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

Shwachman-Diamond Syndrome Alliace's Vision and Mission: Improve patient's lives by accelerating reasearch, fostering international collaborations, and providing quality educational and awareness materials. Vision & Mission A Cure for SDS A Cure for SDS From the Founder, Dr. Eszter Hars, February 2020 “Mom, why do I have SDS? Why can’t I be like everyone else?” my daughter asks me… Imagine a world where SDS could just go away, life could be normal, and we could live without the fear that another shoe is going to drop… How can we get there? As a Molecular Biology PhD, a biotech executive, and the Mother of a sweet 6-year-old girl with SDS, I ponder this question every day. What is SDS? Shwachman-Diamond syndrome (SDS) is a rare disease that affects many parts of the body. Like many patients with SDS, my daughter has problems digesting and absorbing food. When she was little, every time she had my milk, she would be in so much pain that she would scream for hours, arching her back in agony. Can you imagine what that feels like to a mother? Even today, getting her to eat and grow is a constant struggle. Typical for SDS patients, my daughter also has a compromised immune system, which means a fever from a common cold can turn into a trip to the emergency room, or worse. On top of that, many SDS patients have skeletal problems. Some need their rib cages surgically expanded, just so they can breathe. Worst of all, SDS patients face a very high risk of developing leukemia at a young age―30% by age 30. Unlike leukemia in normal kids, which can be treated, leukemia in SDS patients is inevitably fatal. There is no treatment currently. It’s like living with a ticking time bomb. To mitigate the risk of leukemia, the current standard of care is bone marrow biopsy every year. The hope is to find pre-cancer clones early enough so that leukemia development can be stopped using bone marrow transplantation preemptively. However, bone marrow transplantation is a brutal process―it is a dangerous year-long ordeal and has serious long-term side effects. Bone marrow transplantation is really a last resort. Even so, biopsies cannot always catch bad clones, and bone marrow transplantation often fails to stop leukemia. A Cure for SDS What if therapy could be developed to stop blood cells from going bad and prevent leukemia development in the first place? Such therapy would correct the underlying problems of SDS and give us confidence that the bone marrow biopsy results would come back okay. We might not need bone marrow biopsy anymore! With such therapy, we would no longer have to worry about leukemia; we could expect our kids to have a normal life, as if SDS had just gone away; we could attend their graduation, dance at their wedding, and see their family grow... How wonderful would that be!? I believe that such therapy is nearly at hand. The science is there, and there are many types of therapies that can possibly get us there. These therapies have been applied successfully to several rare diseases: Sirolimus (repurposed drug) for Castleman disease Libmeldy (gene therapy) for metachromatic leukodystrophy Spinraza (antisense oligonucleotide drug) for spinal muscular atrophy Zokinvy (small molecule drug) for progeria Luxturna (gene therapy) for congenital amaurosis and retinitis pigmentosa Many more are in clinical trials (for severe combined immune deficiency, sickle cell anemia, and Fanconi anemia). Why isn’t it available for SDS? Therapy development is a complicated process that involves scientific research, disease modeling, drug development, clinical trials, regulatory approval, and patient participation. It requires many areas of expertise. We are very fortunate to have outstanding researchers and doctors who dedicate their careers to SDS, but there are still many gaps that they alone cannot overcome. The problem has to do with how medical research is funded. Before a researcher can start doing research, (s)he has to apply for a grant from a funding agency, which in the U.S. is primarily the National Institute of Health (NIH). The grant application process can take years and in the end, fewer than 10% of the applications get funded. A critical component of a successful application is early data, because the data demonstrate that the research plan is likely to succeed, and that the researchers have the ability to carry out the project. The problem with SDS research is that most researchers have never heard of SDS, let alone have sufficient data to get government grants. No data; no grant. And with no grant funding, there will be no research or early data. It’s a catch 22. Together, we can make it happen! We established the SDS Alliance to break this vicious cycle and enable therapy development. Our strategy is to: Provide seed funding to highly selected experts and help them generate early data to get government grants. Provide bridge funding to top researchers between government grants to keep research going. Partner with research institutions and companies to develop essential tools for therapy development. Organize patients to participate in research and clinical trials to enable new therapy development. Remember the successful therapies that I mentioned above? Every one of them is a direct result of these actions. The strategy works. All we have to do is replicate the success for SDS! When we succeed, we will be able to live freely without the fear of leukemia, and life will be normal as if SDS had gone away! The path is tried-and-true and YOU have the power to get us there. We need to take action NOW, because leukemia won’t wait. Please donate today. Let’s make it happen! Why isn't it available? Togethe we can make it happen! Donate

