via email in October. The main challenge will be step-counting during the week of the event. Let us know if you would like to see additional types of fitness challenges! Invite your family, friends, and neighbors to participate! Registration is free! See the instructions below to learn how you can set up a fundraising page for your child, yourself, or a loved one, and easily invite others to join in your fundraising efforts! As always, 100% of funds raised from the community go to SDS research accelerating therapies, with no overhead! This year, we continue expanding the toolbox for SDS research and start to seed fund drug screens and development as part of our roadmap . Through fundraising and donations, you will play an integral part in driving progress! How to participate: Step 1. Register Register for the 5 Million Steps Closer to #CureSDS fun run by a) setting up a personal fundraising page (team), or b) supporting the fundraiser of your loved one! To set up a personal fundraising page (also known as a team), simply click "Start a Fundraiser" on our fundraising campaign page , follow the instructions, and customize it with your own content! Everyone loves to see photos of your SDS hero! Pro tip: Add a link to your custom T-shirt campaign from step 2! To register by supporting the fundraiser of your loved one, simply make a donation in any amount to their team/fundraising page! You may have already received the direct link to their page from them. If not, you can find the teams on the main fundraising page . Step 2. T-shirts (optional) Order the event T-shirt to get into the team spirit. We have general event T-shirts (see above ), AND we can create custom T-shirts customized with your team name. If you are a team captain, contact us to get your custom T-shirts up and running. Order by 10/01 to receive them in time for the event, and allow extra time for shipping outside the USA. Step 3. Spread the word Share your fundraising page via social media and email and start raising funds for SDS research! Expand your reach by asking family and friends to set up their own fundraisers or promote yours! Increase Awareness! Post photos with your family/friends during the event and let us know who you are running for! Use hashtag #StepsToCureSDS on all social media platforms! Step 4. Walk/run/roll... During the week of November 1-5, hook up your favorite tracker to the count.it app (instructions will be emailed to you) and start taking steps (walk, jog, roll, dance,...) to #CureSDS. Most importantly, have fun! Step 5. Get Rewards Your fundraising efforts are so important and impactful toward accelerating research for therapies and cures, we want to thank you and reward you for your efforts. Raise funds on your fundraising page and will send you the following*: Raise $50: Get a canvas tote bag* Raise $500: Get a tote bag, plus an awesome insulated stainless water bottle* Challenge winners in each category will get bragging rights and both gifts* above! *Items are subject to change, and we will reach out to you first to confirm your shipping address, preferences, and size. ~~~~~~~~~ Questions? Email us at connect@SDSAlliance.org

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

Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. Every August, families navigating Shwachman-Diamond Syndrome (SDS) face a familiar challenge: a new school year brings with it a new set of teachers, counselors, and administrators who have likely never heard of SDS. How do you help them understand — quickly, clearly, and in a way that also shows them who your child really is? This month, SDS Alliance is launching two new free resources to help. Both were built with and for the SDS community, and both are available now. In this episode of SDS Spotlight, I share brand-new resources we developed for you — patients and families living with SDS — to help you get ready for the new school year. A Personalized School Letter — Built from a Community Idea The SDS School Letter Tool was inspired by Angela, a mom in the SDS community who had already solved this problem for her own son years ago. She created a trifold she could hand to his school team — something personal, portable, and practical. That idea stuck. SDS Alliance built it into a tool that any patient or family can use. Here is how it works: you answer a few questions about the patient, select relevant accommodations from a curated list, add one or more photos, and a few details about their personality and hobbies. The tool generates a personalized, ready-to-share document — either a multi-page letter or a double-sided trifold layout — as a downloadable PDF. The letter introduces the whole person, not just the diagnosis. Teachers and school staff get the medical context they need alongside a sense of who this student actually is. The tool is published on Zenodo under an open license — if you work with another rare disease community and would like to adapt it, the files are freely available. Suggested citation: Hars E. (2026). SDS School Letter Tool. SDS Alliance. https://doi.org/10.5281/zenodo.21324915 A Comprehensive School Guide for Patients, Families, and School Teams For families and care teams who want to go deeper, SDS Alliance has also published a comprehensive school guide: Supporting Students with Shwachman-Diamond Syndrome: A Guide for Patients, Families, and School Teams. The guide covers: How SDS affects learning, attendance, and daily school life Navigating IEPs, 504 plans, and other formal accommodations