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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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In this issue: SDS Alliance celebrated and raises awareness about Shwachman-Diamond Syndrome and inspires action in the community 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! What is Shwachman-Diamond Syndrome Global SDS Awareness Day and Action Week? Global SDS Awareness Day and Action Week  is about coming together and raising awareness as a united global patient community. ​ In 2020, the SDS Alliance reached out to all the international SDS patient organizations to discuss the idea of creating an annual Global SDS Awareness event, proposing a time in spring or fall to avoid the busy winter holiday and summer vacation seasons. Our colleagues at SDS UK proposed late April as the time to coincide with Dr. Shwachman's birthday. All organizations that responded - including SDS UK, SDS Netherlands, and SDS Foundation (US) - supported this concept and timing, and so Global SDS Awareness Week was born. ​​ ​Over the years, the event has not reached its full potential, so we set out to reconsider the date. We polled the international patient community for a new date/frame preference. You voted and we listened! ​Based on your feedback, the new date(s) are:   Global SDS Awareness Day is November 7th   and leading up to it, ​ Global SDS ACTION Week is November 1-7th Take Action to Make an Impact! Here is a list of simple actions you can take, one or two a day during Global SDS Action Week - or anytime throughout the year. Click on the list to download a PDF  with clickable links. How will you take action this year? New! Share a vocal video! We partnered with Vocal Video to bring you a super easy way to share your voice by answering a few simple questions. See an example (Eszter's video) on the SDS Alliance webpage for Awareness Week . Click here or below to share your voice, today! We will use your videos to raise awareness about SDS and to inform our programs to best support your needs! Why was November chosen for SDS Awareness?   Dr. Shwachman was a prominent gastroenterologist in Boston in the 1960s and developed deep expertise in caring for Cystic Fibrosis (CF) patients and "atypical" CF patients. This was before SDS was recognized as a distinct disorder, and many patients were categorized as "atypical CF."  Drs. Shwachman and Diamond , as well as Dr. Bodian , were instrumental in defining Shwachman-Diamond Syndrome. A landmark publication in the journal Pediatrics in 1964, entitled " The Syndrome of Pancreatic Insufficiency and Bone Marrow Dysfunction " was published by Drs. Shwachman and Diamond in November 1964. It is due to this publication that the disease received its name, "Shwachman-Diamond Syndrome". About 40 years later, Dr. Johanna Rommens and her team at SickKids in Toronto, Canada, identified the main gene responsible for SDS. The gene (and corresponding protein) was named SBDS for S hwachman- B odian- D iamond S yndrome to acknowledge Dr. Bodian's contribution to the field. Coincidentally, the SBDS gene happens to be located on section 11 or Chromosome 7, giving a nod to the date of 11.7 or November 7. ​ New SDS Awareness T-shirt Designs Now Live!   Click on the design to order.  Multiple colors and styles are available, including t-shirts, hoodies, and tank tops. International shipping is available. If you would like to have them printed locally in your country or community, email us at connect@sdsalliance.org and we will be happy to share the design file! ​ Why participate in SDS Awareness Day and Action Week? ​ It is our hope that more and more organizations and families will participate over time so that this campaign can grow and reach more families, medical providers, and researchers. We have reached out to all international SDS patient groups to invite them. ​ Raising awareness can save lives. Any diagnosis made sooner lessens the burden and suffering of the diagnostic odyssey, and life-saving interventions can begin sooner. The SDS community can grow to support more targeted research, accelerating the pace toward therapies and cures. ​ SDS Story Series Huge thanks to all the SDS families from around the world for sharing their stories!   The stories are available on the SDS Alliance social media channels: SDS Alliance Website blog (Patient Stories) SDS Alliance Facebook page The Role of SDS Alliance We at the   SDS Alliance  are not only passionate to raise awareness about SDS, patient's unmet needs, and our drive for progress, but we are equally if not more passionate about creating opportunities for YOU to make a difference. The Action Checklist on top of this post is an easy way for you to get started and take action that matters. Together, we can move mountains. We created many resources to set you up for success. Check out the media section of our website for free downloads. Why Community Matters Being part of a community provides emotional support and access to the latest research and treatment options. SDS Alliance advocates for awareness, research funding, and educational resources that can greatly enhance the quality of life for those affected by SDS. Conclusion Shwachman-Diamond Syndrome is a complex genetic disorder that requires coordinate care, caring community support, and strategic investment into research and research infrastructure to de-risk therapy development. Organizations like Shwachman-Diamond Syndrome Alliance (SDS Alliance) play a crucial role in providing support and resources for those affected and the SDS community at large. Join us and raise awareness to help others learn about this important condition. For more information, visit   SDS Alliance  and join a community dedicated to improving the lives of those impacted by Shwachman-Diamond Syndrome. Do you enjoy the SDS & Science Snapshots? 