A collection of podcasts, broadcasts, books, social media, films, and art projects relevant to Shwachman-Diamond Syndrome and Rare Disease. Podcasts and other Media relevant to SDS and Rare Disease Today, the world wide web is rich with all sorts of media enriching the lives of SDS and other rare disease families. Below is a list of some highlights. If you would like to share additional resources, please email connect@sdsalliance.org . Enjoy! Podcasts (List inspired by Fanconi Anemia Research Fund) Shwachman-Diamond Syndrome (SDS) One episode on the Eureka's Sounds of Science podcast interviewing SDS patient and advocate Gracie van Brunt, with a focus on her story and music: https://eureka.criver.com/podcast/e27-my-rare-disease-does-not-define-me Coming soon : The SDSF Live! show hosted by SDS moms Nicole Shen and Michelle Grenell of the Shwachman-Diamond Syndrome Foundation is being converted to podcast. In the meantime, it is available on their YouTube channel, here . Caregiving & Parenting Real Men Podcast - Jacks Caregiving Coalition Happy, Healthy, Caregiver Podcast Dr. Ross Greene (including an episode on Back To School during the pandemic) Business, Science, Policy Rare Perspective Podcast Rare Disease, Cell & Gene Therapy Weekly Roundup AI in Drug Discovery An Arm & a Leg Podcast Healthcare Policy Podcast Biopsychosocial / Impact / Advocacy Diverse Perspectives on Health & Illness Podcast RARE Cast Rareshare Openly Rare Beyond Your DX Ten Percent Happier Meditation for Fitness Peeps Sickboy Misguided Notions Podcast Disarming Disability Nordcast (new by NORD) Patient Stories Rare in Common Once upon a Gene (by Effie Parks) Psychosocial (Kids) Be Calm Ahway Island Bedtime Stories Peace Out

Patient stories - from the Shwachman-Diamond Syndrome community, for the Shwachman-Diamond Syndrome community Patient Stories Stories connect. This page is dedicated to our global community of patients and families who are all impacted by SDS in various ways. No matter whether your SDS is "mild or severe", your story matters! We want to paint a picture of what SDS looks like and how varied the experiences are -- so that more patients can be diagnosed sooner and benefit from community support and better treatments. We also want to show the world that the SDS community is strong and worthy of investment into new therapies and cures. Join us by sharing YOUR story. Contact the SDS Alliance on Facebook or email us at connect@SDSAlliance.org and fill out this release form . We are publishing patient stories on the SDS Alliance blog, Facebook page, Twitter, and more. You can make it as personal as you like with names, photos, and more, or keep it more private to fit your preference. We will help with editing and layout. We will work with you. One Year Later: The SDS PFDD Voice of the Patient Report Is Published — and Your Voice Is Already at Work The Shwachman-Diamond Syndrome Voice of the Patient report is now published and submitted to the FDA. Learn what the EL-PFDD meeting captured, how the report is used, and what comes next. How to Fundraise for Shwachman-Diamond Syndrome Research: A Free Guide for Families and Supporters SDS Alliance's free fundraising guide helps families and supporters raise funds for Shwachman-Diamond Syndrome research — on their own terms, at any level. Project PACER: Building Shwachman-Diamond Syndrome Education Together Take our 5-minute survey to shape Project PACER - a comprehensive Shwachman-Diamond Syndrome education manual and course. Co-created by patients, caregivers, and medical experts. PCORI-funded initiative. Octavian's SDS Story 2: A Rare Gem with EFL1, Year Two One year has passed since we have shared with you all our first year as a family of 4. In our first chapter we have discussed about our journey from noticing that something might be wrong with our Octavian and the long and intense journey of getting the right diagnosis, finding the right medical center and medical team to provide Octavian the care he needs and concluded with a strong statement of acceptance and a promise to live life the fullest despite SDS. 