This is the latest issue of the SDS Alliance Blog! Welcome to timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you! Genetic testing reports can seem overwhelming at first glance—especially with all the complex scientific terms and data. But each section of a genetic testing report  tells an important part of your or your child’s genetic story . For families affected by Shwachman-Diamond Syndrome (SDS) , understanding these reports is key to making informed medical decisions and contributing to vital research programs/registries like SDS-GPS (Global Patient Survey and Collaboration Program) . Where to Find Your Genetic Testing Report If you already completed genetic testing, you should be able to access your full report through the provider or platform where the test was ordered. Many genetic testing laboratories offer online patient portals (e.g., GeneDx and Blueprint Genetics), where you can log in and download the report directly. You can also request a copy from the clinician who ordered the test—usually a genetic counselor, hematologist, or pediatrician. If your child was tested years ago, the report may be stored in the hospital’s medical records department, and you can request it through a Records or Health Information office. If you have never received a copy of the full written report , you are fully entitled to one, and having direct access is important for your ongoing care and for contributing to research programs such as the SDS-GPS. If you are having difficulties accessing your report, please reach out to us at genetics@sdsalliance.org for help. Why a Genetic Diagnosis Matters While clinical symptoms may strongly suggest SDS, a confirmed genetic diagnosis  provides clarity that symptoms alone cannot. Only genetic testing can determine which gene is affected (such as SBDS, DNAJC21, EFL1, or SRP54) and whether the pattern of inheritance fits SDS. This information is crucial for several reasons: It ensures the correct diagnosis and avoids misdiagnosis with other bone marrow failure disorders. It guides medical surveillance and treatment decisions, especially for monitoring leukemia risk. It helps determine recurrence risks for future pregnancies and whether family members should be tested. It allows individuals to participate in research programs like the SDS-GPS and clinical trials. A genetic report helps accurately contribute to global SDS knowledge. Even if SDS is strongly suspected clinically, confirming the diagnosis through genetic testing provides a foundation for precise care, family planning, and research participation. Why It’s Important to Understand Your SDS Genetic Testing Report When you know how to read your genetic testing report, you can better: Interpret your or your child’s results Discuss next steps with your care team Decide whether additional testing is needed Contribute valuable information to SDS research Have an opportunity to participate in research like clinical trials This understanding is especially important in rare diseases like Shwachman-Diamond Syndrome (SDS) , where every result helps improve diagnosis and treatment for the entire community. Why Getting a Genetic Diagnosis for SDS Matters While many individuals may show clinical features suggestive of Shwachman-Diamond Syndrome —such as pancreatic insufficiency, low blood counts, or bone marrow abnormalities— a confirmed genetic diagnosis  is essential. Here’s why it matters: Accuracy and Certainty: Clinical symptoms can overlap with other bone marrow failure syndromes or pancreatic disorders. Only genetic testing  can fully confirm SDS and identify the exact gene variants  responsible, most commonly in the SBDS gene . Personalized Care: A genetic diagnosis guides your healthcare team in developing a tailored care plan, including monitoring for complications  like bone marrow failure or leukemia, which may vary depending on the gene involved (e.g., SBDS , DNAJC21 , EFL1 , or SRP54 ). Family Planning and Carrier Testing: Knowing the specific variants allows for family member testing , carrier screening , and genetic counseling  for future family planning. Access to Research and Support: Many research studies and clinical trials, especially gene therapy and other precision medicine approaches, require a confirmed genetic diagnosis to ensure accurate data and targeted advances in therapy. While not required, a confirmed genetic status makes all research efforts, including SDS-GPS richer and allows for more learning and meaningful conclusions. Community and Advocacy Impact: A confirmed genetic diagnosis strengthens collective research data and improves advocacy for SDS-specific treatments and resources . It also open doors for community support. Bottom line:  If you or your child show symptoms consistent with SDS, genetic testing is the best way to confirm the diagnosis and unlock the most appropriate care and research opportunities. Key Elements of a Genetic Testing Report A typical genetic testing report includes several main sections: Patient Information  – Basic identifying details such as name and date of birth. Test Details  – Which genes were analyzed, the testing method, and the lab performing the analysis. Findings / Results  – The specific genetic variants  (mutations) identified. Interpretation  – What those variants mean for health or diagnosis. Recommendations  – Suggested next steps, such as parental or sibling testing. What Do Genetic Variant Classifications Mean? Each genetic variant is classified according to how likely it is to cause disease: Pathogenic  – Proven to cause disease. Likely Pathogenic  – Strong evidence it causes disease. Variant of Uncertain Significance (VUS)  – Not enough data to know yet. Likely Benign  or Benign  – Normal genetic differences that do not cause disease. Note:  Most reports only list variants that could be related to disease. Benign variants are rarely included. Which Genes Are Important in SDS? In Shwachman-Diamond Syndrome , variants (mutations) in the SBDS gene  are the most common cause . However, other genes may also play a role in causing SDS or SDS-like syndromes, including: DNAJC21 EFL1 SRP54 Identifying which gene is affected helps confirm the diagnosis and guide clinical care. Germline vs. Somatic Genetic Testing: What’s the Difference? Understanding whether your report reflects germline  or somatic  testing is essential: Type of Testing What It Looks At Purpose Common in SDS? Germline Testing DNA variations you were born with Diagnoses inherited conditions, such as SDS ✅ Yes — to establish or confirm an SDS diagnosis Somatic Testing DNA changes that occur later in life (e.g., bone marrow cells) Monitors acquired mutations, to monitor blood stem cell health and asses leukemia risk ✅ Yes — to check for changes in the blood stem cells, either using bone marrow samples or peripheral blood. Recommended on a yearly basis or more, if changes are detected. Germline reports  may include information about whether variants were inherited from parents. Somatic reports  often list many variants and show the variant allele frequency (VAF)  — the percentage of cells carrying each change. Understanding the type of test helps you interpret what results are most relevant for your family. Learn more about germline vs. somatic genetic testing in our Ask-an-Expert webinar Featuring Dr. Lisa McReynolds titled "What are cloned, germline vs. somatic mutations, and why do they matter in SDS?" Learn more about genetics and what you need to know: Key insights for the Shwachman-Diamond Syndrome Community We prepared a short overview video to help you get all you need to know. What Is a “Family Studies” or “Segregation Analysis” Section? Some reports include family study results , which indicate whether each variant was inherited from one or both parents. This process helps determine phase —whether the two variants are on the same or opposite copies of a gene. If all mutations are on the same copy of the gene, that would leave the other copy to be healthy, and the person would be a carrier rather than having SDS. In SDS, having two variants on opposite copies of the SBDS gene (one from each parent)  is typically required for a confirmed diagnosis. How Sharing Your Genetic Report Advances SDS Research By understanding and sharing your results, you contribute directly to SDS research . Uploading your or your child’s report to the SDS-GPS  is a meaningful way to participate—you can upload them anytime, or reach out to the GPS team for assistance at gps@sdsalliance.org . Each report helps researchers: Discover possible new SDS-related genes Improve genetic testing accuracy Develop better treatment strategies Give you access to participate in research and clinical trials Your report can help uncover new insights and accelerate progress for everyone affected by Shwachman-Diamond Syndrome Frequently Asked Questions (FAQ) 🧬 What does a pathogenic variant mean in SDS? A pathogenic variant  is a genetic change known to cause Shwachman-Diamond Syndrome  or another disease. In SDS, these are most often found in the SBDS gene . 🧩 What is a Variant of Uncertain Significance (VUS)? A VUS  means the lab found a change in your DNA, but there isn’t enough scientific evidence yet to determine whether it causes disease. Over time, as more research becomes available, VUS results can be reclassified. 👪 Can parents or siblings be tested for SDS? Yes. Family testing  helps determine whether a variant was inherited and whether other family members may carry the same change. This information can also clarify uncertain results. 🧫 Why might someone with SDS have both germline and somatic test results? Some people with SDS undergo somatic testing  (e.g., on bone marrow) to monitor for genetic changes that might increase the risk of myelodysplastic syndrome  or leukemia . This type of surveillance help determine the best timing and type of intervention. 🌍 What is the SDS-GPS program? The SDS-GPS (Global Patient Survey and Collaboration Platform, a type of Registry)  is an international initiative that collects and curates genetic testing reports from people with SDS, in the context of patient/family reported data on how SDS affects them. Sharing your results helps scientists better understand the genetic landscape of SDS and develop improved treatments. Empowering the SDS Community Through Knowledge Understanding your SDS genetic testing report  empowers you to ask informed questions, advocate for your family, and support life-changing research. Every report shared and every family engaged helps bring the SDS community one step closer to better diagnostics, care, and cures. Do you enjoy the SDS Alliance Blog? Sign up for alerts about new posts using the button on the top right of this post :

In this issue: Join the community webinar and Q&A session to learn all about the EL-PFDD meeting on Shwachman-Diamond Syndrome and have all your questions answered! This is your chance to make a real impact on future treatments and a brighter future for all SDS patients. Be heard by the FDA, researchers, doctors, and all stakeholders. This is the latest issue of the SDS Alliance Blog! Welcome to timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you! Dear patient/caregiver, Have you heard about the Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome planned for June 4th, 2025 in a hybrid format (Zoom and in-person in Cincinnati, OH)? See all the details at www.SDSAlliance.org/pfdd This is a big deal for all of us and we want the entire SDS community to be involved and active! To prepare, we are hosting a community webinar and Q&A session next Thursday, January 23, 4 pm ET, to answer all your questions! Meet your host, and learn from the expert consultant James Valentine who is supporting the planning process. Register for the community webinar and Q&A today, here: https://zoom.us/meeting/register/g7CpXvQMSkS8PiOs4XicXw After registering, you will receive a confirmation email containing information about joining the meeting. Why you should join the community webinar and Q&A to learn more about the SDS PFDD meeting? Externally-Led Patient Focused Drug Development (EL-PFDD) Meeting is a special types of meeting developed and overseen by the US Food and Drug Administration (FDA) to facilitate capturing the lived experiences of people who have a certain health condition, in this case Shwachman-Diamond Syndrome, in order to facilitate regulatory decision making, research prioritization, and clinical trial design in a way that benefits us, the patients. This community webinar will provide an overview of what this type of meeting entails, and how you can get involved. As we shared on the SDS PFDD meeting page, there are several ways to get involved. The webinar is a great opportunity to get all your questions answered. We will hear from PFDD experts, our consultants, who are helping us plan and implement a high-impact PFDD meeting for Shwachman-Diamond Syndrome After a brief introduction by your host, Dr. Eszter Hars/SDS Alliance, we will hear from out PFDD consultants James Valentine and Larry Bauer, of Hyman, Phelps, and McNamara. James Valentine assists medical product industry and patient advocacy organization clients in a wide range of regulatory matters, including new drug and biologic development and approval issues. Mr. Valentine also works with clients on clinical trials operations and compliance matters. About our speaker and consultant, James Valentine, and his role in the SDS PFDD meeting We chose James as our partner and guide in planning the SDS PFDD meeting due to his unparalleled experience and dedication to the community and this mechanism to accelerate therapy development for rare diseases like SDS. Working with James, we are also benefitting from the support of his colleague Larry Bauer. They are both former FDA officials who were involved with the launch of the PFDD initiative in 2012 and in private practice have helped with over 70 EL-PFDD meetings to date, which is the majority of EL-PFDD meetings ever to take place! More details about the SDS PFDD meeting (planned for June 4th, 2025) and opportunities to get involved at www.SDSAlliancce.org/pfdd . Our speakers at this webinar (Ask an Expert series): Larry Bauer and James Valentine from Hyman, Phelps & McNamara James has worked the last 13 years as a champion for the patient voice as part of the regulatory process.  