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In this issue: The SDS Alliance team is energized and ready for Global SDS Awareness Day and Action Week! A recap of the annual CZI Science in Society Meeting. 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! SDS Alliance is Energized by the Annual CZI Science in Society Meeting With yesterday’s launch of Global Shwachman-Diamond Syndrome (SDS) Awareness Day and Action Week (1-7 November) , our team at SDS Alliance is reflecting on our recent experience at the invitation-only Annual Science in Society (SiS) Meeting hosted by the Chan Zuckerberg Initiative (CZI) which brought together the CZI Rare As One (RAO)  network, a passionate community of rare disease patients and caregivers, patient advocacy group leaders, scientists, clinicians, and policymakers, committed to advancing rare disease research and improving patient outcomes. The SDS Alliance was Awarded a transformational Chan Zuckerberg Initiative “Rare As One” Grant in 2021, as part of cycle 2. The first full meeting day (16 October 2024) themed, “Accelerating Rare Disease Diagnosis,” was focused on shortening the diagnostic journey that many families face. Currently, it can take six years or more for patients with rare diseases to receive an accurate diagnosis . Experts and leaders from across the rare disease community challenged each other to envision cutting this time to just six weeks within the next six years. Discussions included emerging tools like artificial intelligence (AI) that could support real-time diagnostics, ways to better understand variants of uncertain significance, and policies to make diagnostic resources widely accessible. For the SDS Alliance team, attending this meeting was energizing, reaffirming the importance of equitable diagnostic access and showing promise for a future where SDS patients may face fewer hurdles on their diagnostic journeys. The second meeting day (17 October 2024), centered on “Data Integration for Disease Characterization” and “Impact,” brought attention to the incredible potential of patient data to propel rare disease research forward. Speakers presented innovative registries and platforms for collecting data that can characterize diseases in greater detail and support the development of new treatments. A big focus was also on making data gathering accessible and patient-centered, envisioning technologies like wearables to track health in real-time. This session was particularly insightful for the SDS Alliance team in light of our recent launch of the SDS Global Patient Survey and Collaboration Program: SDS-GPS ( learn more about the GPS Program and how to make your voice count here! ). Finally, leaders from patient-driven organizations shared successes and discussed novel funding models to advance research, offering a roadmap for how patient communities, like those affected by SDS, can contribute to and benefit from advancements in rare disease research and treatment development.  Not only did the CZI SiS meeting provide the opportunity for SDS Alliance team members  Ashley Ferreira (pictured on the right below) and myself (Ashley Thompson, as seen on the left) to meet in person for the first time, but it also underscored that meaningful progress for advancing diagnostics and therapeutics for the SDS community is within reach, giving SDS Alliance new ideas and a renewed sense of purpose in our advocacy and research efforts. This was the first CZI SiS meeting Ashley Ferreira had the opportunity to attend in-person. She was kind enough to write up and share her thoughts and reflections about attending this meeting and engaging with the RAO network below. Attending the 2024 CZI SiS Meeting was an inspiring opportunity that deepened my understanding of the intersection of AI, healthcare, and research. The atmosphere was electric, filled with innovators and thought leaders passionate about harnessing technology for the benefit of our rare disease communities. There were various sessions that offered valuable insights into how AI is transforming the landscape of healthcare, from pre-clinical research to personalized patient care. One of the highlights was the discussion on AI-driven predictive analytics in patient care. Experts shared case studies demonstrating how machine learning models can analyze vast datasets to identify at-risk patients before issues arise, ultimately leading to better health outcomes. The emphasis on collaboration between data scientists and medical professionals underscored the importance of interdisciplinary approaches in developing effective AI tools.  