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, 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 Octavian's SDS Story: A Rare Gem with EFL1 "We have reached the stage of acceptance and trying to live life the fullest despite SDS" Shares Octavian's dad, Raul. Read this Romanian... Alex's SDS Story and Diagnostic Odyssey (US) "My journey as a mother of a child with a rare disease began when I had my 20-week ultrasound while pregnant with my son Alex", shares... How Elijah inspired Hero Kids in the Making - an SDS Story from the US I wanted my son to see himself as a brave hero overcoming his reasonable fears associated with the pain and uncharted aspects of his medical 2023 Annual Global Virtual Fundraiser - 4 Million Steps Closer to #CureSDS - Huge Success This October, we conducted the 4th annual global virtual fundraiser to support SDS research. The theme this year was 4 MILLION STEPS... 2022 Annual Global Virtual Fundraiser - Three Million Steps Closer to #CureSDS - Huge Success Again This October, we conducted the third annual global virtual fundraiser to support SDS research. The theme this year was THREE MILLION... Ángel Leonardo's SDS Story from Mexico [Spanish and English] "My parents taught me that apart from receiving help, I must also help. I have a big heart and I am a teacher of life for my family, a... A Blast from the Past: Cresta's SDS Story from the US "I look forward to many more years and to support research to aid SDS patients in the fight against leukemia and Myelodysplastic... Mike's SDS Story from The Netherlands [Dutch and English] "I hope to be able to support and help people where necessary with my story." Shares Mike's mom Irma. Read this Dutch family's story,... Nora's SDS Story with a Twist: Our Quest for a Cure "I needed to push for what I thought my daughter needed. I was her voice." Shares Nora's mom Lisa. Read this US family's story, here. If... 2021 Annual Global Virtual Fundraiser - Two Million Steps Closer to #CureSDS - Huge Success At the end of September, we conducted the second annual global virtual fundraiser to support SDS research. The theme this year was TWO... 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... Betty's SDS Story and Journey through Bone Marrow Transplant "The news of her diagnosis was hard to hear, but it was what it was, so my husband and I just decided to be positive." Shares Betty's mom... Whitner's SDS Story and Journey to Bone Marrow Transplant "My journey to diagnosis has been nothing short of an adventure, filled with many obstacles, hundreds of specialists, and much... Kim and Harrison's SDS Story from the UK "My son has taught me so much and through him I have grown as a person in stature, confidence and emotional stability. I have seen the... Ryker's SDS Story and Journey to Bone Marrow Transplant "Ryker has been such a strong little man throughout these past couple of years with going through so many tests, procedures and doctor... Healing Henley. An SDS Story told by Henley's mom, Jess Picture and story about Jess and daughter Henley (who suffers from Shwachman-Diamond Syndrome), preparing for bone marrow transplant. Carter and Skye's Story: A short video for Maddie Riewordt's Vision Carter and his sister Skye both have Shwachman-Diamond Syndrome (SDS) and went through stem cell transplants, recently. Gracie van Brunt – singer, songwriter, and rare disease advocate – shares her story in a podcast. Gracie van Brunt – singer, songwriter, and rare disease advocate – shares her story in a podcast. Max's Story: A short insight as part of the 2020 Jeans for Genes Max and his family are raising awareness for Shwachman-Diamond Syndrome and rare disease by participating again in the 2020 Jeans for Genes Gracie's Story: Finding my voice and insights into my BMT Gracie - a young adult SDS patient in the US, shares her story about finding her voice and her bone marrow transplant. About a mother's relentless quest for a cure for SDS By Emily Williams / Boston Children's Hospital In this post, you can learn about the passion and efforts of a mother to a young daughter... Teen author dedicates a children’s book to her twin brother with Shwachman-Diamond syndrome Boston Children's Hospital's Patient Stories section features an SDS family's story. Read the whole story, here. Sophia Namazy, 14, wrote... How families are reshaping Shwachman-Diamond syndrome research By Emily Williams / Boston Children's Hospital In this post, you can learn about the experiences of two families affected by... Share with us your SDS journey. It is a wonderful resources for new families and old friends alike. We can help you write if you like. Simply contact us at CureSDS@gmail.com. Welcome to your blog post. Use this space to connect with your... Do you have an SDS story to tell? Would you like to share your SDS journey with the SDS community? Let us help you create a blog post. Email us today at CureSDS@gmail.com. Welcome to your blog post. Use this space to connect with your... After Amazon mix-up, man becomes advocate for little boy with Shwachman-Diamond Syndrome In 2018, a wonderful friendship unfolded as a result of a mishap. Now the SDS family got an extra super advocate as a result. Read the... A mom from NZ explains how her rock ‘n roll lifestyle was turned upside down by SDS. Written for The Spinoff magazine (NZ) / By Kiki Van Newtown In this story, you can learn about this Rock 'n Roll family's journey with...