James previously worked at the FDA where he was a patient liaison, helping to incorporate the patient voice into medical product review across the FDA’s various medical product centers and review divisions.  There, he helped to develop and launch the Patient-Focused Drug Development initiative.  Larry worked at the NIH for 17 years in clinical research, followed by a position at the FDA as a Regulatory Scientist in the Center for Drug Evaluation and Research’s Rare Diseases Program, a group he co-founded and worked for 10 years, where he advanced rare disease drug development. In private practice, James and Larry have worked with many patient organizations to ensure their community’s voices were heard by decision-makers.  Relevant to our EL-PFDD meeting, they has been involved in helping plan and moderating three-fourths of the over 75 externally-led PFDD meetings. Before joining the firm in 2014, Mr. Valentine worked in FDA’s Office of Health and Constituent Affairs (previously Office of Special Health Issues) where he facilitated patient input in benefit-risk decision-making and served as a liaison to stakeholders on a wide range of regulatory policy issues. Mr. Valentine administered the FDA Patient Representative Program, facilitated stakeholder consultations during the reauthorization of PDUFA and MDUFA, helped launch the Patient-Focused Drug Development program, and developed the FDA Patient Network. Mr. Valentine also worked at the Center for Drug Evaluation and Research’s (CDER) Office of Regulatory Policy where he coordinated the implementation of the medical gases certification scheme that was established in FDASIA and handled a variety of postmarket safety issues including REMS and safety labeling changes. The Patient Voice is absolutely critical for patient focused drug development and advancement of any treatment. This is true for Shwachman-Diamond Syndrome (SDS) as well. EL-PFDD meetings  give the FDA and other key stakeholders, including medical product developers, healthcare providers, and federal partners, an important opportunity to hear directly from people living with SDS, their families, caregivers , and patient advocates about the symptoms that matter most to them, the impact the disease has on people’s daily lives, and their experiences with currently available treatments. This input can help inform the FDA’s decisions and oversight during drug development and new drug review, which is crucial for expanding options for improving the lives of those living with SDS. It will also help medical product developers, researchers, clinicians, and the general public gain an in-depth understanding of what living with SDS really means. The EL-PFDD meeting is a once-in-a-lifetime opportunity for you—patients and caregivers—to use your voice and make an impact on the future of SDS therapy development. It is an opportunity to share your experience and perspectives on living with SDS, particularly as they relate to the community's unmet needs and consideration for future therapy development efforts. Learn more on the EL-PFDD for SDS information page. There will be several ways and opportunities for you to contribute your voice, from speaking at the EL-PFDD meeting live or virtually, responding to polls and discussion during the meeting, filling out surveys ahead of the meeting, and participating in a qualitative research interview (SDS Patient LENS study). Right now, we are specifically looking for patient and caregiver speakers/panelists for the EL-PFDD meeting - in person in Cincinnati, OH on June 4th. Applications are now open through January 26, 2025. Apply using this survey .  Selected speakers/panelists will receive support in developing and delivering their stories through professional coaches, and their travel/accommodation will be covered. Childcare may be available upon request. Other ways to get involved are available on the SDS PFDD website at www.SDSAlliance.org/pfdd Please note that the EL-PFDD meeting is scheduled to take place on the day before the SDS Congress  (11th International Schwachman Diamond Syndrome Scientific Congress in Cincinnati, OH), at the same or nearby location (and via Zoom). While we are coordinating logistics with the SDS Congress organizers, the two events are independent of each other. Registrations don’t carry over from one to the other. We look forward to hearing from you about how you would like to contribute to the EL-PFDD meeting to elevate the patient voice and use it to drive change and improve therapeutic options.  Do you enjoy the SDS Alliance Blog? Sign up for alerts about new posts using the button on the top right of this post :

"We have reached the stage of acceptance and trying to live life the fullest despite SDS" Shares Octavian's dad, Raul. Read this Romanian family's story, here. Octavian’s SDS Story – Our rare gem with EFL1 second year   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.   For those who did not yet read our first chapter , we would like to start things off with a short introduction. We are a family of 4 from Romania (Eastern Europe).  Me (Raul) and my wife Claudia, we have 2 wonderful sons, Victor who is a very energetic, smart and kind 6-year-old, that just started school in Romania and Octavian our 2-year-old son – probably the cutest and happiest child I have ever seen - who is a true SDS warrior.   Octavian has a rare condition: SDS triggered by a mutation on the EFL1 gene.   Kicking of 2025, I would like to be able to tell you all that we celebrated Christmas and rang in the new year as most families do, by the Christmas tree with family and friends … We were preparing for the holiday season, decorating the tree and getting ready for Christmas, when all the sudden Octavian developed an acute case of pneumonia. So, around December 22, we had to go to the ER…   It was quite a severe infection that despite antibiotics soon turned worse and after about 1 week he was sent to the intensive care ward and the doctors at the time were starting to discuss  about the possibilities of having to intubate him.   We are in love with our hometown in Romania (Oradea). It’s a great place to live and the perfect place to start a family, but there is one thing that is missing…. A medical team that understands and knows SDS and how to treat SDS patients.   Again, with the luck of being born in a family where both my parents are Pediatricians, my parents quickly stepped in and informed the ICU team about the protocols for treating infections in SDS.   It was the first time for Octavian to have thrombocytopenia where his counts got as low as 28000, and received two platelet transfusions that brought his counts back to 37000. After the transfusions, a cocktail of antibiotics and a lengthily stay at the hospital, Octavian was discharged in January and we were very focused on his recovery and getting back with his routine for, physical therapy, and developmental therapy.   One thing however was always on our mind – the fact that he developed thrombocytopenia… We simply could not sleep on it, so we started emailing our medical team in Verona Italy and were scheduled for a visit and a first bone marrow biopsy in May. For this visit, we also were determined to have ourselves and our older son Victor tested to see if any of us would be compatible donors for Octavian if the need would ever present itself.   As we reached Verona, Claudia and Octavian were admitted in the hospital under Dr. Marco Cipolli’s care and Victor and me were somewhat on a father and son vacation…     The first bone marrow biopsy harvest went smooth and uneventful. It’s amazing how resilient small children are, after the anesthesia effects were gone, it was like it never happened and Octavian experienced no pain or significant discomfort after it. The doctors mentioned that it is less painful for children as the bones are not hardened as they are by adults.   Remember how we promised to live life the fullest despite SDS? After the hospital stay was concluded, we turned our Italy trip in a small vacation, discovering beautiful lake Garda and its surroundings, spending some days in the Italian Dolomites and concluding with a short visit of Graz in Austria.         There was nothing left to do but to wait for the results of the bone marrow biopsy… and well, live…   We were informed that the results would be ready in a month’s time, and in the meantime we had the chance to show Octavian the sea for the first time in his lifetime. I want to praise a bit just how resilient this little one is, as for now, we have never flown with him, choosing to go everywhere by car. Our trip from Oradea to Verona is 1160 km long (about a 11-12 hour drive), and now, we are getting ready for an even longer car trip to Greece.     Not long after our return home, we received the results from the Bone Marrow Biopsy:   “We received the final data of Octavian last week. These analyses reveal a negative prognostic value, increasing the risk of bone marrow transformation. We discussed these results also with Dr Cesaro, the Onco-Hematologist. The best choice is to review Octavian soon here for a new follow up and understand your compatibility as donors.”   So shortly, after in July, we were back in Verona with Octavian for a 2nd Bone Marrow Biopsy, this time, in the direct care of the Pediatric Oncohaematology Department of Dr. Simone Cesaro.   The second Bone Marrow Biopsy was done in an ambulatory regime, and this time, we had to wait longer for the results due to the upcoming August vacation period, so we had a good 1,5 to 2 months waiting period.   It’s never easy to just stay and wait for any results, its even harder to do this knowing that  there is a high chance for receiving bad news, but we did our best to get back in our daily routines and focused as much as possible on the upcoming happy events in our life, especially Victors 1st day of School!     Close to Victor’s first day of school we received the results from Verona:   “Octavian has a mutation responsible for transforming to acute myeloid leukemia that has increased in frequency from  6 to 16%. This is a clear indication to perform the stem cell transplant asap . waiting more means  risking the onset of leukemia and, nowadays, an acute myeloid  leukemia TP53 positive is basically incurable (probability of survival  inferior to 10%). Having a brother as a donor, we can organize the transplant in 4-5 weeks.”   With heavy hearts and a sea of uncertainty ahead of us, we have agreed to be back in Verona for starting the transplant procedures on the 14th of October, thus having the chance to celebrate Octavian’s second birthday home before staring this complex procedure.     With the suitcases packed and the booth of the car filled to the brim, we started our 3 rd trip of the year towards Verona.     As I am writing these words, today, (02.11.2025), Octavian and Claudia are at the hospital in isolation getting ready to start chemo tomorrow. Victor my oldest is still sleeping and getting ready to play his part in the coming weeks as he is scheduled to donate on the 13.11, the day when Octavian is also scheduled to receive the stem cells transplant.   A long and hard recovery is going to await us. Claudia and Octavian will stay in Verona for the coming 8-10 months for Octavian’s full recovery. Victor and me will have to go back to Romania after the transplant for Victor to continue school and afterwards I will do my best to be both in Verona and in Oradea to balance the needs of both my children and wife.   We fear what’s to come, but somehow are also extremely grateful and thankful for all the kindness and support we have received during our journey so far.   The medical staff of both Dr. Cipolli and Dr. Cesaro are amazing with us offering both care and comfort at any moment.   We are extremely grateful for the amazing support ABEO ODV Verona is offering our family in terms of accommodation and moral support during our extended stay here.   And we are thankful for my employer ( Accesa.eu ) for giving me the much-needed time off to focus on my family for the time being.   And none the less we are thankful for the countless and immense support of family and friends + the SDS Community that has helped us fully understand how to help Octavian.   [Written and submitted from Octavian's dad, Raul]