Panelists also engaged in meaningful dialogue about ensuring that systems are equitable and transparent, highlighting the need for diverse datasets to advance research in rare disease communities effectively. By leveraging advanced algorithms and machine learning, researchers can now analyze vast amounts of genetic, clinical, and demographic data more efficiently than ever before. This capability allows for the identification of patterns and potential biomarkers that were previously difficult to discern, accelerating the discovery of effective treatments. Additionally, AI-powered tools facilitate the management of patient registries, enabling more accurate tracking of patient outcomes and experiences. This holistic approach not only fosters collaboration among researchers but also empowers patients and advocates to contribute to the knowledge base, ultimately driving progress in understanding and treating rare diseases. 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: The results of the 2024 Million Steps Closer to #CureSDS Challenges are in 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! Shwachman-Diamond Syndrome community and impact with the 2024 Million Steps Closer to #CureSDS fundraiser The Event for You, Your Friends, Family, and Colleagues to Have Fun and Support Research.   The Million Steps Closer to #CureSDS annual fundraiser took place October 25-31, 2024. Anywhere (Virtual or Local if You Choose). Shwachman-Diamond Syndrome is global. ​ This year, we hosted the 5th annual "Million Steps Closer" fun-run challenge fundraiser, a virtual event every October. Participants turned hope into action and took steps to #CureSDS - we could walk, run, crawl, roll, swim, or lean back and support those who do by making a donation.  The steps (and fitness) counting challenges were managed through a free app and are optional. The Purpose: To Support Research!​​​   This fundraiser is a fun and uplifting way to join us and make a difference. As always, 100% of funds raised from the community go to SDS research and infrastructure to accelerate therapy development, following our  roadmap . By participating in this event, you are playing an integral part in driving progress! Roadmap Teams Amplify Impact! ​ Participants invite family, friends, neighbors, colleagues, or classmates to participate! Registration is free! It's easily invite others to join in your fundraising efforts! Get in the spirit for next year! Overall community goal: A million steps or more! This year, once again, we had a small but committed and dedicates community step up to the challenge. 4 teams and 17 participants took an impressive total of 1,004,878 steps together Thank you everyone who stepped up and had fun with us, while meeting critical fundraising goals for research! See you again next year! And the 2024 Challenge Winners are: Laszlo H : Most Steps taken as an individual: 94,709 steps Team Joyce : Most Steps taken as a team: 353,933 steps Team Declan : Most Funds Raised as a team: $13,864 with this fundraiser and a charity hockey game in the spring. Community and Fundraising This event is impactful for both coming together as a community that can support each other, and also as a powerful driving force for research funding. The SDS Alliance is proud to host this event every year. These themes are also carried forward in the inaugural   Global SDS Awareness Day is November 7th   and leading up to it, ​ Global SDS ACTION Week is November 1-7th campaigns. Take Action to Make an Impact! Here is a list of simple actions you can take, one or two a day during Global SDS Action Week - or anytime throughout the year. Click on the list to download a PDF  with clickable links. How will you take action this year? The Role of SDS Alliance We at the   SDS Alliance  are not only passionate to raise awareness about SDS, patient's unmet needs, and our drive for progress, but we are equally if not more passionate about creating opportunities for YOU to make a difference. Conclusion Shwachman-Diamond Syndrome is a complex genetic disorder that requires coordinate care, caring community support, and strategic investment into research and research infrastructure to de-risk therapy development. Organizations like Shwachman-Diamond Syndrome Alliance (SDS Alliance) play a crucial role in providing support and resources for those affected and the SDS community at large. Join us and raise awareness to help others learn about this important condition. For more information, visit   SDS Alliance  and join a community dedicated to improving the lives of those impacted by Shwachman-Diamond Syndrome. 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: Advocacy Impact: Shwachman-Diamond Syndrome and the community's ideas were part of last week's kick-off meeting of FDA’s Rare Disease Innovation Hub 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! Shwachman-Diamond Syndrome Alliance (SDS Alliance) shares ideas at new FDA Rare Disease Innovation Hub kick-off Meeting. FDA leaders launch rare disease hub to increase cross-center collaboration. It was an incredible opportunity for the SDS Alliance to represent the SDS community at the FDA for the public kick-off meeting of the new Rare Disease Innovation Hub!  