Shwachman-Diamond Syndrome - the most current, up-to-date, peer-reviewed diagnostic and treatment guidelines, for doctors and other health care providers. Publications and Diagnostic & Treatment Guidelines Key Publications Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Dror Y, Donadieu J, Koglmeier J, et al. Ann N Y Acad Sci. 2011 ;1242:40–55. doi:10.1111/j.1749-6632.2011.06349.x The purpose of this document is to provide guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications. New recommendations regarding diagnosis and management arepresented, reflecting advances in understanding the genetic basis and clinical manifestations of the disease based onthe consensus of experienced clinicians from Canada, Europe, and the United States. Shwachman-Diamond Syndrome Adam Nelson, MBBS and Kasiani Myers, MD. https://www.ncbi.nlm.nih.gov/books/NBK1756/ GeneReviews [ http://www.genereviews.org ], an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online. © 1993-2020 University of Washington Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances. Reilly CR, Shimamura A. Blood. 2023 Mar 30;141(13):1513-1523. doi: 10.1182/blood.2022017739. PMID: 36542827 Free article. [in French] Protocole National de Diagnostic et de Soins Maladie de Shwachman Diamond Mars 2023 Coordination : Centre de référence Maladies Rares : Neutropénies Chroniques Aurelia Alimi & Jean Donadieu Available at https://www.has-sante.fr/upload/docs/application/pdf/2023-04/pnds_sds_complet.pdf Free document Additional resources for physicians and researchers Up-To-Date: Shwachman-Diamond Syndrome Cancer Therapy Advisor: Shwachman-Diamond Syndrome We regret to inform you that the QUOSA's copyright-compliant platform we used will be retired in Q3 2023. While we are transitioning to a new tool, please email us at Library@SDSAlliance.org if you need assistance accessing any SDS related publications.

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

Patient-friendly overview of Shwachman-Diamond Syndrome: clinical presentation and underlying cause. What is SDS or Shwachman-Diamond Syndrome SDS is a genetic disorder. It affects many parts of the body. You can't catch it from someone who has it. It is due to typos in the DNA, inherited from the parents. SDS affects each person differently, with changes over time. Frequently observed symptoms include: Digestive system problems and exocrine pancreatic insufficiency ➜ pain, malnutrition, slowed growth, failure to thrive, feeding issues, elevated liver enzymes Immune system problems and neutropenia ➜ frequent or serious infections, urgent hospital visits Problems with the bones and skeletal system ➜ hip/knee pain and possible restricted breathing, small stature Brain and cognitive issues ➜ learning and behavioral challenges at home and school Problems with the blood-forming system (bone marrow) ➜ bone marrow failure, low blood counts, and high risk of developing blood cancer/leukemia (e.g. MDS/AML) ➜ need for monitoring with frequent blood draws, bone marrow biopsies; some (but not all) will need a stem cell transplant. The blood-related issues are of particular concern and can be life-threatening. About 1 in 3 SDS patients develop leukemia (AML) by age 30, with a very poor prognosis. The prevention of this complication is our focus. Learn More Free Testing In SDS, a typo in the DNA prevents the creation of enough ribosomes in the cells. With not enough ribosomes, the cells in the body cannot make enough protein - one of the major building blocks of life. Ribosomes are huge protein complexes themselves that make all proteins in our cells by assembling amino acid chains, like hands building towers of Lego blocks. If we don’t have enough ribosomes, our cells struggle to make all the proteins - including enzymes - we need to live and thrive. No wonder that so many organ systems are affected. More Science Kids' Corner

Our work would not be possible without your financial support. We make it simple to make a gift through our online donation tools and more. Your Donation Saves Lives Donate Securely with Credit Card, ACH, or PayPal Give One Time or Monthly Join our Monthly Giving Allies : your monthly contribution will support our work year-round — ensuring that we can maintain our ongoing efforts to make SDS research possible and efficient. To set up a regular donation, select the “Monthly” option on the form on this page, or the Monthly Giving Allies campaign page . You can cancel or make changes anytime. Click here to open the donation form in a new window in case the embedded form is not working for you. donate Double Your Impact Employer Matching Many corporations match employee donations to nonprofit organizations — meaning your gift