Project PACER kicked off in Cincinnati and online on June 4th, 2025, to build capacity for patient-centered CER for Shwachman-Diamond Syndrome. Focus: The Voice of the Patient. This is the latest issue of the SDS Alliance Blog! Welcome to timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you! 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. Shwachman-Diamond Syndrome (SDS ) is a life-threatening, rare, genetic, bone marrow failure disorder that severely affects the quality of life and causes a high-risk of leukemia (1 in 3 patients by age 30) with catastrophic consequences. It affects about 2,000 patients in the US, many of whom are yet to be diagnosed. Patients and caregivers feel hopeless and unheard, as there are no pathways or opportunities for them to partner in research planning and prioritization, resulting in slowed progress in research toward improved quality of life and therapies and reduced mortality. This project will focus on building capacity and opportunities for SDS patients to use their voice and effectively partner in all stages of research, in particular CER. The project will Create a patient/family advisory board (FAB) comprising patients and caregivers who are knowledgeable and confident in sharing their lived experiences (the Patient Voice ) to positively impact all aspects of research through training and workshops. Build a scientific/medical advisory board (SMAB) proficient in patient-centered CER  and expand the research community with expertise in patient-centered CER and methods for meaningful engagement with patients through training and workshops. Create a Voice of the Patient Report  and meeting to serve as a resource for patient-centered CER on SDS, and develop a framework for multi-stakeholder partnerships as well as a process/toolkit for multi-stakeholder patient-centered CER idea generation and prioritization. The project will deliver a wide range of outputs, including multi-stakeholder meetings, a Voice of the Patient Report, surveys and evaluation tools, a stakeholder partnership and collaboration framework, training and learning resources, and toolkits, all geared toward achieving a long-lasting impact on research. In the short term, we will increase patient engagement as partners in all stages of research, enhance understanding of CER, and provide broad access to and use of the Voice of the Patient Report. In the medium and long term, we will build on these results and strive to facilitate and deliver impactful CER projects that are successfully executed, delivering benefits to patients, significantly improving quality of life and healthcare outcomes, and ultimately saving lives. “We are incredibly excited for this work to elevate the patient voice and role in all phases of CER for SDS. We know that patients are not only essential as research participants, but that research is inevitably better and more relevant when they are involved early on and in all aspects of research planning,” shares Dr. Hars.  This project, “ Building capacity for patient-centered CER on Shwachman-Diamond Syndrome ,” is part of a portfolio of projects funded by PCORI to help develop a community of patients, caregivers, clinicians, and other stakeholders who are better equipped to engage as partners in all phases of patient-centered comparative clinical effectiveness research (CER) and to disseminate results of PCORI-funded studies. PCORI is a nonprofit organization with a mission to fund research that will provide patients, their caregivers, and clinicians with the evidence-based information that is needed to make better-informed health care decisions. Project PACER kicked off with a meeting on June 4th, 2025 in Cincinnati, OH and online. Watch the recording, now. To learn more and to participate in the project, visit the Project PACER page at www.SDSAlliance.org/pacer The Externally-Led Patient Focused Drug Development Meeting (SDS PFDD) is part of Project PACER The SDS Alliance hosted this milestone event to amplify the patient voice and communicate the unmet needs of the community, thereby accelerating therapy development and building capacity for patient-centered comparative clinical effectiveness research (CER). A comprehensive meeting report is in development and will be distributed later this fall. The SDS PFDD Meeting was a dream come true. THANK YOU to the SDS community for showing up in all the right ways in full force. It was a very emotional event, but for a very important purpose: to communicate to the researchers and regulators what our unmet needs are, what would be a meaningful change, and that we are here to make therapies a reality. Learn all about the Externally-Led Patient Focused Drug Development Meeting on the SDS PFDD event page at www.sdsalliance.org/pfdd . The full raw recording is now posted. Patients and caregivers! Please share your insights and feedback to be included in the report! While the offical deadline of July 4th has passed, we are still able to accept your comments. All details are available at on the SDS PFDD event page at www.sdsalliance.org/pfdd . Do you enjoy the SDS Alliance Blog? Sign up for alerts about new posts using the button on the top right of this post :

Cincinnati welcomed two key events for SDS in June 2025: the SDS PFDD meeting and the International Scientific Congress on Shwachman-Diamond Syndrome, elevating the patient voice in therapy development. This is the latest issue of the SDS Alliance Blog! Welcome to timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you! Cincinnati welcomed two key events for SDS in June 2025: the SDS PFDD meeting and the International Scientific Congress on Shwachman-Diamond Syndrome. Externally-Led Patient Focused Drug Development Meeting (SDS PFDD) - June 4th, 2025 The SDS Alliance hosted this milestone event to amplify the patient voice and communicate the unmet needs of the community, thereby accelerating therapy development. A comprehensive meeting report is in development and will be submitted to the FDA later this fall. The SDS PFDD Meeting was a dream come true. THANK YOU to the SDS community for showing up in all the right ways in full force. It was a very emotional event, but for a very important purpose: to communicate to the researchers and regulators what our unmet needs are, what would be a meaningful change, and that we are here to make therapies a reality. Learn all about the Externally-Led Patient Focused Drug Development Meeting on the SDS PFDD event page at www.sdsalliance.org/pfdd . The full raw recording is now posted. Patients and caregivers! Please share your insights and feedback to be included in the report by July 4th. All details are available at on the SDS PFDD event page at www.sdsalliance.org/pfdd . We received amazing feedback from FDA staff following the meeting. We met with several physician-scientists from the FDA to hear about their takeaways from the SDS PFDD meeting. They shared how extremely moved they were, and that they were glued to the screen for the entire meeting. They feel privileged to have been able to hear directly from patients, and could feel the impact that the meeting had on the patient and caregiver community itself. They were deeply moved by the vulnerability that the speakers allowed, opening a window into their lives. FDA attendees walked away with a deep appreciation for the complexities of life with SDS, including the impact of the risk of AML on patients' quality of life and the impact of other symptoms, such as bone and orthopedic issues, as well as digestive issues. Top of mind: mitigating the risk of AML came through loud and clear. And the need for creative approaches for drug development in this space. - A member of the FDA in attendance of the SDS EL-PFDD meeting. International Scientific Congress on Shwachman-Diamond Syndrome, Cincinnati - June 5-8, 2025 Details are available on the congress website at www.sdscongresscincinnati.com , including the agenda: www.sdscongresscincinnati.com/content/docs/2025/agenda.pdf The SDS Congress takes place every other year, alternating between Europe and North America, and hosted by different Key Opinion Leaders in the SDS field each time. This year, it was hosted by Drs. Kasiani Myers and Stella Davies (Cincinnati Children's Hospital Medical Center). A formal summary is forthcoming from the organizing team. Here, we share our reflections for patients and the community who were not able to attend. There was no recording or remote access offered. Day 1 The first day of the SDS Congress in Cincinnati,OH kicked off on June 5th, 2025 with a session chaired by Kasiani Myers, MD (Cincinnati Children's Hospital Medical Center) & Akiko Shimamura, MD PhD (Boston Children's Hospital), titled: Living with SDS . Dr. Kasiani Myers, MD (Cincinnati Children's Hospital Medical Center), sat down with Brittanya, Jayden’s mom, for a chat to hear their story and insights into their experience with SDS and transplant. Brittanya also shared their story at the SDS EL-PFDD meeting on June 4th, which was recorded and is publicly available at www.sdsalliance.org/pfdd . Her statement starts at 4:22 in the raw recording. Next, Dr. Stella Davies, MBBS, PhD, MRCP (Cincinnati Children's Hospital Medical Center) moderated a Panel Discussion on the Needs of the SDS Community, followed by a Panel Discussion, moderated by Akiko Shimamura, MD, PhD (Boston Children's Hospital) on Where should the focus be in SDS research. After a short break with refreshments and networking, the meeting shifted gears to the next session: Transitioning from Pediatrics to AYA/Adult , chaired by Alan Warren, MBChB, PhD (University of Cambridge) & Timothy Olson, MD, PhD (Children's Hospital of Philadelphia) First, we heard a great presentation on Adult phenotypes of SDS  by Christopher Reilly, MD (Dana-Farber Cancer Institute). He emphasized the importance of screening for clones using rapid heme panels throughout the life of individuals living with SDS, including adults, AND the importance of germline testing for SDS when adults present with unusual blood issues. Next, we heard from Daria Babushok, MD, PhD (University of Pennsylvania) about Transition [from pediatric to adult care for patients with] Inherited BMF syndromes. She provided an overview of the team at Penn Medicine, including pediatric and adult specialists, and explained how they collaborate to optimize patient care. Several SDS specialists from the audience contributed to the discussion about how their institutions address these needs, including pediatric providers actively building connections with adult providers in their geographic locations, organizing monthly meetings, and calling for the creation and sharing of a list of adult specialists. One pediatric provider highlighted the challenges of transition when young adult patients go off to college for just a few years, and trying to find an appropriate provider during that time, far from home. The session concluded with two selected oral abstract presentations. Oral abstract presentations are brief, focused presentations selected from the abstracts submitted to the conference in advance, and are invited as a presentation rather than a poster. Sabine Mellor-Heineke, MD, (Severe Chronic Neutropenia International Registry), shared her work on Being an Adult with Shwachman Diamond Syndrome- An Analysis of the German Cohort of the Severe Chronic Neutropenia International Registry/SDS-Registry Europe . They administered a survey to the German adult SDS cohort to learn about Quality of Life.  A surprising learning was that the adults who responded seem to be doing better than the expected cross-section of patients, probably because these patients were better positioned to respond to the survey. They also reported on a successful haploidentical transplant after AML.  Yang Wan, MD, (Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College), presented an overview of Clinical Characteristics of 121 patients with Shwachman–Diamond Syndrome in China — Result from Childhood Bone Marrow Failure Diseases Register of China Alliance for Blood Diseases (cBMFR-CABD) . The program includes 16 institutions. 6% of the patients were diagnosed as adults. 37% went through transplant. They have good experience with cord blood stem cells in transplantation, with less graft-versus-host disease (GvHD).  The last activity of the day was a very fun Interactive SDS Jeopardy  with members of the audience drawn from a bowl, hosted by Stella Davies, MBBS, PhD, MRCP (Cincinnati Children's Hospital Medical Center), Jane Koo, MD (Cincinnati Children's Hospital Medical Center), and Nicholas Gloude (UCSD/Rady Children's). The questions and answers were very lighthearted, filled with humor, and all participants received cute and sparkly stuffies as prices. Day 1 concluded with a dinner at the venue for families, sponsored by SDSF. Day 2 The second day started off with a focus on Ribosomes . First, a session on Ribosomal Biology, chaired by Nicholas Gloude, MD (UCSD/Rady Children's) and Johanna Rommens, PhD (The Hospital for Sick Children).  First, we heard a dynamic and entertaining presentation on Protein synthesis and Homeostasis in Hematopoietic Stem Cells  by Rob Signer, PhD (University of California, San Diego). He highlighted the role of proteostasis in ageing, bone marrow failure, stem cell biology, and cancer.  Next, Alan Warren, MBChB, PhD (University of Cambridge) shared his work on Targeting the Ribosome , focused on advances in high-resolution insights into the Ribosome structure and maturation. He also shared updates relevant to therapeutic development. For a background, check out Dr. Warren’s presentation we shared at SDS POPS 2023 . During the discussions, he highlighted a groundbreaking program in the UK to promote genomics-based Newborn Screening by Genomics England.  We covered this program and newborn screening at SDS POPS 2024 . Learn more here: https://www.genomicsengland.co.uk/initiatives/newborns . While no new SDS patients have yet been identified through the program, we expect some diagnoses as more sequencing is completed.. The discussion following Dr. Warren’s talk included a call for identifying endpoints in clinical trials, suggesting that neutrophil counts, growth, cellularity, and protein synthesis could serve as readouts. An SDS mom asked about how a small-molecule therapy could compare to gene therapy. Dr. Warren explained that a small molecule could potentially address issues in more organ systems, and not be limited to the bone marrow only (as current gene therapy approaches would). Last, we heard a Selected Oral abstract presentation. Johanna Rommens, PhD (The Hospital for Sick Children), shared her work on the occurrence, origins, and disease liability of genetic variation in the major Shwachman-Diamond syndrome gene, SBDS . She shared her insights from analyzing large genomic databases, such as gnomAD. We have previously covered this type of work based on our collaboration with the Broad Institute of MIT and Harvard. Learn more here . The next session focused on Related Ribosomopathies , chaired by Stefano Biffo, PhD (Instituto Nazionale Genetica Molecolare), and Steve Bruner, PhD (University of Florida). This session was more technical in nature, focused on basic science and research. Stefano Biffo, PhD (Instituto Nazionale Genetica Molecolare), presented on EIF6 and SBDS , sharing new advances in crystal structures.  