Advocacy with Impact. Thank you to the  Reagan-Udall Foundation for the FDA  for organizing the meeting and making it possible for many rare disease organizations and advocates to be heard. The day was filled with insights from passionate stakeholders, advocates, and members of the rare disease community. FDA officials, including the directors of CBER and CDER, launched a rare disease innovation hub at a public meeting on October 16, 2024, aiming to enhance collaboration and communication across the two centers and externally, to serve as a single point of entry to engage with FDA, and to streamline and accelerate therapy development for rare diseases. The meeting was organized by the Reagan-Udall Foundation for the FDA . The Reagan-Udall Foundation for the FDA, in collaboration with FDA’s Rare Disease Innovation Hub, hosted a public meeting on October 16, 2024. The meeting brought together rare disease patient advocates, academic researchers, regulated industry, and other key stakeholders to discuss how the recently announced Rare Disease Innovation Hub can best engage with members of the rare disease community and prioritize its work. During this public meeting, FDA sought to gather public comment in the following areas: Cross-cutting rare disease-related, scientific, regulatory, or policy issues (those not related to a particular disease or condition) that should be prioritized for consideration by the Rare Disease Innovation Hub Rare disease-specific (but not application-specific) scientific, regulatory, or policy issues that should be prioritized for consideration by the Rare Disease Innovation Hub Rare disease-related activities or initiatives currently being undertaken independently by CDER or CBER that you believe would benefit from being undertaken by the Rare Disease Innovation Hub as a joint activity Approaches that the Rare Disease Innovation Hub should follow for engagement with patients and caregiver groups, industry organizations, and scientific/academic organizations In addition to the presentations during the hybrid meeting, comments can be submitted to the docket by October 31st as described in the Federal Register Notice . The full meeting recording is now available on the meeting page and on YouTube, here: Endpoints News summarizes the event in their recent article : The hub will work across different rare diseases, the vast majority of which do not have any treatment. The FDA said it will “particularly focus on products intended for smaller populations” or for diseases in which the natural history is not well understood. The hub “will bring us the coordination between the centers that I think will really make sure that things like biomarkers are coordinated,” Marks said in his introductory remarks. He added that CDER and CBER reporting structures won’t be disrupted but there will be more collaboration. CDER Director Patrizia Cavazzoni highlighted that this meeting already demonstrates how the hub “will turbo-charge our activities across centers. We really want to listen.” At the same time, they emphasized that they are in startup mode. Dynamic, strategic, AND still looking for a director to lead the effort. “There will be differences between gene therapies and protein therapeutics and small molecules,” Marks said. “That may mean that sometimes an endpoint or policy may have to be different, but again, we’re committed to being transparent about this.” The remainder of the meeting included 41 speakers — from patient groups to industry — including Shwachman-Diamond Syndrome Alliance's President and CEO Dr. Eszter Hars , discussing everything from the rare diseases of their children to ways that the FDA can be more nimble. The agency said it received more than 200 requests to participate in the meeting. Some speakers sought improved consistencies across the FDA drug and biologic centers, citing the need to establish regular and transparent lines of communication with sponsors. Others requested a roadmap for the hub’s short and long-term goals. Comments on the docket are still open, according to the FDA. Dr. Hars highlighted the need of the SDS and many other rare disease communities to collaborate with the FDA, researchers, and other stakeholders to support the development of biomarkers and outcome measures, which could support the development of new therapies using different modalities and could accelerate the work and impact across multiple agencies. More about the Rare Disease Innovation Hub from the meeting organizers and its impact on SDS Alliance's mission "An estimated 10,000+ rare diseases affect more than 30 million people – approximately one out of every 10 people – in the United States, and about half of these people are children. While there have been important advances in treatments for rare diseases, more needs to be done. Many rare diseases lack treatment options and therefore many patients have high unmet medical needs. This requires new approaches to expedite development and approval of safe and effective drugs and biologics. The FDA sees huge potential in establishing a new model, within the FDA, to leverage cross-agency expertise and greatly enhance our inter-center connectivity to spur the development of treatments for rare diseases. To that end, the Center for Biologics Evaluation and Research (CBER) and the Center for Drug Evaluation and Research (CDER) are launching a Rare Disease Innovation Hub to advance rare disease therapy development through greater communication, collaboration, and coordination across CBER and CDER, in coordination with other Centers and Offices across FDA. Helmed by senior leadership from CBER and CDER, the Hub will work to develop and implement a comprehensive cross-center rare disease strategic agenda that takes full advantage of our current clinical and scientific expertise across both centers and is based on a shared vision and comprehensive approach to 1) align methods and approaches to rare disease programs, both during IND development, and in application review; 2) identify and enable innovative approaches in the areas of novel endpoints, biomarker development, and