to SDS Alliance could be doubled, or even tripled, at no extra cost to you. It takes about five minutes. Search for your company using the tool below, and follow your employer's instructions to submit a match request. SDS Alliance is a registered 501(c)(3) nonprofit, and we will provide any documentation your employer needs. Charity Navigator employer matching search lets you Search for your company → Not sure if your company participates? Ask your HR department or check your employee benefits portal. Many people are surprised to find their employer offers this benefit. Questions? Email us at gifts@sdsalliance.org — we are happy to help. Employer-gift-match Monthly Giving Allies is our new community-powered monthly giving circle. It brings together families, caregivers, friends, and supporters who want to help accelerate research, strengthen advocacy, and advance therapy development for Shwachman-Diamond Syndrome. Monthly giving isn’t about the amount. It’s about being counted. When many families give even a small amount each month, it shows researchers, funders, and biotech partners that the SDS community is large, united, and determined to push for progress. Every Ally strengthens our collective voice. Every gift fuels the mission to #CureSDS. Every action takes us closer to Clinical Trials by 2030. Every contribution enables us to give SDS patients more birthdays to celebrate. Why Monthly Giving Matters * Helps fund long-term, high-impact research projects * Demonstrates community strength to funders and scientific partners * Supports therapy development initiatives * Provides predictable, reliable funding * Shows unity and determination within the SDS community Small monthly gifts add up — because there is Strength in Numbers to #CureSDS. Go to Monthly Giving Allies Form Learn More Fundraise with an Event & Personalized Webpage Set up a personalized fundraising page on our GiveLively donation platform , by clicking the "Start a Fundraiser" button on any of our fundraising pages or here . All donations go into the SDS Alliance bank account, and donors receive an automatic receipt right away. You can create fundraisers for any special occasion or to increase your impact at any time of the year. Email gifts@sdsalliance.org for help. We will be happy to assist. Fundraising Tips Download Guide Donate or Fundraise through Facebook We are an approved charity on Facebook. Visit our Facebook page at www.facebook.com/SDSAlliance and use the "Donate" button at the top, donate to an existing fundraiser benefiting us, or create your own personalized fundraiser. Send a Check in the Mail If possible, please give us a heads about your check and confirming the address by emailing us at gifts@sdsalliance.org., so we can keep an eye on it and ensure that you receive a receipt and heartfelt thank you in a timely manner. Make checks payable to Shwachman-Diamond Syndrome Alliance. Send to: Shwachman-Diamond Syndrome Alliance PO Box 2441, Woburn, MA 01888, USA. Wire from Your Bank Please contact us at gifts@sdsalliance.org for details. Use Your Donor Advised Funds New! Our donation form at the top of this page, managed by GiveLively, now offers DAF as an option during checkout. On all our campaign pages. It uses DAFpay by Chariot to securely connect to your Donor-Advised Fund (DAF). After selecting that option, you’ll be asked to log in to your DAF provider. Learn about DAF grants through Give Lively. Open GiveLively Donation Form Alternatively, we also partnered with Every.org to process DAF donations. If you use a Donor Advised Fund (DAF), your receipt from Every.org will not be tax-deductible as the tax deduction was already received at the time you contributed to your DAF. For any other payment method, you will get a tax-deductible receipt emailed to you. Your donation is made to Every.org, a tax-exempt US 501(c)(3) charity that grants unrestricted funds to Shwachman-Diamond Syndrome Alliance Inc on your behalf. As a legal matter, Every.org must provide any donations to Shwachman-Diamond Syndrome Alliance Inc on an unrestricted basis, regardless of any designations or restrictions made by you. FAQ How does Every.org accept my donation? Your donation is made to Every.org, a US 501(c)(3) public charity. Every.org will immediately send you a receipt by email. On a weekly basis, Every.org grants to Shwachman-Diamond Syndrome Alliance Inc. This process ensures your eligibility for a tax deduction, enables you to consolidate your gift records, and reduces the burden on Shwachman-Diamond Syndrome Alliance Inc. Are there any fees? We do not charge any fees to accept DAF gifts, and currently cover all the Chariot fees. Every.org does not charge any platform fee of our own, because