Steve Bruner, PhD (University of Florida) shared his work on the Biology of SRP54 , and learning from worms (C. elegans) as a model.  Selected Oral abstract presentations included work by Alexis Bertrand, PhD (Feinstein Institute), on the Functional characterization of somatic genetic rescue-associated eIF6 mutants in the Shwachman-Diamond syndrome context Ibrahim Taha, MD, (University of Pavia), Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome    Sofia Origanti, PhD (Saint Louis University), was on the schedule to share her work on Mechanistic insight into eIF6 and SBDS mutations, but wasn’t able to attend. After a short break, the topic shifted to Novel Models of SDS , chaired by Marc Raaijmakers, MD PhD (Erasmus Medical Center Cancer Institute) -who wasn’t able to join - and Dr. Yigal Dror, MD, FRCPC (Toronto Sick Kids)  Dr. Marc Raaijmakers, MD PhD (Erasmus Medical Center Cancer Institute) talk on Stromal Biology and SBDS was cancelled, as he wasn’t able to join in person.  David Chou, MD, PhD (Wyss Institute, Harvard) shared his work on modeling IBMF on a Bone Marrow Chip . See his publication from 2020 for a great overview . At the meeting, he shared how this type of system could be used for a small-molecule drug screen and what they had learned from molecules identified in a small-scale drug screen. Selected Oral abstract presentation included a presentation by Eszter Hars, PhD (Shwachman-Diamond Syndrome Alliance), on Modeling Shwachman-Diamond Syndrome (SDS): An update on humanized transgenic mice and engraftment models using human pluripotent stem cells (iPSCs) differentiated into hematopoietic cells with engrafting capacity. Presentation slides are available upon request, and we will share the entire presentation at SDS POPS 2025! Earlier results were shared at SDS POPS 2024 . After lunch, the conference continued with the Peter Durie Memorial Keynote Lecture by Akiko Shimamura, MD, PhD (Boston Children's Hospital), titled Shwachman Diamond Syndrome: Tackling a Rare Disease . Dr. Shimamura shared an overview of the discovery and history of Shwachman-Diamond Syndrome research and treatments, celebrating the great contributions of generations of experts in the field. She emphasized that the current goals of the community include  Advancing diagnosis Identifying and treating medical issues Preventing complications, and  Improving quality of life Dr. Shimamura highlighted the impact of the SDS registry and recent advances in the field. Recent publications and presentations are available on the SDS Registry website in the researcher section . Key publications are also available on the SDS Alliance website at www.sdsalliance.org/diagnostic-and-treatment-guidelines , and a patient/family-friendly educational video on clones (adaptive and maladaptive)  is available on our science page at www.sdsalliance.org/science . The discussions also covered barriers to surveillance and opportunities to address them. A key question in SDS is: What is the lifetime risk of leukemia in SDS? Dr. Shimamura highlighted recent collaborative work in which multiple international registries, researchers, and clinicians collaborated to pool sufficient data to answer this question. See more in Dr. Jean Donadieu’s presentation on Day 3. Collaborators include researchers and clinicians from Australia, China, Finland, France, Europe, Greece, Ireland, Italy, Japan, the Netherlands, the UK, and the US. Some results were published at ASH 2024 .  There is good news on the transplant front: Treosulfan has been approved by the FDA earlier this year in the US, removing barriers to access this drug as part of a transplant regimen, following positive results and years of experience using it in Europe. However, as alluded to above and in many presentations and publications, transplant outcomes are still very poor AFTER AML develops in SDS.  Other ongoing studies and results will be shared by the SDS registry at a later time. After a networking and refreshments break, the congress program continued with a session on Novel Strategies for SDS , chaired by Allison Bertuch, MD, PhD (Texas Children's Hospital) and Helen Reed, MD, MPH (Boston Children's Hospital).  First, we heard an exciting presentation on Gene Therapy for SDS by Dan Bauer, MD, PhD (Boston Children's Hospital). He highlighted current challenges with “regular” transplants, such as the limited availability of donors, the lengthy process, and the risks associated with being immunocompromised for an extended period. Gene therapy may be able to address several of these challenges. In particular, Dr. Bauer’s work focused on Gene Editing based on CRISPR . Therapeutic gene editing for SDS may be able to overcome the fitness defect of SDS cells, with the hope that a moderate level of editing may be sufficient. Preliminary results look promising. He is also exploring Prime Editing , an approach that may work even better in hematopoietic stem cells that don’t actively divide. For a video overview, see Dr. Bauer’s presentation at SDS POPS 2025 .  Next, we learned about Genetic Bone Disease in SDS  through a presentation by Christina Jacobsen, MD, PhD  (Boston Children's Hospital). She showed radiographs of the bone defects in SDS, explained skeletal dysplasia in SDS, and suggested ways to reduce the risks, such as maintaining adequate Vitamin D levels, calcium intake, and regular exercise.  Selected Oral abstract presentations:  Helen Reed, MD (Dana-Farber Cancer Institute), shared insights into Genetic Re-evaluation of SDS-like and Neutropenia Conditions . The study enrolled over 100 patients with clinical phenotypes who are part of the SDS registry or BMF study, but have no genetic diagnosis. They received Whole Exome Sequencing or Whole Genome Sequencing through a collaboration with the Broad Institute of MIT and Harvard. About ⅓ were able to receive a diagnosis of a genetic cause for their symptoms, and ⅔ were highly suspicious. Dr. Reed presented two cases as examples.  Helena Yu, MD (UCSD/Rady Children's Hospital) presented on  Dynamic Changes in Proteostasis Network Activity Influence Hematopoietic Stem Cell Ontogeny and Fitness , expanding on an earlier presentation by her PI, Rob Signer. The day concluded with a fancy, 1920s-themed Gala Dinner at the Cincinnati Museum Center. Several key opinion leaders and young investigators received awards.  The host and location of the next International SDS Congress were announced: Paris 2027, hosted by Dr. Jean Donadieu. Day 3 The first session, focused on Translational Studies   and Evolving Phenotypes of SDS,  was chaired by Daria Babushok, MD, PhD (University of Pennsylvania), and Tarek Elghetany, MD (Texas Children's Hospital). Wei Tong, PhD  (Children's Hospital of Philadelphia) shared new insights into the role of ZNF622 in hematopoietic stem/progenitor cells  and Shwachman–Diamond Syndrome (SDS). Timothy Olson, MD, PhD  (Children's Hospital of Philadelphia) provided a great overview of Murine models of SDS . His lab focuses on the bone marrow niche, megakaryocytes, mesenchymal niche cells, osteolineage cells, and their impact on hematopoiesis.  Selected Oral abstract presentations:  Seth Corey, MD, MPH, (Cleveland Clinic) presented a talk titled:  Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and the Anna Karenina principle, discussing commonalities and differences between ribosomopathies. Dr. Corey also covered his lab’s work on developing a zebrafish model for SDS  and highlighted the benefits of the model in SDS research. Jane Koo, MD (Cincinnati Children's Hospital Medical Center) shared work on  Creating specific growth charts for children and young adults with Shwachman-Diamond Syndrome : A study from the North American Shwachman-Diamond Syndrome Registry. Results will hopefully be published soon and be available to the community. Earlier last year, the Italian SDS registry published new growth charts. See details in our blog . The next session focused on Multi-Organ Complications of SDS , chaired by Amit Grover, MD (Boston Children's Hospital) and Jane Koo, MD (Cincinnati Children's Hospital Medical Center) Amit Grover, MD (Boston Children's Hospital), provided a great overview of Gastrointestinal Phenotypes in SDS . He shared insights into the pathophysiology of Exocrine Pancreatic Insufficiency (EPI) and inflammation in SDS. He provided insights into diagnostic tools for EPI, discussing what they can help learn and their limitations, citing a 2022 article by Kan et al . He noted that even with optimal Pancreatic Enzyme Replacement Therapy, there may still be malabsorption, reduced ADEK levels, and growth challenges.  Adrianna Vlachos, MD (Johns Hopkins All Children’s Hospital) shared her insights regarding Non-Hematologic disease in DBA: Lessons from the DBA Registry , including how data sharing for larger cohorts is necessary for better insights. Selected Oral abstract presentations: Jane Koo, MD, (Cincinnati Children’s Hospital Medical Center), shared insights into the Gastrointestinal and hepatic manifestations of Shwachman-Diamond Syndrome: A report from the North American Shwachman-Diamond Syndrome Registry.  The focus of the talk was the liver. The group analyzed medical records of over 200 genetically confirmed SDS patients enrolled in the SDS registry. Approximately 30% of individuals have EPI, and many also exhibit elevated transaminases (elevated liver enzymes). More than half have elevated ALT, indicative of liver injury, and less than half have resolved by age 13. The structure and size of the liver appear mostly normal, but there is evidence of inflammation. We look forward to the publication and sharing of the results in the near future, as Dr. Koo has published similar research on Fanconi Anemia. After a short break, the next session focused on Neurodevelopment in SDS , chaired by  Elizabeth Kerr, PhD (Toronto Sick Kids) and Thea Quinton, PhD (Cincinnati Children's Hospital Medical Center)  Elizabeth Kerr, PhD (Toronto Sick Kids), focused on Neurodevelopmental phenotypes of SDS . SDS is considered a neurodevelopmental disorder (NDD). Dr. Kerr reviewed previous imaging work on morphological changes in the brain, such as the reduced size of white and gray matter, citing a 2015 article by Parobelli et al. . While about 10-15% of the general population have a developmental delay and usually catch up, in SDS, about 50% have a developmental delay. There can be a range of psychosocial and cognitive issues, which can be categorized into intellectual function, language, memory, executive function, and visual and spatial processing. New research in IDDs is developing a framework to systematically assess these areas. There are survey-based screening tools to assess these areas. A patient-friendly presentation by Dr. Kerr is available through the SDSF Live series . Next, Thea Quinton, PhD (Cincinnati Children's Hospital Medical Center), moderated an interactive panel on addressing neuropsychological needs in SDS, particularly during the school-age years. SDSF Live has hosted Dr. Quinton for a patient-friedly talk . Selected Oral abstract presentations Arthur Trognon, PhD, (CLINICOG), Pragmatic and Cooperative Profiles in Shwachman-Diamond Syndrome: Insights from Computational Modeling.  While the cognitive and medical characteristics of Shwachman-Diamond Syndrome (SDS) are well-characterized, its impact on cooperative behaviors in social contexts remains poorly understood. This study explores the socio-pragmatic strategies of SDS children during task-based interactions. A cohort of 10 children (5 with SDS, 5 controls) participated in cognitive and ecological tasks and were scored. SDS children displayed a unique cooperative profile, prioritizing personal economic benefits over established social norms. Unlike controls, SDS children’s behaviors were minimally influenced by task directiveness. Unfortunately, Dr. Trognon’s talk was cut short due to timing issues. Read more about Dr. Tragnon’s work on SDS in his recent article, here . Grace Lynch, (Shwachman-Diamond Syndrome Alliance), Understanding the Lived Experiences, Needs, and Stories (LENS) of Shwachman-Diamond Syndrome Patients and Caregivers: Insights to Inform Research, Clinical Care, and Advocacy. Grace provided an overview of the study, explained the methods used, and showed some preliminary results. Her slides and abstracts are available upon request. She and Ashley have presented an introduction to the  SDS LENS study at SDS POPS 2024 . They are still looking to add a few more adults living with SDS. Visit www.sdsalliance.org/lens  for details or email us at lens@sdsalliance.org .  Grace Lynch presenting progress on the SDS LENS Study In the afternoon, the next session focused on  Clonal Evolution in SDS , chaired by Alyssa Kennedy, MD, PhD (St. Jude's Children's Hospital) and Chris Reilly, MD (Dana Farber Cancer Institute)  Alyssa Kennedy, MD, PhD (St. Jude's Children's Hospital) reviewed Clonal Evolution and TP53 in SDS, based on her landmark publication with Dr. Coleman Lindsley. Check out our video explainer here.  