innovative trial designs; and 3) streamline communications with the rare disease community. The Hub will work across rare diseases but will especially focus on products intended for smaller populations or for diseases where the natural history is variable and not fully understood, as we recognize that development of therapies for these conditions can be particularly challenging." This gives us at the SDS Alliance reasons for hope and momentum to implement our strategies to no only make therapy development possible, but fast and likely. The Role of SDS Alliance Organizations like   SDS Alliance  provide vital support for individuals and families affected by Shwachman-Diamond Syndrome, in particular offering access to information on the latest research and foundational understanding of the basics of research participation. They offer resources, connect patients with medical experts and researcher, and foster a community where individuals can share experiences and information and turn hope into action, together. Why Community Matters Being part of a community provides emotional support and access to the latest research and treatment options. SDS Alliance advocates for awareness, research funding, and educational resources that can greatly enhance the quality of life for those affected by SDS. Conclusion Shwachman-Diamond Syndrome is a complex genetic disorder that requires coordinate care, caring community support, and strategic investment into research and research infrastructure to de-risk therapy development. Organizations like Shwachman-Diamond Syndrome Alliance (SDS Alliance) play a crucial role in providing support and resources for those affected and the SDS community at large. Join us and raise awareness to help others learn about this important condition. For more information, visit   SDS Alliance  and join a community dedicated to improving the lives of those impacted by Shwachman-Diamond Syndrome. 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 does diversity in rare disease research matter? (¡También disponible en español!) 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! Embracing Diversity in SDS: Reflecting on Hispanic Heritage Month Every year, from September 15 to October 15, we celebrate Hispanic Heritage Month in the United States. It’s a time to recognize the histories, cultures, and contributions of Hispanic and Latino Americans. But beyond the celebration, it’s also a chance to reflect on how important it is for everyone, no matter their background, to be included in healthcare and research. At SDS Alliance, we recognize that our community is diverse , and we are committed to engaging with our global community to accelerate progress towards improved treatments and outcomes with SDS across the world. That is why we made the investment to offer the SDS-GPS program in five languages, including Spanish. Join today! Rare diseases, like Shwachman-Diamond Syndrome (SDS), affect a small number of people, which means that global efforts to involve individuals from diverse backgrounds in research and awareness are critical. Cases of SDS have been reported in individuals with Hispanic heritage, including one 14-year-old female  and a 3-year-old male . Many families from diverse backgrounds who are affected by rare diseases like SDS may not have the same access to healthcare or opportunities to participate in research as others. Language barriers, lack of resources, and cultural differences can create challenges. That’s why Hispanic Heritage Month is a perfect time to focus on ensuring that the Hispanic community is included and supported in rare disease research.  For families dealing with SDS, participating in research can help improve the understanding of this condition and lead to better treatments and care. It’s important to know that research studies need input from all backgrounds to get a complete picture of how rare diseases affect people differently. A perfect example of the importance of including individuals from diverse backgrounds in clinical research includes this case series , which is one of the first to describe the EFL1 gene, a rare gene known to cause an SDS-like condition, in multiple individuals from various diverse backgrounds including two siblings with Mexican ancestry. This is why it’s crucial to raise awareness about the importance of diversity in rare disease research, so that everyone—no matter their ethnicity—can benefit from advances in medical care. At Shwachman-Diamond Syndrome Alliance, we recognize that our community is diverse, encompassing individuals of various racial, ethnic, and cultural backgrounds from around the world, and we believe that everyone's voice deserves to be heard. Hispanic Heritage Month reminds us that every culture and community brings value to the conversation, and by actively working together and engaging with our diverse global community, SDS Alliance aims to accelerate progress toward improved treatments and outcomes for individuals with SDS across the world. Together, let's continue to champion diversity and inclusivity in clinical research, ensuring that everyone has access to equitable and effective healthcare. The website for the National Organization for Rare Diseases (NORD) is available in Spanish  and so are many of their resources! Check out the EveryLife Foundation for Rare Diseases Rare Diversity Hub  for information about current efforts to increase diversity in clinical research and learn how you can get involved! En este número: ¿Por qué es importante la diversidad en la investigación de enfermedades raras? Abrazando la diversidad en SDS: Reflexionando sobre el Mes de la Herencia Hispana Cada año, del 15 de septiembre al 15 de octubre, celebramos el Mes de la Herencia Hispana en Estados Unidos. Es un momento para reconocer las historias, culturas y contribuciones de los hispanos y latinoamericanos. Pero más allá de la celebración, también es una oportunidad para reflexionar sobre lo importante que es para todos, sin importar su origen, estar incluidos en la atención sanitaria y la investigación.   