we are a nonprofit. Instead, we rely on the generosity of donors to fund our mission of philanthropy for everyone. Will I receive a tax-deductible receipt for my donation? If you use a Donor Advised Fund (DAF), your receipt from Every.org will not be tax-deductible as the tax deduction was already received at the time you contributed to your DAF. For any other payment method, you will get a tax-deductible receipt emailed to you. Open Every.org DAF Donation Form crypto Donate Crypto (NEW) We partnered with Every.org to process Crypto donations. Your donation is made to Every.org, a US 501(c)(3) public charity. Every.org will immediately send you a receipt by email. We then partner with PayPal Grants to grant to Shwachman-Diamond Syndrome Alliance Inc on a monthly basis (or semiannually for balance under $100). This process ensures your eligibility for a tax deduction, enables you to consolidate your gift records, and reduces the burden on Shwachman-Diamond Syndrome Alliance Inc. Are there any fees? Our exchanges generally charge a 1% flat fee to automatically liquidate cryptocurrency. Every.org does not charge any fees of our own. Open Crypto Donation Form Planned Legacy Gifts & Bequests You can leave a legacy while at the same time supporting the mission of the SDS Alliance. We are committed to making your gift meaningful to you. A bequest through your will allows you to designate a specific dollar amount or a percentage of your estate to SDS Alliance. A bequest may reduce the amount of your taxable estate, which may increase the actual amount available to loved ones. Please talk to your attorney or financial advisor to determine the best way to include us in your estate plans. Contact us at connect@sdsalliance.org or +1-617-329-1838. Stock and IRA Charitable Giving Gifts of Stock that have been held for more than 12 months offer two-fold tax savings: a tax deduction for the full fair market value of the stock on the date of the gift and capital gains can be avoided. Please talk to your tax or financial advisor. Individual Retirement Account (IRA) owners over age 70½ may make a transfer of up to $100,000 per year to qualified charities, including Shwachman-Diamond Syndrome Alliance. IRA charitable rollovers are tax-free and not included in adjusted gross income. An IRA charitable rollover may fulfill part or all of your required minimum distribution (RMD). For more information on making an IRA contribution please talk to your tax or financial advisor. Personalized Memorial Page Every life should be celebrated and every loved one should be remembered. Creating a personalized memorial page in loving memory of a loved one is a way to remember those who have recently passed and a way to provide a dedicated link for friends and family to make a donation. You can personalize this page with text and a photo. As long as the page remains active, you can continue to use it to invite gifts in memory of your loved one. To create a personalized memorial page, use our donation platform and click "I want to fundraise for this" as described above. Or, contact us at connect@sdsalliance.org or call us +1-617-329-1838 for assistance. For any questions or comments, please email us at gifts@sdsalliance.org

A community resource for patients and experts in Japan for Shwachman-Diamond Syndrome (SDS). Fundraiser October 2020 SDS Community in Japan 日本のSDSコミュニティ Resources for families and professionals 家族や専門家向けのリソース 2025 年度 SDS 交流会2 暑さ厳しい季節ですが、皆様いかがお過ごしでしょうか。 4 月に初めてのシュワッハマン・ダイアモンド症候群(SDS)交流会を開催したところです が、渡邉先生・Eszter 先生のご厚意で 2 回目の交流会を開催する運びとなりました。 今回は、6 月にアメリカで行われました SDS の学会・交流会(International Congress on SDS)について渡邉先生からご報告をいただきます。また、Eszter 先生か らは、アメリカなどでの患者家族と医療スタッフとの交流の仕方についてお話いただく予定です。 お忙しい中とは存じますが、貴重な機会ですので皆様ぜひご参加いただければ嬉しいです。 日時:9 月 20 日(土) AM10:00-11:00 講師: 渡邉健一郎先生(静岡県立こども病院 血液腫瘍科 科長) Eszter Hars, Ph. D.(Shwachman-Diamond Syndrome Alliance 創設者兼 CEO) 参加者:SDS の当事者の方、ご家族の方、関係者の皆様 Zoom にて行います。参加は無料です。 お申込み ミーティング登録 - Zoom (https://zoom.us/meeting/register/-x00wKM4Rg-X-2RLQ1gXvQ ) ↑こちらにご登録ください。 Community in Japan | Shwachman-Diamond Syndrome Alliance (http://www.sdsalliance.org/japan) ↑もしくは、上記サイトの申し込みフォームから登録をお願いいたします。 締め切り:9/18(木)まで お問合せ japan@sdsalliance.org (担当:sanaki) 当事者家族のため、プライバシーの観点からニックネーム記載としております。個別のお問合せには本名 でお返事いたしますので、ご了承ください。 お申込み Join us for the first community webinar シュワッハマン・ダイヤモンド症候群（SDS） April 26, 10 AM (Zoom) 4月26日（土）AM10:00-11:00 シュワッハマン・ダイヤモンド症候群（SDS） 相談会・お話会 専門家のお二方を交え、普段気になっている治療のこと、生活のことなど、一緒にお話 この会を、日本のSDSの当事者の方・ご家族の方同士が繋がるきっかけにしたいと思っしてみませんか？ ています。 ぜひお気軽にご参加ください！ ウェビナーの講演者: 静岡県立こども病院　血液腫瘍科　科長 渡邉　健一郎先生 Shwachman-Diamond Syndrome Alliance創設者　兼　CEO Eszter Hars, Ph. D. お問い合わせアドレス: japan@sdsalliance.org 担当:Sanaki* * 当事家者族のため、プライバのシ面かーらニックネ ムの記載としておりますが、個別のお問い合わせには本名でお返事いたします。