Communicating effectively with teachers, nurses, and administrators Managing SDS-related challenges at school — neutropenia, fatigue, pain, cognitive differences, and more Transitioning from pediatric to adult care, and from school to college or work Supporting adult patients navigating workplace accommodations The guide was developed as part of Project PACER — SDS Alliance's PCORI-funded initiative to build comprehensive, community-informed resources for the SDS community. It was clinically reviewed by Dr. Thea L. Quinton, pediatric neuropsychologist at Cincinnati Children's Hospital, and her colleagues who work directly with school teams. It is written for three audiences: patients, families, and school professionals, so that a teacher can pick it up and understand SDS in the context of their classroom, while a parent can use the same document to prepare for an IEP meeting. The guide is free, open-access, and published on Zenodo with a permanent DOI — meaning it is citable, shareable, and will remain available long-term. Suggested citation: Hars E. (2026). Supporting Students with Shwachman-Diamond Syndrome: A Guide for Patients, Families, and School Teams. SDS Alliance. https://doi.org/10.5281/zenodo.21316992 How These Resources Came to Be Both resources were developed as part of Project PACER — SDS Alliance's initiative to build the infrastructure of knowledge and community engagement that rare disease research depends on. Funded by PCORI (Eugene Washington PCORI Engagement Award EASO-42419), PACER is creating a suite of resources that center the patient voice at every step. The school letter tool and guide reflect our belief that the best resources for the SDS community come from the community itself. Angela's trifold served as the inspiration. Dr. Quinton's clinical expertise gave the guide professional depth. The families who reviewed it and provided feedback made it come to life. This is how our community works — solving problems together and sharing the solutions with everyone who comes after. What Comes Next — and How You Can Help The Essential Guide — Living with Shwachman-Diamond Syndrome: The Essential Guide for and by Patients, Families, Clinicians, and Researchers — is the larger resource Project PACER is building. It will cover every major aspect of SDS across 29 chapters, with clinical expert overviews, research updates, and patient and family stories at the center of each one. School, work, and daily life accommodations is one of those chapters. But there are many more. We are currently collecting patient and family stories across a wide range of topics — from neutropenia and bone marrow monitoring, to dental health, cognitive development, emotional wellbeing, transplant experiences, and more. You do not need to be a writer. You do not need a dramatic story. You just need a relevant lived experience and a willingness to share it, on your own terms. If something resonates, reach out to Eszter directly at pacer@sdsalliance.org. We will figure out together whether your story is the right fit. All August Resources at a Glance School letter tool: www.sdsalliance.org/school-letter School guide: www.sdsalliance.org/school-guide DOI: https://doi.org/10.5281/zenodo.21316992 All SDS Alliance guides: www.sdsalliance.org/guides Share your story for the upcoming Essential Guide: www.sdsalliance.org/pacer-story Project PACER: www.sdsalliance.org/pacer Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

Your Data, Working Harder: SDS-GPS Joins RDCA-DAP If you are participating in SDS-GPS, you've already taken an important step toward powering research and clinical trials that are being developed now. This month, that contribution of your lived experience just got bigger. SDS-GPS data is now flowing into RDCA-DAP (the Rare Disease Cures Accelerator–Data and Analytics Platform), one of the largest integrated data platforms for rare disease research in the world. RDCA-DAP is run by Critical Path Institute (C-Path), a nonprofit that works with the FDA to help researchers design better clinical trials for rare diseases. Our research program, SDS-GPS, hosted on Matrix (built by Across Healthcare), now feeds de-identified SDS-GPS data into RDCA-DAP. This is a brand new integration, and we are excited to be part of the pilot program alongside two other rare disease communities. This has been a long way coming, as we have been exploring collaboration opportunities with RDCA-DAP for several years. If you missed their introduction to our community at SDS POPS 2023, check it out here. Why this matters Rare disease research keeps running into the same problem: patients are hard to find, and their data is hard to align. Any single disease, including SDS, may only have a few hundred documented patients worldwide. That makes it nearly impossible for any one registry, or any one research team, to gather enough data on its own to answer the questions that matter most: how does SDS actually progress over time, and what should researchers measure to know if a treatment is working? RDCA-DAP was developed to solve exactly that problem. It standardizes data from different sources such as registries, natural history studies, patient-reported data, survey data, and clinical trials, so researchers can study it together. Once SDS data is part of that system, researchers anywhere in the world can use it to study disease progression and help identify the kind of measurable endpoints that future SDS clinical trials will need. This has always been the vision behind