This work and others support the need for thorough surveillance of SDS patients with acquired mutations at all ages. See an important article by Drs. Reilly and Shimamura, here . Felicia Andresen, MD (Boston Children's Hospital), introduced her work with the SDS registry on Alternative Pathways for Clonal Evolution in SDS . For example, she shared how TP53 variant allele frequencies (VAFs) in bone marrow vs. blood relate to each other Selected Oral abstract presentations:  Dritan Siliqi, MS, PhD, (Institute of Crystallography - Italian National Research Council), shared his work on Structural Implications of Missense Point Mutations in SBDS: Insights from a combined SAXS/MD investigation   The next session focused on Malignancies in SDS , chaired by Jean Donadieu, MD PhD (Hôpitaux de Paris) and Courtney Dinardo, M.D., MSCE (MD Anderson)  First, Tarek Elghetany, MD (Texas Children's Hospital), walked us through the challenges and complexities, as well as updates on Defining MDS in Inherited BMF . The WHO classifications/definitions keep on changing, and the approach (appearance vs. behavior) changes too. Next, Jean Donadieu, MD, PhD (Hôpitaux de Paris) shared an update on Leukemia Risk in SDS: Results of an International Collaborative Study . The aim of the study is to Determine the incidence of MDS and AML in individuals with SDS Determine the outcomes after diagnosis with MDS and AML Create a data set to analyze risk factors and predictive parameters Increase the statistical power for risk estimation They analyzed 849 subjects with confirmed SDS due to biallelic SBDS mutations. He noted that they would expect 3000 based on incidence data. Collaborators include researchers and clinicians from Australia, China, Finland, France, Europe, Greece, Ireland, Italy, Japan, the Netherlands, the UK, and the US. First insights were  published at ASH 2024 , titled: Incidence of Myeloid Malignancy in Shwachman-Diamond Syndrome: An International Cohort Study, with authors Kasiani Myers, Jie He, Ben Goldberg, Christopher R. Reilly, Yang Wan, Xiaofan Zhu, Simone Cesaro, Marco Cipolli, Alison A. Bertuch, Candelaria O'Farrell, Kenichiro Watanabe, Antonis Kattamis, Polyxeni Delaporta, Melanie Cotter, Eoghan Dunlea, Taizo A. Nakano, Amy E. Geddis, Karyn Brundige, Ian Atkinson, Katherine Coyne, Sara Loveless, Leah Cheng, Edie Weller, Jean Donadieu, Akiko Shimamura, in Blood (2024) 144 (Supplement 1): 2703, with https://doi.org/10.1182/blood-2024-206661 .   The abstract concludes: “Previously, consideration of transplant timing was limited by the paucity of data on cumulative incidence of malignancy with age in SDS due to the rarity of this condition. This international collaboration analyzed data from the largest cohort of SDS patients to date, and found that SDS is associated with a very high lifetime risk of myeloid malignancy exceeding 50% by age 50 years. This study provides data to guide discussions of surveillance and early interventions, including hematopoietic stem cell transplant for SDS patients with evidence of impending malignant transformation prior to progression to malignancy. Development of optimal surveillance approaches for early diagnosis of clonal evolution and novel treatments are sorely needed to develop effective strategies to intercept malignancy and improve survival in patients with SDS.” Key takeaways MDS and overt leukemia (MDS/AML) develop in up to 50% of SDS patients by age 50 years and account for up to 90% of early deaths in SDS Transplant (HSCT) is effective before MDS/AML develops. HSCT is not an effective treatment for MDS/AML once it develops National studies lack statistical power. INTERNATIONAL STUDIES are required to define who and when will benefit from transplant  The day concluded with a poster session, followed by drinks and appetizers.  There were several scientific posters displayed to foster discussions, including  Alison Bertuch, MD PHD (Baylor College of Medicine/Texas Children's Hospital) on SBDS influences homologous recombination, and Haploidentical transplantation in a patient with Schwachman-Diamond syndrome: A case report and review of the literature on behalf of Erin Morales, and by  Thea Quinton (Cincinnati Children’s Hospital Medical Center) on Longitudinal neurocognitive outcomes in a cohort of patients with Shwachman-Diamond Syndrome Eszter Hars, PhD (Shwachman-Diamond Syndrome Alliance), titled  SDS-GPS: A program to unite the global SDS research and patient community through a survey platform to accelerate therapy development and improve care.   View the full SDS-GPS poster is available to view here.  New and unique this year was the inclusion of PATIENT Posters  in the poster session. The posters were prepared by the SDS Alliance to facilitate conversations between patients/families and researchers/clinicians at this meeting, as well as at the SDS PFDD meeting  and the Project PACER  meeting on June 4th. They were very well received by all stakeholders. Thank you to all patients and families who participated in this project! Volunteers setting up the patient posters in preparation for the poster session at the SDS Congress Click here to view all patient posters! The Poster Session live at the SDS Congress Click to view all patient posters! Day 4 The last day was short but impactful. The first session was focused on Surveillance/ Transplant Strategies in SDS , chaired by Adrianna Vlachos, MD (Johns Hopkins All Children’s Hospital) and Akiko Shimamura, MD PhD (Boston Children's Hospital)  First, Kasiani Myers, MD (Cincinnati Children's Hospital Medical Center) shared an overview on Transplant for SDS and Inherited BMF . She emphasized the importance of an accurate and timely SDS diagnosis. 50% of patients don’t present with the classic symptoms of SDS. There are many asymptomatic siblings in the community. Therefore, if a person in a family is diagnosed with SDS and the parents are confirmed to be carriers, all siblings should be tested as well. She also noted that a mild phenotype of SDS doesn’t mean the patient is not at risk for MDS/AML. Even mild cases should receive regular surveillance. Hematopoietic stem cell transplant may be indicated for severe aplastic anemia or “high-risk features”. More details are available in this publication . Recent work has focused on improving outcomes for transplant. Outcomes remain poor for AML, but outcomes for transplant before MDS/AML have improved significantly. The final results of the Treosulfan trial, led by Dr. Laurie Burroughs, are expected early next year. Additional trials are also in the works. Dr. Myers shared results from the registry on transplant outcomes for patients with high-risk features and how clinicians determine when it's time for transplant. These results have not yet been published and will be shared at a later date. In short, the outcomes for transplant for patients with high-risk features are far better than for AML.  Next, Akiko Shimamura, MD PhD (Boston Children's Hospital) highlighted new insights into Surveillance and Timing of Transplant in SDS . She discussed the need for shared decision-making with patients and their families to find the right time, somewhere in between pre-emptive transplant and MDS/AML. MDS and AML can develop at any time; however, research indicates that the median age for MDS is 17 years and for AML, it is 28. A big challenge is that there is no CLINICAL test for clones that harbor biallelic TP53 mutations. Small clones (with VAF < 1%) can remain stable for many years; however, if they grow over time or consistently exceed 2-3%, they should be closely monitored. There are additional features that are considered high-risk and require expert assessment. More details are available in this publication . The session wrapped up with a Panel Discussion , moderated by Stella Davies, MBBS, PhD, MRCP  (Cincinnati Children's Hospital Medical Center)  The final session focused on Novel Approaches to MDS/AML in Inherited BMF , chaired by Zahra Hudda, MD (Cincinnati Children's Hospital Medical Center) and  Kasiani Myers, MD (Cincinnati Children's Hospital Medical Center).   Courtney DiNardo, M.D., MSCE (MD Anderson), discussed alternative strategies for AML in IBMF patients . Sadly, there is not much progress in this area, as outcomes are still very poor for AML in SDS. High-intensity regimens are not effective in this population. Lower intensity combinations work better, even in non-frail patients. There may be a role for sequential treatment to get patients to the transplant. She sounded optimistic that, in the next few years, better options may become available, as many trials are ongoing to improve AML treatment outcomes. Zahra Hudda, MD (Cincinnati Children's Hospital Medical Center), introduced the concept of NK cell cellular therapies for AML .  Acute myeloid leukemia (AML) is an aggressive hematologic malignancy with a high relapse rate and still limited therapeutic options, even in the general population, not just with SDS. Natural killer (NK) cell-based immunotherapy has the potential to improve outcomes for patients with AML. Recent preclinical studies and early-stage clinical trials aim to enhance the intrinsic anti-leukemic properties of NK cells by selectively targeting AML cells with chimeric antigen receptors (CARs). Read more in this review article . The congress concluded with a “Town Hall” style discussion with the audience on What’s Next in SDS , and in particular, what the audience hopes for the next congress  (Paris 2027). Patients and families shared their wish for more pro-active vs. ractive treatment options, integration of the patient voice into the research process, a focus on overal improvements in health (not just focus on the blood issues), better access to information from congress for patients and other stakeholders who are unable to attend in-peson (such as via summaries or virtual access) and also in a format that can be shared with healthcare providers. Doctors and researchers suggested a bigger focus on Quality of Life, research on pregnancy outcomes, international collaborations and studies, more clarity on diagnostics and classifications and high-risk features, more insights into cord blood use for transplants, and the ability for researchers/healthcare providers to attend congress virtually, and a concerted effort to work on biomarkers and outcome measures to accelerate therapy development. Closing Remarks by Kasiani Myers, MD. Stay tuned for a formal official summary by the congress organizers coming soon! See you in Paris in 2027! Do you enjoy the SDS Alliance Blog? Sign up for alerts about new posts using the button on the top right of this post :

In this issue: SDS Alliance opens a new qualitative research study - the SDS Patient LENS Study - to understand the unique l ived e xperiences, n eeds, and s tories of individuals with SDS (Shwachman-Diamond Syndrome) and their caregivers . This is the latest issue of the SDS Alliance Blog! Welcome to timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you! The purpose of this study is to capture valuable insights into the SDS diagnostic odyssey, the patient journey, experiences with current treatments, and unmet needs of Shwachman-Diamond Syndrome patients.  By participating, you will help capture and communicate the SDS patient experience, contribute to developing clinical care recommendations, and accelerate therapy development. It will also help us prepare for the EL-PFDD meeting for SDS  with the FDA, researchers, and other stakeholders. As a participant, you would be asked to take part in a telephone or video interview, which will last approximately 45 to 60 minutes. The interview will be conducted by a trained member of our research team. The study is completely voluntary, and your involvement will have no impact on your participation in other research efforts, initiatives, or your access to care. We are specifically looking for individuals who have been diagnosed with SDS and/or individuals who are caregivers (or guardians) for someone with SDS. To participate, you must be at least 18 years old and comfortable sharing your experience in English. The interview will cover a variety of topics, including healthcare and treatment experiences, barriers to care, and other aspects of your needs and experiences. All personal information and identifiers will be removed before analyzing and sharing data. This is an IRB approved qualitative research study conducted in collaboration with MGH. We have first introduced this project at SDS POPS 2024. Check out the presentation here: Your input will be invaluable in helping us better understand the needs of the SDS community and ensure that future clinical care and research are more informed and effective. How can I participate in the SDS Patient LENS Study? 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.  If you don’t have an SDS-GPS account yet, please visit the SDS-GPS information page at www.sdsalliance.org/sds-gps . What is the timeline for the SDS Patient LENS Study? Application are now open! Apply by February 16, 2025. Participants will be selected soon after. Interviews will be scheduled starting in early February through early March. The interviews will be de-identified and analyzed in March and April. Early analysis results will help inform the SDS PFDD meeting on June 4th, 2025, the resulting Voice of the Patient Report, and scientific meetings and publications thereafter. Where can I learn more about the SDS Patient LENS Study? We created a website for the LENS study ( www.sdalliance.org/lens ) with more details and relevant resources. If you have any questions about the study, please don’t hesitate to contact us at lens@sdsalliance.org .  The IRB-approved study overview and consent form are available for pre-viewing by clicking here . Thank you for considering this opportunity to make a meaningful contribution to the SDS community. Do you enjoy the SDS Alliance Blog? Sign up for alerts about new posts using the button on the top right of this post :