ご了承ください。 お申込み SDS Patient and Family Stories in Japan 日本のSDS患者と家族の物語 sanakiさん の物語 お子さんが生後10か月の頃にシュワッハマン・ダイアモンド症候群と診断。現在1歳8か月。 sanakiさんご自身は会社員として育休を取得中。 就園のハードルの高さ、同じ疾患を持つ方とつながることの難しさを感じている。 Sanaki のストーリーを読む Sanaki へのメール What is SDS? This information is currently available in English, but we plan to translate it to Japanese for your convenience soon. What other information would you like to access in Japanese? Please let Sanaki know at japan@sdsalliance.org . What is SDS? What is the SDS Alliance? Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a US-based 501(c)(3) nonprofit organization serving the global SDS community to improve and save the lives of people affected by SDS by focusing on research and therapy development. Roadmap Who is part of the SDS Alliance community? Patients and their families from around the world! From every continent and region. We are very happy to welcome families from Japan, too. Doctors and other healthcare providers Researchers at academic and medical institutions, biotech and pharmaceutical companies who are interested in developing treatments for us And many other stakeholders , such as testing providers, regulators, and more. Our Team

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

Shwachman-Diamond Syndrome - News and Events from around the globe! Featured News & Events Featured News Featured News on News and Events SDS Alliance News SDS & Science Snapshots All Our Blogs One Year Later: The SDS PFDD Voice of the Patient Report Is Published — and Your Voice Is Already at Work The Shwachman-Diamond Syndrome Voice of the Patient report is now published and submitted to the FDA. Learn what the EL-PFDD meeting captured, how the report is used, and what comes next. How to Fundraise for Shwachman-Diamond Syndrome Research: A Free Guide for Families and Supporters SDS Alliance's free fundraising guide helps families and supporters raise funds for Shwachman-Diamond Syndrome research — on their own terms, at any level. SDS Alliance Receives Grant from RTW Foundation to Advance Prime Editing Gene Therapy for Shwachman-Diamond Syndrome SDS Alliance announces a grant from RTW Foundation supporting prime editing gene therapy research for SDS at Boston Children's Hospital. #CureSDS 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...

Members-only page to access recordings and resources of SDS-POPS, the Patient AdvOcacy and Partneting Summit. The first, global, virtual event designed to engage all stakeholders and provide meaningful education and networking opportunities to patients, scientist, medical providers, industry representatives and regulatory stakeholders. SDS POPS Global Patient Advocacy and Partnering Summit 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. Provide feedback about POPS 2024 Recording 2024 Table of Contents with Timestamp 6:07 Session I: Patient Stories 6:35 Eszter Hars (SDS Alliance): Introduction of our latest paper as a guide through today's meeting: From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development . 9:18 Eszter Hars (SDS Alliance): EL-PFDD Externally Led Patient-Focused Drug Development Meeting in planning! 11:36 Joyce Fitz (Patient Advocate and SDS Alliance Youth Ambassador): My Story 23:20 SDS Film Project Introduction and the Premier of its Trailer! 27:24 Levi Gershkowitz ( Filmmaker, Living in the Light): About the making of the film 35:30 Meet the families from the film: A discussion with Kassi and Erika Thompson (sharing Elijah's story); and Amanda Jacobs (on behalf of Melvin and Addie), moderated by Ashley Ferreira (Community Engagement, SDS Alliance). 1:07:00 Session II: The COSMOS of Research 1:08:45 Juliane Mills (Worldwide Clinical Trials): An Introduction to the Clinical Trials 1:25:04 Eszter Hars (SDS Alliance): Where to find clinical trials, and what is Clinicaltrials.gov? 1:26:38 An example of drug repurposing and clinical trials: Mavorixafor by X4 Pharma 1:29:05 Dr. David Fajgenbaum (EveryCure): An AI-based systematic approach to finding drug repurposing candidates 1:36:56 Dr. Daniel Bauer (Boston Children's Hospital): An update and vision for Gene Therapy for Shwachman-Diamond Syndrome 1:51:41 Dr. Vanessa Merker (Harvard Medical School and Mass General Hospital): Qualitative Research and its Impact on Health Outcomes (and Drug Development) 2:08:24 Dr. Sharon Savage (NIH, NCI): What are Natural History Studies? Insights from Telomere Biology Disorders 2:26:43 Session III: SDS Alliance Collaborations for Impact 2:28:16 Dr. Eszter Hars (SDS Alliance) & Dr. Steve Murray (Jackson Laboratory): Humanized Mouse Model for Shwachman-Diamond Syndrome (AKA Mouse Project I): An Overview of the Rationale and Splicing; and an Update on the Progress to Date . 