SDS-GPS. We don't just want to collect data, but build the infrastructure to share it responsibly, so that the information you contribute can go further and help drive real progress toward treatments, including the gene therapies and other approaches our community desperately needs. Rare disease research keeps running into the same problem: patients are hard to find, and their data is hard to align. At SDS Alliance, we've always wanted to close that gap while building the infrastructure to pool data with others, so SDS patients' contributions can go further, faster. — Eszter Hars, Ph.D., CEO of SDS Alliance What this means for you You don't need to change anything on your end. You can continue using SDS-GPS as you have so far. As always, none of your personal information is ever shared. Only de-identified data, meaning nothing that identifies you personally, moves into RDCA-DAP. If you'd like more detail on how your data is protected in SDS-GPS, check out our recent blog about data privacy here: Your Data Is Safe: SDS-GPS Privacy. What does change is the reach of what you have or will contribute. Data that once lived only in our registry is now part of a shared research infrastructure, alongside data from other rare disease communities, to turn patients' and families' lived experience into treatments. What we're working on next This integration is a meaningful step, but other challenges in the rare disease field remain: how do we connect the same patient's data across multiple, separate datasets, without sharing or exchanging identifying information? We're pursuing collaborations with other SDS data holders, and exploring privacy-preserving approaches that would let researchers analyze data across multiple datasets and across multiple time points, without ever seeing who any of it belongs to. Options include shared identifier systems already used elsewhere in rare disease research, like NIH's Global Unique Identifier (GUID) or the newer Clinical Research ID (CRID), as well as third-party tokenization tools, like those offered by Datavant, that are built specifically for this purpose in health data. SDS Alliance is committed to addressing the infrastructure gaps in order to accelerate therapy development for SDS - to give our families more birthdays to celebrate. If you're a researcher, data holder, or organization interested in exploring this work with us, we'd love to hear from you. Reach out at gps@sdsalliance.org. Haven't joined SDS-GPS yet? If quality-of-life data that reflect what SDS actually looks like day-to-day, or our upcoming survey on patients' perspectives on gene therapy, weren't reason enough, here's one more: joining now allows your data to be part of an international research infrastructure that helps move treatments forward, while safeguarding your privacy. Joining is free. It takes about 30-60 minutes to fill out the baseline surveys, and you can take breaks anytime. All you need is a device with internet access. If you have your genetics report available, please consider uploading it when prompted. No medical knowledge required. Make your voice count. Questions about this survey or SDS-GPS? Visit the information page at www.sdsalliance.org/sds-gps or contact us at gps@sdsalliance.org. 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Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this month’s SDS Spotlight, Eszter Hars, Ph.D. — molecular biologist, SDS Alliance CEO, and mother of a child with SDS — shares a brand new tool we developed for patients and families to learn about gene therapy for SDS, and how their voice can help move it forward. One step closer to Clinical Trials by 2030. In this episode of SDS Spotlight, I share a brand-new tool we developed for you — patients and families living with SDS — to help you learn about the types of gene therapy being considered. How you can help move gene therapy forward for SDS Gene therapy for SDS is getting closer to reality. Research has reached a stage where your perspectives — what you hope for, what you worry about, and what you need to know — can shape what gets developed and how. This is your invitation to be part of this work. What patients and families told us they want to know A few weeks ago, we ran a quick poll in our Family Network Facebook group. We asked: What would you most want to learn about gene therapy for SDS? Nearly 40% of you wanted to know when it will be available. Another 27% wanted to know who would qualify. There was less interest in how it works and what the risks are. The key questions from the patient and family community: When and for whom. These are hard questions to answer. We don't know yet. What we do know is that the timeline depends, in part, on how well prepared the community is when trials open. And that preparation starts now. Why gene editing? Why for SDS specifically? Let's look into what makes gene editing the right approach for SDS, and why it took until now to get here. If you have watched our genetics video, you already know that SDS is caused by a spelling mistake in the instruction book that tells your body how to build and run itself. One specific spelling mistake — called the splice-site mutation, or c.258+2T>C — is present in virtually all patients whose SDS is caused by changes in the SBDS gene. Because almost everyone shares this same change, researchers can focus their entire effort on correcting that one typo. That is unusual in rare diseases, and helps us tremendously in moving development forward. Are you new to