In this issue: SDSF and SDS Alliance are excited and honored to announce that an Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome  has been accepted by the FDA and is planned for June 4th, 2025 in a hybrid format (Zoom and in-person in Cincinnati, OH). Apply to be a Patient or Caregiver Speaker/Panelist today! This is the latest issue of the SDS Alliance Blog! Welcome to timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you! Dear patient/caregiver, SDSF and SDS Alliance are excited and honored to announce that an Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome  has been accepted by the FDA and is planned for June 4th, 2025 in a hybrid format (Zoom and in-person in Cincinnati, OH).   EL-PFDD meetings  give the FDA and other key stakeholders, including medical product developers, healthcare providers, and federal partners, an important opportunity to hear directly from people living with SDS, their families, caregivers , and patient advocates about the symptoms that matter most to them, the impact the disease has on people’s daily lives, and their experiences with currently available treatments. This input can help inform the FDA’s decisions and oversight during drug development and new drug review, which is crucial for expanding options for improving the lives of those living with SDS. It will also help medical product developers, researchers, clinicians, and the general public gain an in-depth understanding of what living with SDS really means. The EL-PFDD meeting is a once-in-a-lifetime opportunity for you—patients and caregivers—to use your voice and make an impact on the future of SDS therapy development. It is an opportunity to share your experience and perspectives on living with SDS, particularly as they relate to the community's unmet needs and consideration for future therapy development efforts. Learn more on the EL-PFDD for SDS information page. There will be several ways and opportunities for you to contribute your voice, from speaking at the EL-PFDD meeting live or virtually, responding to polls and discussion during the meeting, filling out surveys ahead of the meeting, and participating in a qualitative research interview (SDS Patient LENS study). Right now, we are specifically looking for patient and caregiver speakers/panelists for the EL-PFDD meeting. Applications are now open through January 26, 2025. Apply using this survey .  Selected speakers/panelists will receive support in developing and delivering their stories through professional coaches, and their travel/accommodation will be covered. Childcare may be available upon request. Please note that the EL-PFDD meeting is scheduled to take place on the day before the SDS Congress  (11th International Schwachman Diamond Syndrome Scientific Congress in Cincinnati, OH), at the same or nearby location (and via Zoom). While we are coordinating logistics with the SDS Congress organizers, the two events are independent of each other. Registrations don’t carry over from one to the other. We look forward to hearing from you about how you would like to contribute to the EL-PFDD meeting to elevate the patient voice and use it to drive change and improve therapeutic options.  Sincerely, Eszter Hars Mother of a child with SDS Founder and CEO, Shwachman-Diamond Syndrome Alliance Do you enjoy the SDS Alliance Blog? Sign up for alerts about new posts using the button on the top right of this post :

In this issue: New Publication by the SDS Alliance. From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email genetics@SDSAlliance.org or message us on Facebook! This is all for you! New Publication by the SDS Alliance: From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development The efforts of the SDS Alliance are bringing new hope to the SDS community. SDS Alliance’s very own President and CEO, Eszter Hars, Ph.D. and Dr. Lisa McReynolds, Assistant Clinical Investigator at the National Cancer Institute and member of the SDS Alliance Medical and Scientific Advisory Board published an article in the peer-reviewed Journal of Clinical Pharmacology and Therapeutics . In this article, they described how the efforts of SDS Alliance and other investigators in the SDS community have positioned SDS as a promising target for new therapies. Eszter shares: "The three major goals of this publication are to: ● Alert physicians about the new ICD-10 code for SDS ● Attract industry interest to the SDS field for therapy development ● Share our work with the SDS community and demonstrate how we, the patient community, can shape the future for our loved-ones by a driving and accelerating research" This figure from the article summarizes why SDS is a model rare disease and ready for therapy development. De-risking means removing barriers in research, in order to give therapy developers confidence that their investment is worth while and that therapy development will be financially viable for SDS. Below, we’ll explore how publishing these perspectives and advancements in a peer-reviewed journal pave the way for more research, better care, and the potential for life-changing treatments for the SDS community. The Importance of Publishing in a Scientific Peer-Reviewed Journal Publishing in these high quality journals allows high quality work to reach doctors and researchers who can use this information to further advance research. Researchers of a wide range of life-science disciplines rely on special search engines to keep up to date on the latest research and scientific insights. Instead of Google, they use PubMed , which is focused on scientific journals and other publications and organizes the basic information about the articles in a way that allows users to find relevant articles quickly, easily, reliably, and FREE. Learn more about PubMed below, and explore additional videos to dive deeper. Or just try it yourself! By publishing this article in a high-quality scientific journal - indexed by PubMed - the SDS Alliance is now able to reach doctors and researchers who are not yet engaged in the SDS community, in addition to existing experts. Here is the link to our article on PubMed . PubMed users can set up alerts based on their research interest and keywords, to receive emails if a new article is published that match those search criteria. For example, Shwachman-Diamond Syndrome, or inherited bone marrow failure, or congenital neutropenia. Now all doctors/researchers who use alerts or who search PubMed regularly will have received an alert about our publication, and have the opportunity to learn about a new angle to see the SDS patient community and our work. Below, you can see how our article appears on PubMed. We circled the button that leads to the full text of our article on the journal publisher's website (Wiley). There, you can read the full article - both the web version (easier to read on a screen) and a PDF version that looks like the printed version that will be distributed to libraries and subscribers later this year. https://pubmed.ncbi.nlm.nih.gov/39039619/ When research is published in a peer-reviewed journal, it means that other experts in the field have reviewed and validated the work. This process ensures that the information is accurate, reliable, and valuable to the scientific community. For the SDS community (and many other rare disease communities), being published in such journals is important because it increases credibility and visibility. It helps attract attention from researchers, companies, and healthcare providers who might not be aware of SDS. This recognition can lead to more research, funding, and eventually, new treatments that could make a big difference in the lives of SDS patients and their families. Understanding ICD-10 Codes and Their Importance in Rare Disease ICD-10 codes are special codes used by doctors and hospitals to identify and track diseases. For rare diseases like Shwachman–Diamond Syndrome (SDS), having a unique ICD-10 code is a big deal. It helps doctors and researchers track the condition and learn more about how it affects the SDS patient community over time, what treatments work better than others, what complications to watch for, and other invaluable data. This data can be used to understand the disease better and to develop new treatments. In 2023, SDS received its own ICD-10 code, D61.02, which marks a significant step forward for the SDS community . This new code makes SDS more visible in the medical world, leading to better care for patients and more research opportunities. If you haven’t already, we encourage you to share the ICD-10 code for SDS, D61.02, with your care team!  Why The Work of SDS Alliance Matters for Developing New Treatments This article highlights why it's crucial to bring SDS to the attention of biopharmaceutical companies—those who develop new medicines. SDS is an exceptionally good candidate for therapy development because its genetic causes are well understood, and there is strong support from the patient community and researchers. At SDS Alliance, we are dedicated to supporting SDS research and patients, and continue to work hard to establish and foster relationships with companies who support the goals and mission of SDS Alliance, including therapy development. With the new ICD-10 code, there’s now a new path for gathering data and understanding the disease better, which can aid in the development of effective treatments. This makes it more likely that companies will see the potential in developing therapies for SDS, which could change the lives of those affected by this rare condition. The Promise of SDS Alliance to Support the SDS Community With this publication , SDS Alliance highlights and summarizes our work dedicated to the SDS community to improve the lives of those with SDS and to positively contribute to the development of new therapies. Securing the ICD-10 code for SDS is one of the impactful contributions toward making SDS visible and accessing relevant data for therapy development strategies. By supporting research, providing important tools and data, and fostering a strong patient community, SDS Alliance is not only helping to bring attention to SDS but also paving the way for new and better therapies. Together, our work ensures that SDS patients are heard and that our needs are at the center of therapy development in the future. Hars ES, McReynolds LJ. From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. Clin Pharmacol Ther. 2024 Jul 22. Epub ahead of print. PMID: 39039619 . Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

In this issue: SDS-POPS 2024 covers a wide range of topics, including SDS patient voice, stories, film, and advocacy; and SDS research and collaborations for therapies R&D and cures for Shwachman-Diamond Syndrome. Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email genetics@SDSAlliance.org or message us on Facebook! This is all for you! IF YOU NEED A PASSWORD TO ACCESS, EMAIL US AT connect@sdsalliance.org SDS POPS 2024 covered a wide range to topics, from SDS patient stories, to the cosmos of research, to high impact research collaborations with the SDS Alliance Here is a Quick recap The meeting focused on Shwachman-Diamond Syndrome (SDS), covering patient stories, research developments, and advocacy efforts. Discussions included the importance of genetic testing, clinical trials, and drug development for SDS, as well as the challenges faced by patients and their families. The meeting also highlighted ongoing projects and collaborations aimed at improving understanding, diagnosis, and treatment of SDS, including a film project, patient surveys, and efforts to create mouse models for research. We invite the community to help accelerate research by considering: participating in the SDS Patient LENS study. Indicate interest in the event feedback survey . filling out the event feedback survey to help improve future events (and potentially receive a signed copy of Dr. Feigenbaum's book, Chasing My Cure) joining the SDS-GPS program to contribute patient-reported data. participating in the "Million Steps Closer to Cure SDS" fundraiser starting October 25th. participating in the Global SDS Awareness Day and Action Week campaign from November 1-7 FREE genetic testing for Shwachman-Diamond Syndrome. Visit our resource page or reach out to our team at genetics@sdsalliance.org for more resources and information. Rare Genomes Project if they have no or inconclusive results. informing their healthcare providers about the new ICD-10 code for SDS (D61.02) sharing their genetic test results through the SDS GPS program for potential submission to ClinVar. We shared updates on many topics, including SDS Alliance's continued work with Jackson Labs on developing viable humanized mouse models for SDS research. Dr. Dan Bauer's work towards therapeutic gene editing for SDS SDS Alliance to launch quality of life surveys as part of the SDS GPS program Our new qualitative research project: SDS Patient LENS study clinical trial opportunities, such as the X4 Pharma trial for chronic neutropenias Summary A thread throughout the meeting was our recent publication framing Shwachman-diamond Syndrome as Model Rare Disease Session I: SDS Patient Voice and Stories Dr. Eszter Hars, President and CEO of the Shwachman-Diamond Syndrome Alliance, led a session focused on patient voice and the importance of patient stories in understanding each other and driving research and therapy development. Joyce, a 16-year-old rare disease advocate, shared her personal journey with the syndrome, emphasizing the importance of advocacy and the need for governmental policy change. A new film project, aiming to shed light on the realities of living with SDS and to influence regulators and drug developers, was also discussed. Two families, Erica and Cassie Thompson, and Amanda Jacobs, shared their experiences with SDS, highlighting the challenges of late diagnosis and the importance of genetic testing. The conversation ended with a discussion about the potential impact of the film project on the medical community and the SDS community. The need for various types of research needed to develop treatments for diseases were also discussed, including clinical trials, drug repurposing efforts, therapeutic gene editing, and qualitative research. Session II. The Cosmos of Research Julianne Mills (Worldwide Clinical