En SDS Alliance, reconocemos que nuestra comunidad es diversa  y estamos comprometidos a colaborar con nuestra comunidad global para acelerar el progreso hacia mejores tratamientos y resultados con SDS en todo el mundo. Por eso hicimos la inversión para ofrecer el programa SDS-GPS en cinco idiomas, incluido el español. ¡Únete hoy! Las enfermedades raras, como el síndrome de Shwachman-Diamond (SDS), afectan a un pequeño número de personas, lo que significa que los esfuerzos globales para involucrar a personas de diversos orígenes en la investigación y la concientización son fundamentales. Se han informado casos de SDS en personas de ascendencia hispana, incluida una niña de 14 años  y un niño de 3 años . Es posible que muchas familias de diversos orígenes que se ven afectadas por enfermedades raras como el SDS no tengan el mismo acceso a la atención médica ni las mismas oportunidades para participar en investigaciones que otras. Las barreras lingüísticas, la falta de recursos y las diferencias culturales pueden crear desafíos. Es por eso que el Mes de la Herencia Hispana es un momento perfecto para centrarse en garantizar que la comunidad hispana sea incluida y apoyada en la investigación de enfermedades raras. Para las familias que padecen SDS, participar en la investigación puede ayudar a mejorar la comprensión de esta afección y conducir a mejores tratamientos y atención. Es importante saber que los estudios de investigación necesitan aportaciones de todos los orígenes para obtener una imagen completa de cómo las enfermedades raras afectan a las personas de manera diferente. Un ejemplo perfecto de la importancia de incluir personas de diversos orígenes en la investigación clínica incluye esta serie de casos , que es una de las primeras en describir el gen EFL1, un gen raro que se sabe que causa una afección similar al SDS, en múltiples personas de diversas procedencias. orígenes que incluyen dos hermanos con ascendencia mexicana. Por eso es crucial crear conciencia sobre la importancia de la diversidad en la investigación de enfermedades raras, para que todos, sin importar su origen étnico, puedan beneficiarse de los avances en la atención médica.  En la Alianza del Síndrome de Shwachman-Diamond, reconocemos que nuestra comunidad es diversa y abarca personas de diversos orígenes raciales, étnicos y culturales de todo el mundo, y creemos que la voz de todos merece ser escuchada. El Mes de la Herencia Hispana nos recuerda que cada cultura y comunidad aporta valor a la conversación y, al trabajar juntos e interactuar activamente con nuestra diversa comunidad global, la SDS Alliance tiene como objetivo acelerar el progreso hacia mejores tratamientos y resultados para las personas con SDS en todo el mundo. Juntos, sigamos defendiendo la diversidad y la inclusión en la investigación clínica, garantizando que todos tengan acceso a una atención sanitaria equitativa y eficaz. ¡El sitio web de la Organización Nacional de Enfermedades Raras (NORD)  está disponible en español y también lo están muchos de sus recursos! Consulte el Centro de Diversidad Rara de la Fundación EveryLife  para Enfermedades Raras para obtener información sobre los esfuerzos actuales para aumentar la diversidad en la investigación clínica y aprenda cómo puede participar. 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: Understanding genetic variants and what these DNA changes mean! 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! How To Interpret Genetic Variants and Their Role in Health In this week’s SDS & Science Snapshot, we are highlight some of the important work of GenomeConnect . GenomeConnect is part of the Clinical Genome Resource (ClinGen), an NIH funded research project. GenomeConnect is a registry that helps you share your genetic and health information. Sharing this information will help increase our understanding of how genes affect health. A team member from GenomeConnect will be presenting at the upcoming SDS Alliance Global Patient Advocacy and Partnering Summit (POPS) hosted virtually on Sunday, October 20 at 1 PM EDT. Register and see the details on the SDS-POPS event page , here! In GenomeConnect’s recent newsletter , they published an infographic summarizing the process of detecting a genetic change (or “variant”) with genetic testing and then determining if the detected variant(s) impact health and disease-risk through a process known as “variant classification.” We have discussed the role of inherited (or germline) genetic variants  in previous SDS & Science Snapshots. The infographic and discussion below provides additional information about the variant classification process. During the variant interpretation process, experts ask important questions like: Have scientists studied this variant in a lab to see what it does? Was the variant inherited from a parent? Are there similar variants that have been studied before? Is this variant common in the general population? Has it been found in anyone who shows symptoms? And finally, what does the variant do to the protein it affects? Everyone has variants in their genome – some impact health, while others do not. These genetic variants are part of the differences that make us all unique and there are different levels of classification for variants detected with genetic testing:  Benign  and likely benign (B/LB) variants are not (or are likely not) related to disease and are not expected to cause health problems. Some genetic testing laboratories report B/LB variants, while others do not since they are genetic changes that are not anticipated to impact your health.  