the genetics of SDS? Our short video explains the basics: Not sure how SDS works at the genetic level? Start here. SDS Alliance genetics explainer video — understanding genes, mutations, and Shwachman-Diamond Syndrome But correcting a spelling mistake in a living cell, and enough of them, is not easy. Until recently, gene therapy approaches were not efficient or precise enough. Traditional gene therapy approaches added extra copies of a gene in multiple spots in the genome, which doesn't work for SDS either, because the body needs exactly the right amount of SBDS protein. Not too much, not too little. More recent CRISPR tools worked with more precision, but they cut both strands of DNA in ways that blood stem cells don't handle well. This is where the newer generation of gene editing tools comes in. Base editing and prime editing — developed by Dr. David Liu at the Broad Institute or MIT and Harvard — can find and fix a single letter in a three-billion-letter instruction manual without cutting both strands of DNA. They make smaller, more controlled changes that blood stem cells tolerate far better. And they correct the spelling mistake in its original location, which is essential for preserving the body's natural control over how much SBDS protein is made. Here is Dr. Liu explaining how these tools work, in his own words: Dr. David Liu, inventor of base and prime editing, explains how these gene editing tools work. These tools are now ready for patients. Clinical trials using these approaches are already underway for other blood disorders (not yet SDS), with early results promising and laying the groundwork for additional genetic disorders. For SDS specifically, researchers have shown these tools work in early lab studies. No clinical trials yet — but we are getting closer. We make learning about gene therapy for SDS easy for you Our brand-new interactive guide to gene therapy, specifically for SDS patients and families, is ready! Gene therapy is a complex topic. We get it. That is why we built an interactive guide specifically for SDS patients and families. No scientific background needed. The guide walks you through what gene therapy for SDS would actually look like, the three approaches being studied, who they are designed for, and what is still unknown. If you want to go deeper into the science, that option is there too, but it is completely optional. There are animations, visuals, and plain-language explanations at every step. You can go at your own pace, come back anytime, and share it with anyone in your life who wants to understand what is happening in SDS research. This is the conversation the SDS community deserves to have. Start here. What we still need to learn — and why your voice matters Here is what the science and lab research cannot tell us: What matters most to you. Researchers can design a therapy that works in a lab. They can show that it is safe in animal models. They can run a Phase 1 trial to establish safety in humans. But they cannot design a trial that works for our patients without knowing what they actually want and need. Do families want a preventive approach — something that could reduce future leukemia risk before the disease progresses — even if it means being among the first to try it? Or do they want to wait until their situation becomes more urgent? How do families think about chemotherapy as part of the process? What would it take for a family to say yes to an experimental therapy? What would make them say no? Researchers, therapy developers, and regulators (such as the FDA) need to hear from you. They cannot get this information from anywhere else but YOU. And the time to share your voice is now, before trials open, when the answers can still influence how trials are designed, who is included, and what outcomes are measured. That is exactly what we are building toward. What you can do right now This fall, SDS Alliance is launching a gene therapy survey on our patient survey and registry platform, SDS-GPS. It will ask you about your priorities, your concerns, and your perspectives on three different approaches being considered for SDS. Your responses will inform researchers and help shape how gene therapy is developed for SDS patients. The survey opens in September. But you can get ready now. We have built an interactive educational tool to help you understand the landscape before the survey opens. It includes the three approaches being studied, who they are designed for, and what we still don't know. The science behind gene editing for SDS is also explained, but it's optional. The tool is designed for patients and families, not scientists. No prior knowledge needed. And if you are not yet on SDS-GPS, now is a great time to set up your account. Onboarding takes about 30–60 minutes, and once you are set up the survey will be waiting for you in September. A note on timing We know the question families most want answered is "when". We cannot give you a an exact date. What we can tell you is that the science is advancing, the tools exist, and the SDS community is making progress. Clinical trials for other blood disorders are generating data that will pave the path for SDS. And you sharing your voice now is a critical piece of the puzzle. The question is no longer if. It is when — and how well-prepared we are when the moment arrives. Your perspective is part of that work. Join us. Questions about this survey or SDS-GPS? Contact us at gps@sdsalliance.org Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below