Trials) explained the process of clinical trials, including the different phases, patient screening, and the role of regulatory agencies across countries. The presentation focused on the process of clinical trials, the importance of consent from patients and their legal representatives, and the goal of drug repurposing to save time and money while maintaining patient safety. Dr. Eszter Hars highlighted ClinicalTrials.gov as a resource for finding relevant clinical trials for Shwachman-Diamond Syndrome and associated symptoms. Drug Repurposing and AI. Dr. Feigenbaum shared his personal story of battling Castleman's disease and his subsequent discovery of an MTOR inhibitor that has kept his disease in remission for over 10 years. He co-founded EveryCure, a company aiming to unlock the full potential of FDA-approved drugs to treat various diseases and patients. He discussed the development of next-generation artificial intelligence technologies that have enabled the scaling of drug and disease analysis. Dr. Bauer, a principal investigator and staff physician at Dana-Farber and Boston Children's Cancer and Blood Disorder Center, discussed his work on gene therapy for Schwachman-Diamond Syndrome and the potential of genome editing technologies, specifically focusing on the use of engineered CRISPR systems. Dr. Vanessa Merker, a qualitative research expert, discussed the importance of qualitative research in understanding human experiences and behaviors, particularly in complex or new subjects. She emphasized the role of the FDA's Patient Focused Drug Development program in learning from this approach. Understanding Cancer and Rare Diseases through Natural History Studies. Dr. Sharon Savage from the Clinical Genetics branch at the National Cancer Institute discussed the importance of understanding the causes of cancer, particularly in the context of rare diseases. She explained the concept of a natural history study and its application to rare cancer-prone disorders. She also discussed the inherited bone marrow failure syndrome study, which aims to understand the spectrum of complications associated with these syndromes. She highlighted the history and evolution of understanding Dyskeratosis Congenita, a genetic disorder, and the importance of long-term follow-up studies in understanding the risks of cancer in patients with TBDS. Session III: SDS Alliance Collaborations for Impact Shwachman-Diamond Syndrome Developments and Research. Eszter discussed recent developments related to Shwachman-Diamond Syndrome (SDS), including a new collaboration with a tech company, the implementation of an ICD-10 code for SDS in the US, and efforts for newborn screening programs. Representatives from the Broad Institute presented on the Rare Genomes Project for genetic testing and the Genetic Prevalence Study to estimate SDS prevalence. The SDS Alliance team introduced the SDS Patient Lens Study to understand patient experiences and the SDS GPS Program (Global Patient Survey and Collaboration Program) for data collection. She also mentioned the Genome Connect patient registry, the SDS GPS program results, and upcoming events like SDS Action Week and a video on sibling research. Dr. Eszter Hars discussed the challenges in developing a humanized mouse model for SDS, a genetic disorder, and the ongoing strategies to overcome these challenges. She also provided a refresher on molecular biology, focusing on DNA, RNA, and the process of splicing. Dr. Steve Murray discussed the Jackson Laboratory's efforts to engineer a mouse model for Shwachman-Diamond syndrome (SDS) that accurately reflects the disease's key features. He highlighted the lab's expertise in creating sophisticated mouse models and their capabilities for systematic phenotypic characterization. He provided an update on the ongoing work and future plans. Dr. Eszter Hars introduced a second mouse model collaboration with a new technology based on iPSCs. Next, she focused on the SDS Alliance's strategy to contribute towards data and data infrastructure, and the importance of identifying and diagnosing patients accurately, particularly in the context of newborn screening. She also highlighted the organization's efforts to make genetic testing more accessible for patients and introduced the topic of variants of unknown significance (VUS) in genetic testing. Melanie O'Leary, a principal clinical genomics specialist at the Broad Institute at MIT and Harvard, then explained the Rare Genomes Project, a free and remote research-based program that performs whole genome sequencing to identify the genetic cause of rare diseases, including SDS. Genetic Prevalence of EFL1. Katie Russell of the Broad Institute of MIT and Harvard discussed a genetic prevalence study on the EFL1 gene related to SDS, detailing the methodology and introducing a tool called Genie for estimating prevalence. She also mentioned a project identifying pathogenic variants and returning results to the SDS Alliance. Ashley Thompson (Genetics Project Manager, SDS Alliance) and Grace Lynch (genetic counseling student at MGH) introduced the SDS Patient LENS Study, a collaboration with Harvard/MGH to explore SDS patients' experiences and needs, involving interviews with affected individuals or caregivers. Some more details about the topics discussed: Eszter discussed the potential of Shwachman-Diamond Syndrome (SDS) as a model rare disease for drug development and the need to de-risk drug development. She announced plans to host an externally led patient-focused drug development meeting (EL-PFDD meeting) to help the FDA and product developers to gather patient perspectives on their condition and available therapies. Joyce, a 16-year-old rare disease advocate, shared her personal journey with SDS and her advocacy work, emphasizing the importance of advocacy in raising awareness about the lives of rare disease patients. Joyce also discussed her efforts to create a governmental official awareness day for SDS and her work on three bills aimed at improving access to care and streamlining insurance processes. Raising Awareness for SDS Through Film Eszter introduced a film project aimed at raising awareness about Shwachman-Diamond Syndrome (SDS) and its impact on families. The film, directed by Levi Gershkovich, features families sharing their personal stories. The trailer was premiered at the meeting! Followed by a discussion with two participating families. Erica Thompson and Cassie Thompson shared their son Elijah's late SDS diagnosis, highlighting the need for earlier genetic testing. Amanda Jacobs discussed her daughter Addison's SDS diagnosis at nine months old, her severe symptoms, and the treatment she received at Children's Hospital of Philadelphia. Amanda shared her daughter Addison's medical journey, including successful treatment for a p53 mutation through a clinical trial using the chemotherapy drug Treosulfan . Erika, Kassi, and Amanda discussed the challenges of living with undiagnosed Shwachman-Diamond syndrome (SDS), emphasizing the need for early detection and better support. Kassi highlighted the importance of raising awareness and finding new treatments for SDS. Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post :

In this issue: SDS Alliance brings the patient voice to two scientific conferences this month. One focused on inherited bone marrow failure syndromes and the other on congenital neutropenias, both disease categories covering Shwachman-Diamond Syndrome. Here we provide a brief overview of these two informative conferences that spark new collaborations. Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email genetics@SDSAlliance.org or message us on Facebook! This is all for you! ESH-EBMT-EHA-IPIG 3rd Translational Research Conference BONE MARROW FAILURE AND LEUKAEMIA PREDISPOSITION SYNDROMES This month, international bone marrow failure and leukemia predisposition syndrome experts gathered in Paris for the biannual ESH-EBMT-EHA-IPIG 3rd Translational Research Conference BONE MARROW FAILURE AND LEUKAEMIA PREDISPOSITION SYNDROMES to discuss advances in the field and opportunities for progress. Dr. Hars from the SDS Alliance had the opportunity to catch up on the latest science and leading experts, many on the SDS Alliance Scientific and Medical Advisory Board . Presentation Highlights Relevant to Shwachman-Diamond Syndrome Dr. Coleman Lindsley (Boston) shared an overview of the role of CHIP in allogeneic stem cell transplant and bone marrow failure, along with other international researchers covering other aspects of stem cell biology and leading to a insightful discussion. Dr. Lisa McReynolds (NCI, Bethesda, MD, USA) highlighted genome first approaches to uncovering leukemia etiology, complementing insights into inherited predisposition to leukemia. Dr. Alan Warren (Cambridge, UK) provided an overview of his work on Shwachman-Diamond Syndrome and the molecular interplay of clonal evolution in ribosomal disorders and inspired a lively discussion on the session topic. The full program is available here . Connecting with Shwachman-Diamond Syndrome Key Opinion Leaders We had the opportunity to catch up with the wonderful SDS experts and key opinion leaders above, as well as with Dr. Kas Myers (Cincinnati, OH, US) regarding the North American SDS Registry's work and plans for the coming year, new opportunities to collaborate with St. Jude under Dr. Marcin Wlodarski (St. Jude, Memphis, TN, US) leadership, the work of the Inherited Bone Marrow Failure Study at the NCI (NIH) under the leadership of Dr. Sharon Savage (Bethesda, MD, US) , and an exciting new startup company looking to develop new treatment options for p53 driven AML (leukemia, blood cancer). SDS Alliance shares abstract to highlight resources The Shwachman-Diamond Alliance submitted an abstract to this conference which was accepted and published in the conference book, titled: FROM CHALLENGE TO OPPORTUNITY: HOW SHWACHMAN-DIAMOND SYNDROME BECAME READY FOR TRANSLATION AND A PROMISING TARGET FOR THERAPY DEVELOPMENT, AND THE ROLE OF PATIENT ADVOCACY The objectives of this landscape analysis and strategic plan are to determine what the challenges are to advance therapy development for Shwachman Diamond Syndrome, and how to overcome them to create new opportunities to improve patient lives. Shwachman-Diamond Syndrome Alliance is a nonprofit research-focused patient advocacy organization that drives and accelerates therapy development focused on eliminating the leukemia risk posed by SDS. As part of this work, we surveyed the SDS research and community landscape to identify roadblocks to therapy development and developed tools and strategies to overcome them. This has led to the creation of several strategic programs. Our work can be categorized into four categories: model system development, regulatory engagement, patient community development, and data generation and access. Specifically, in our abstract we shared updates on: Mouse Model System Development: We have successfully launched multiple projects to develop a functioning mouse model for SDS. The first type of model humanized the SBDS gene. Surprisingly, this turned out to be embryonic lethal. Currently, we are working with Jackson Laboratory to test multiple strategies to overcome the embryonic lethality. We are also working on iPSCs engraftment murine models with a collaborator. More details coming soon. US ICD-10 code for Shwachman-Diamond Syndrome . We have successfully advocated for the code, and continue its promotion. The code has now been applied to over 515 patients in the US since its implementation a year ago. We have created a global patient survey platform (global patient registry) to capture the lived experience of patients and caregivers as reported by them, amplify their voice and inform translational and therapy development work, and serve to connect patients with relevant clinical research and trials (recruitment support). It is IRB approved, GDPR compliant, with proper consenting workflows in place. Our pilot cohort demonstrated feasibility and it is now fully launched in 5 languages. We look forward to creating new collaborations with the translational research community. The other wonderful meeting we had the great pleasure to attend was the: 5th National Neutropenia Day: Sharing the experience and providing better care This is a meeting conducted by the French Neutropenia Registry by Dr. Jean Donadieu and Blandine Beaupain, every year or two, with a day for physicians and researchers, and a day for patients and all interested parties. Part 1 focused on an overview and update from the French Neutropenia Registry by B. Beaupain (Reference Center - APHP Trousseau, Paris). Part 2 focused on clinical / therapeutic trials in neutropenia: alternatives to GCSF and bone marrow transplantation Mavorixafor in WHIM syndrome and chronic neutropenia J. Donadieu (Reference Center - APHP Trousseau, Paris) HPV viromes and plerixafor C. Deback, (Université Paris Saclay) iSGLT2: for G6PC3 and GSDIb neutropenia: French cohort and literature data J. Donadieu (Reference Center - APHP Trousseau, Paris) Elamipretide in Barth syndrome E. Panaioli (APHP Necker, Paris) Biological news on LGL leukemia C. Pastoret (Hôpital Pontchaillou, Rennes) Part 3 focused on the genetic and functional aspects Contribution of exome and genome sequencing in the diagnosis of neutropenia S. Marti (APHP Pitié Salpêtrière, Paris) ADA2: clinical aspect, functional aspect I. Meyts (Leuven University Center) WHIM: Role of inflammaging in anti-infectious and vaccine responses C. Moulin (APHP Saint Louis, Paris) GATA2 deficiency: from somatic mutations to the indication of transplantation M. Pasquet, L. Largeaud, (Toulouse CHU and Oncopole), F. Sicre de Fontbrune (APHP St Louis, Paris) Functional aspects of Signal Recognition Protein anomalies L. Durix (Institut Gustave Roussy, Villejuif) Day 2, morning session focused on questions and