A genetic change classified as a variant of uncertain significance (VUS)  is more of gray area — experts aren’t sure yet if it’s related to disease or not. Pathogenic and  likely pathogenic   (P/LP) variants are definitively (or likely) related to disease and health. Genetic testing results are often considered “positive” if one or more P/LP variants are detected. Over time, as scientists do more research and more people undergo genetic testing, variants, especially VUSs, may be reclassified if new information becomes available. If you have had genetic testing, GenomeConnect encourages you to periodically check-in with the healthcare provider who ordered your genetic testing (or the genetic testing laboratory directly) to see if there have been any updates to the classification of a variant (or variants) previously detected that may impact your care. Plus, when you participate in the SDS-GPS program , you can opt-in to receive updates if we learn about changes to classifications . Watch the YouTube video below published by GenomeConnect to learn more about the variant classification process and explore GenomeConnect’s YouTube pl aylist  for more videos about genetics, genetic testing, how to read a genetic report, and more! For more information regarding the genetics of SDS specifically, you can watch this video  published by SDS Alliance. 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: New case report - successful treatment of breast cancer in a patient with SDS! 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 Case Report: Managing Solid Tumors in SDS - Challenges and Treatment Strategies As frequently discussed in the Shwachman-Diamond Syndrome (SDS) community, some individuals with SDS develop serious blood cancers, like leukemia, during their lifetime. Solid tumors, like breast cancer, are less common in individuals with SDS but can still happen. In this week’s SDS & Science Snapshot, we are highlighting a recently published article  which shares the story of an adult woman with SDS who was successfully treated for stage IV breast cancer using a combination of chemotherapy and supportive care. The patient, a 41-year-old woman, had SDS and developed a type of breast cancer that was hormone receptor-positive and HER2-positive. This means that the cancer was driven by specific hormones and proteins, which made it treatable with targeted therapies. Because of her SDS and underlying bone marrow issues, her doctors had to carefully adjust her treatment plan to avoid making her bone marrow problems worse. She was treated with chemotherapy drugs along with granulocyte colony-stimulating factor (G-CSF) to help her body make more white blood cells and reduce the risk of infections. After nine cycles of treatment, she achieved a complete response, meaning no cancer was detected. Treating solid tumors like breast cancer in patients with SDS can be particularly challenging because of their underlying bone marrow problems and increased sensitivity to chemotherapy. Many SDS patients have low levels of important blood cells (i.e. neutrophils), which makes it difficult to handle standard chemotherapy. Chemotherapy can further lower these blood cell counts, increasing the risk of severe infections and other complications. The use of G-CSF, which helps the bone marrow produce more white blood cells, can be helpful but comes with its own risks. In some cases, G-CSF might increase the chance of developing leukemia in patients with SDS, especially those with certain acquired (or somatic) genetic mutations. This risk in not well established and subject to controversy in the medical community. In any case, careful monitoring is needed to balance the benefits of cancer treatment with the potential risks. In this case, the patient was able to tolerate chemotherapy with the help of G-CSF, and her cancer responded well to treatment. However, she will need to be closely watched for any signs of blood cancers in the future, as the long-term effects of G-CSF use in SDS patients are not fully understood. For patients with SDS who develop solid tumors, it’s important to have a personalized treatment plan that takes into account these unique health challenges. Collaboration with SDS experts ins highly encouraged. Overall, this case highlights the possibility of successfully treating solid tumors in patients with SDS, but it also emphasizes the need for careful management of their underlying blood disorders. While this patient had a positive outcome, ongoing research and close follow-up are essential for understanding the best ways to treat cancer in this rare group of patients. We have reached out to the authors to offer our resources and support to the patient. Morecroft R, Logothetics CN, Tarnawsky SP, Davis AA. Chemotherapy-induced neutropenia management in a patient with metastatic breast cancer and Shwachman-Diamond syndrome (SDS): a case report. Transl Breast Cancer Res. 2024 Jul 22;5:26. PMID: 39184925 . 