2:57:11 Dr. Eszter Hars (SDS Alliance): Brief Introduction to a new project to Develop an iPSC-based Chimeric Mouse Model for Shwachman-Diamond Syndrome (AKA Mouse Project II) 2:58:50 Dr. Eszter Hars (SDS Alliance): US ICD-10 code D61.02 for Shwachman-Diamond Syndrome and its Success within just 12 Months 3:03:30 Dr. Eszter Hars (SDS Alliance): Progress in Diagnostic Rate and Speed. Increased Access through Newborn Screening (Genomics England; GUARDIAN study) and free genetic testing resources (Visit https://www.sdsalliance.org/sds-testing ) 3:09:57 Melanie O'Leary (Rare Genomes Project, Broad Institute of MIT and Harvard): A collaboration with Shwachman-Diamond Syndrome to Support Diagnosis through Whole Genome Sequencing. More at https://www.sdsalliance.org/rare-genomes 3:19:35 Katie Russell (Broad Institute of MIT and Harvard): Estimating Genetic Prevalence using Large Datasets on Variants; EFL1 Genetic Prevalence Study 3:29:40 Ashley Thompson (SDS Alliance) and Grace Lynch (MGH, Genetic Counseling Program): SDS LENS Study (Exploring the Lived Experiences, Needs, and Stories of SDS Patients and Caregivers) 3:39:10 Eszter Hars (SDS Alliance): Summary of opportunities to get involved! Bonus: SDS-GPS 3:44:14 Eszter hars (SDS Alliance): SDS-GPS (Global Patient Survey and Collaboration Platform) : Background, Overview, and Results! NOW OPEN FOR ENROLLMENT! Visit www.sdsalliance.org/sds-gps 3:55:48 Alexis Morgan (Geisinger): An Introduction to ClinGen, ClinVar, and Genome Connect, and our collaboration with Shwachman-Diamond Syndrome Alliance 4:09:30 Eszter Hars (SDS Alliance): What have we learned through SDS-GPS so far? A few highlights. Resources The full article: From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development Free genetic testing resources: https://www.sdsalliance.org/sds-testing Rare Genomes Project: https://www.sdsalliance.org/rare-genomes Probably Genetic: https://www.sdsalliance.org/probably-genetic Mouse Model I Kickoff Meeting Video: SDS Science SPOTLIGHT - The Humanized... More videos about SDS Science and the Key Concepts on our Science Page: https://www.sdsalliance.org/science Dr. Dan Bauer's full-length video on Gene Therapy for SDS Amy Doyle's talk about the experience of siblings of SDS patients and slide deck X4 Pharma's 4Ward Study Information: Website and Handout (PDF) 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 . 2023 Recording 2023 Table of Contents with Timestamp This was the first-ever global virtual patient summit for Shwachman-Diamond Syndrome, free to attend for the whole community. Welcome and Introduction 00:00 Welcome and Patient Stories: Dr. Eszter Hars, President and CEO, SDS Alliance, and mother to a child with SDS Patient Stories 10:48 Patient Stories: Gracie Van Brunt , Singer/Songwriter/Topliner, SDS Patient 24:04 Patient panel: Lisa Superina , Mother of two young kids with SDS 34:13 Patient Panel: Julie Martindale , Mother of a child with SDS, post-transplant Science Session 49:58 Science Session: Reflections Cambridge Congress 1:08:20 Therapeutic Targets 1:13:18 Therapeutic Targets: DNA and Gene Therapy: Dr. Christian Brendel (Boston Children's Hospital) 1:26:54 Therapeutic Targets: RNA-based and targeting Therapy: Dr. Valentino Bezzerri (University Hospital of Verona, Italy) 1:43:51 Therapeutic Targets: Protein targeting with small molecules: Dr. Alan Warren (Cambridge, UK) - recording of an earlier presentation Patient Voice and Data for Impact 2:11:19 Patient Voice and Data for Impact (Introduction by Eszter Hars, SDS Alliance) 2:19:49 Patient Voice and Data for Impact: Dr. Alexandre Betourne, Executive Director, RDCA-DAP Closing Remarks 2:48:53 Closing remarks: Dr. Eszter Hars Resources mentioned in the meeting SDS and Science learning resources for patients and families: https://www.sdsalliance.org/understan... Video about surveillance by Dr. Akiko Shimamura and Dr. Kas Myers the SDS Registry: https://www.sdsregistry.org/physician... The draft consensus guidelines from 2011 and other important references: https://www.sdsalliance.org/diagnosti... Webinar on GUIDs and patient identifiers hosted by RDCA-DAP: GUIDs and De-Identification Tools for... Joining the Global SDS Alliance Global Network: Join button on top of https://www.SDSAlliance.org To learn more about SDS-GPS and/or our cell biobank program: https://www.SDSAlliance.org/sds-gps To support our work, visit https://www.SDSAlliance.org/donate More information about our mouse project: https://www.sdsalliance.org/post/sds-... https://www.sdsalliance.org/post/mous... https://www.sdsalliance.org/post/mous... For professionals, see a list of available research tools here: https://www.sdsalliance.org/research-...