answers, and a short introduction and discussion with the audience Generalities: the Reference Center, the registry and the PNDS: a structure for 30 diseases: what's new? J. Donadieu & B. Beaupain (Reference Center - APHP Trousseau, Paris) Organization of diagnostic opinions in France: Multidisciplinary Consultation Meetings or how to offer relevant opinions for diagnosis and care J. Donadieu & B. Beaupain (Reference Center - APHP Trousseau, Paris) Organization of myeloid monitoring: common use of myeloid NGS for monitoring leukemia risk P. Hirsch (APHP Pitié-Salpêtrière, Paris) Improving oral dental care M. Biosse-Duplan (APHP Bretonneau) Alternative to GCSF: example of G6PC3 neutropenia and Glycogenosis Ib J. Donadieu (Reference Center - APHP Trousseau, Paris) The afternoon was dedicated to breakout/ DISCUSSION GROUPS: feedback and questions Shwachman syndrome : various questions A. Trognon (CLINICOG, Nancy) Chronic neutropenia: managing daily life in adults and children: treatment, transplant and follow-up / Various questions F. Sicre (APHP St Louis), N. Aladjidi (CHU Bordeaux) Barth syndrome: Elamipretide: interest, perspective of care and management in the daily life of patients The discussions in the SDS breakout room were heavily focused on the challenges adult SDS patients face when pursuing an education and career. In France, it can be very difficult to advocate for flexible schedules and other accommodations. Dr. Hars contributed an US perspective. Dr. Donadieu emphasized how very important family support is for SDS patient's success at all stages of life. Dr. Hars prepared a presentation about the SDS-GPS program (in French!) but decided to share the recording after the meeting as to not interrupt the lively discussions. After the meeting, Dr. Donadieu and Blandine Beaupain offered a tour through the registry. They have an impressive amount of well organized records. The French Neutropenia registry is a role model in consistent, high quality data, along with a high enrollment rate. Blandine travels to various hospitals around France to collect the records and enter them into the system. Genetic and other testing are performed in a central lab, ensuring high quality and consistency. Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post :

In this issue: Simple Fundraising Ideas to Support SDS Research and Make a Lasting Impact in the Fight for a Cure Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email genetics@SDSAlliance.org or message us on Facebook! This is all for you! DIY Fundraising for Shwachman-Diamond Syndrome: How You Can Fuel Research and Hope for the SDS Community! For rare diseases like Shwachman-Diamond Syndrome (SDS), the funding landscape is often difficult. While grants and corporate donations support some research, they are rarely enough to address the breadth of medical questions researchers have. Patient-led fundraising is often a lifeline for progress, directly enabling more research, clinical trials, and potential breakthroughs. With Giving Tuesday a little less than one month away on December 3, 2024, our team at SDS Alliance invites you to participate in DIY fundraising , so our community can help bridge the funding gap, fueling the search for new treatments and bringing hope to families affected by SDS. Here's how you can start your own fundraising journey, get your community involved, and make a lasting impact for everyone affected by SDS. You don’t have to be a professional fundraiser to make a big impact! Here are some simple, community-centered ways to raise funds for the SDS Alliance: 1. Host a Neighborhood Yard Sale Gather items you no longer need and invite neighbors to join. Yard sales are great ways to declutter and raise money while involving the entire community. Have informational signs available that explain what SDS is and the importance of your fundraising efforts. 2. Cook-Off or Bake Sale Food brings people together! A cook-off or bake sale can be a fun way to get the community involved. Ask local bakeries or restaurants to donate goods, or have friends and family contribute their best recipes. Use this opportunity to set up an information booth where people can learn about SDS and your fundraising goals. 3. Birthday Fundraisers on Social Media Instead of traditional gifts, request donations to your fundraising page in honor of your birthday. Platforms like Facebook allow you to easily set up a fundraiser, which makes it simple for friends and family to contribute directly to the cause. This also offers a great platform to share why SDS research is so close to your heart. 4. Host an Online Auction or Raffle An online auction or raffle allows people near and far to support your fundraising efforts. Reach out to local businesses or artisans who may be willing to donate products or services for the cause. Not only does this raise funds, but it also raises awareness among those who may not yet know about SDS. 5. Create Your Own Fundraiser Have your own fundraising idea? Let your creativity shine and host a DIY fundraiser that is most fun for you and shows off your passion and skill sets. Whether you decide to host a game night or wine-tasting event, the sky is the limit when it comes to hosting your own DIY fundraiser.  Sharing Your Story: The Heart of Fundraising The most powerful aspect of DIY fundraising is the ability to share your personal connection to SDS. Whether you're a patient, a family member, or a friend of someone with SDS, sharing your unique story helps people understand why supporting the SDS Alliance is so vital and important to you. When people see the faces and hear the stories of those affected by SDS, they’re more likely to connect with the cause on a personal level. The reality of living with SDS is not widely understood, so every story shared brings us one step closer to building a supportive and informed community that cares about rare disease research. By sharing your journey, you not only inspire others to donate but also help raise awareness for Shwachman-Diamond Syndrome on a larger scale.  Your Impact Every dollar raised by DIY fundraisers goes directly toward initiatives like: Accelerating Research:  More funds mean more projects dedicated to understanding SDS and developing tools for research, which is crucial for developing new treatments and, someday, a cure. Clinical Trials:  Funding enables developing ideas into clinical trials, giving patients the opportunity to participate in potential new treatments. Support for Families:  The SDS Alliance provides resources and guidance for families navigating this challenging condition. Your support helps them extend these services. Together, through DIY fundraising, sharing your story, and involving your community, you are paving the way toward a brighter future for everyone affected by SDS. Ready to make a difference? Start your DIY fundraising journey today ! Every effort counts, and together, we can create a lasting impact in the fight for a cure for SDS. For more information, visit: https://www.sdsalliance.org/fundraise .  Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post :

In this issue: Why Individuals with SDS Face a Higher Risk of Diabetes and How Families Can Take Action to Support Health Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email genetics@SDSAlliance.org or message us on Facebook! This is all for you! Understanding the Link Between Shwachman-Diamond Syndrome and Diabetes During National Diabetes Awareness Month November is National Diabetes Awareness Month in the United States  and November 14th is World Diabetes Awareness day - a time dedicated to increasing awareness about diabetes and supporting those affected by it. Incidentally, November is also Pancreatic Disease Awareness Month. This is not a co-incidence, as the cells that regulate blood sugar levels reside in the pancreas. Diabetes is one of the most common chronic diseases in the United States. According to the CDC, approximately 38 million Americans have been diagnosed with diabetes. While most people with SDS experience exocrine pancreatic insufficiency, which affects digestion, some also develop diabetes. Visit the SDS Alliance website for more information about symptoms of SDS . Types of diabetes and pancreatogenic diabetes There are several types of "diabetes". The best known include type 1 and type 2 . Different types of diabetes have different causes and mechanisms, including: Type 1 diabetes The body's immune system destroys the cells that produce insulin, resulting in little or no insulin production. This is a lifelong condition that requires constant management.  Type 2 diabetes The body may produce insulin, but the cells don't respond properly. This is the most common type of diabetes, affecting 90–95% of people with diabetes. Risk factors include genetics, being overweight, and a lack of physical activity.  Panreatogenic diabetes Chronic pancreatitis, pancreatic cancer, and genetic disorders that affect the pancreas - such as Cystic Fibrosis - can also cause diabetes. This type of diabetes is called pancreatogenic diabetes. Pancreatogenic diabetes, also known as type 3c diabetes , is a type of diabetes that occurs when the pancreas is damaged, affecting its digestive and exocrine functions. It is often mistaken for type 2, which could lead to suboptimal treatment. Diabetes and Shwachman-diamond Syndrome (SDS) Shwachman-Diamond Syndrome (SDS) is a distinct genetic condition that often affects the pancreas, too. SDS patients may be at risk for this type of diabetes due to the pancreas having structural issues. How big this risk is is subject to current research. Other types of diabetes, including type 1, have been reported in Shwachman-Diamond Syndrome as well , and seem to occur at higher frequency in SDS patients than the general population . If you have concerns, please reach out to a qualified endocrinologist. Our friends at Mission:Cure - a nonprofit focused on chronic pancreatitis - put together a comprehensive overview of pancreatogenic diabetes and hosted a webinar Dr. Belllin, an expert in the field. Watch it here: Other types of diabetes, including type 1, have been reported in Shwachman-Diamond Syndrome as well , and seem to occur at higher frequency in SDS patients than the general population . Type 1 diabetes occurs when the body's immune system mistakenly destroys the insulin-producing cells in the pancreas. In SDS patients, this condition can occur at an early age, sometimes starting in infancy or early childhood. Interestingly, researchers suggest  diabetes in SDS patients may have a milder course compared to typical cases of type 1 diabetes, and some may experience hypoglycemia (low blood sugar) rather than high blood sugar in the early stages. Scientists believe that the unique genetic changes in SDS might make these individuals more vulnerable to developing diabetes, either through problems with immune function or reduced insulin production. If you have concerns, please reach out to a qualified endocrinologist. Symptoms of diabetes to watch for According to the CDC, there are early signs of diabetes to watch for. If you have any of the following diabetes symptoms, see your doctor about getting your blood sugar tested: Urinate (pee) a lot, often at night Are very thirsty Lose weight without trying Are very hungry Have blurry vision Have numb or tingling hands or feet Feel very tired Have very dry skin Have sores that heal slowly Have more infections than usual Be proactive when it comes to diabetes If you or a family member has SDS, it’s essential to be proactive about blood sugar health, even if diabetes hasn’t been diagnosed. Regular check-ups with your doctor can help monitor blood sugar levels and catch any early signs of diabetes. Early detection is important, as it can lead to better management strategies, including lifestyle adjustments and, if needed, medications or insulin. Your healthcare provider may recommend regular blood sugar testing, particularly if any symptoms like increased thirst, frequent urination, or unexplained weight loss appear. Staying healthy with SDS and managing any potential diabetes risk involves more than just monitoring blood sugar levels. Research recommends  following a balanced diet with a focus on low-glycemic foods (foods that don’t cause rapid spikes in blood sugar) that can support steady blood sugar levels. For those who have already been diagnosed with diabetes, insulin therapy may be necessary, and some patients have found that insulin pumps help manage their blood sugar more effectively. Exercise and hydration can also make a big difference in maintaining health. National Diabetes Awareness Month is a reminder to the SDS community that early action and a proactive approach to health can make a significant difference. If you’re part of the SDS community, talk to your healthcare provider about how you can keep your blood sugar levels in a healthy range and what steps are most helpful for managing or preventing diabetes. Together, we can spread awareness and support each other in staying as healthy as possible. Talk with your doctor about making a diabetes care plan this National Diabetes Month. Managing diabetes as soon as possible after diagnosis can help prevent serious health problems. Learn more from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ! For more information and resources about living with type 1 diabetes, visit the website of Breakthrough T1D (formerly JDRF) . This website is also available in Spanish! Disclaimer:   This blog post is intended for informational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a qualified healthcare provider with any questions you may have regarding a medical condition or treatment. Never disregard professional medical advice or delay seeking it because of something you have read in this post. Do you enjoy the SDS & Science Snapshots? 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