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: Discover how tiny zebrafish are having a large impact on SDS research and treatment 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! Understanding Shwachman-Diamond Syndrome Through Zebrafish Research Shwachman-Diamond syndrome (SDS) is usually caused by mutations in the SBDS gene, but some patients have mutations in another gene called DNAJC21. Because SDS is so rare, and mutations in DNAJC21 are even more rare, researchers often use animals, known as model organisms, like fish, mice, fruit flies, or other animals to study it. Using model organisms to study SDS and other rare diseases helps scientists better understand the disease and develop potential treatments. This is why SDS Alliance, in collaboration with the Jackson Laboratory, is committed to generating a mouse model  with mutations in the SBDS gene that scientists can use to understand SDS and ask important questions that will advance treatment development for SDS. In the SDS & Science Snapshot this week, we are highlighting a new study published by scientists at the CHEO Research Institute (Ottowa, Canada) and colleagues  which used zebrafish, a different model organism than mice, to investigate the impact of germline mutations in DNAJC21 on the development of SDS-related symptoms and identify potential treatment opportunities. Why Zebrafish Are Important for SDS Research Zebrafish are tiny fish that are often used in research because they share many genetic similarities with humans. Their fast growth and transparent embryos make them ideal for studying how genes work, particularly in conditions which affect the blood and bone marrow (like SDS). The use of zebrafish as a model organism for SDS and SDS-associated conditions is not new – zebrafish have been used as a model organism for SDS in previous research studies as well ( here is a link to one example ). In this study, scientists used zebrafish to model SDS caused by mutations in the DNAJC21 gene. By creating zebrafish with similar mutations, researchers can observe the effects of these mutations in a living organism, which provides valuable insights into how the disease affects humans. For more information about the importance of zebrafish and other model organisms in research, you can watch the video below. Key Findings and Potential New Treatment Opportunities The researchers found that zebrafish with mutations in the dnajc21 gene (the zebrafish equivalent of DNAJC21) showed symptoms similar to those seen in SDS patients. These fish had lower numbers of certain types of blood cells, grew more slowly, and had other health problems. This shows that the dnajc21 gene in zebrafish is important for normal blood cell production and overall growth, just like the DNAJC21 gene in humans. One of the exciting findings from this study is that the researchers identified a new role for the zebrafish dnajc21 gene in controlling the production of nucleotides, which are the building blocks of DNA and RNA. When nucleotide levels were low (as a result of mutations in the dnajc21 zebrafish gene), the zebrafish developed problems with blood cell production. However, when the researchers gave the fish extra nucleotides, their blood cell counts improved. This suggests that treatments aimed at increasing nucleotide levels might help manage SDS symptoms in humans. The Role of p53 and its Impact on SDS The study also explored the role of another gene shared between zebrafish and humans, TP53, which is known to be involved in cancer and cell death. When the researchers introduced a somatic tp53 mutation into the dnajc21-mutant zebrafish, they observed some improvement in blood cell counts. However, this also led to other problems, like the development of myelodysplastic syndrome (MDS), a condition where blood cells don’t mature properly and can lead to leukemia. This finding highlights the complex relationship between different genes in SDS and how they can influence the disease’s progression. For more information, you can review this previous SDS & Science Snapshot  which discusses another study investigating the role of acquired (or somatic) TP53 mutations in individuals with SDS. What This Research Means for SDS Patients and Families Although this research is still in the early stages, it provides a valuable foundation for future research studies and potential new treatments development. Research using zebrafish and other model organisms help scientists understand SDS better and offers hope for new treatments . By uncovering how different genes contribute to SDS and SDS-associated conditions, researchers can develop more targeted therapies. For patients and families living with SDS, these findings are a step forward in finding ways to navigate life with SDS and improve treatments. Ketharnathan S, Pokharel S, Prykhozhij SV, Cordeiro-Santanach A, Ban K, Dogan S, Hoang HD, Liebman MF, Leung E, Alain T, Alecu I, Bennett SAL, Čuperlović-Culf M, Dror Y, Berman JN. Loss of Dnajc21 leads to cytopenia and altered nucleotide metabolism in zebrafish. Leukemia. 2024 Aug 13. Epub ahead of print. PMID: 39138265 . Do you enjoy the SDS & Science Snapshots? 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