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From the Founder, Dr. Eszter Hars Dear SDS community, I am so excited to have been able to launch this project. To recap: This project is the first major puzzle piece in our strategy to drive therapy development for SDS. Our strategy includes developing key research tools for the research community by partnering with the best experts in the field. Therapy development is a very complex and expensive endeavor, and we (as a rare disease community) need to be very strategic and focused in order to make progress, fast. We are celebrating the opportunity to make this transformational impact on research and do our part for a brighter future for our children and patients. We recently hosted a webinar to discuss this project with this expert panel, and compiled a short video of the highlights. This mouse model project is filling a huge need: The research community needs a mouse model that (a) is based on the SBDS mutation that is most prevalent in the patient population (the 258+2T>C splice-site mutation), and (b) is able to recreate SDS symptoms representative of SDS in patients. The benefits include: having both the typical genetic and protein defect expressed in all cells of a mammalian model, so that interactions between different cells and tissues can be measured. having a viable mouse, so important long term phenotypes (such as clonal evolution, leukemia, immune defects, cognitive challenges) and potential benefits of therapies can be measured. enabling the development of gene targeted therapies, including gene editing, base editing, and antisense oligonucleotide therapies (ASOs). This is exactly what we set out to do in partnership with the Jackson Laboratory and leading SDS scientists, including Dr. Johanna Rommens (SickKids Research Institute/Toronto, Canada), Dr. Marc Raaijmakers (Erasmus MC Cancer Institute, The Netherlands), and Dr. Alan Warren (Cambridge University Hospitals, UK). About the SDS experts and scientists on the webinar panel: Dr. Johanna Rommens Senior Scientist Emeritus at SickKids Research Institute/Toronto, Canada Dr. Rommens is a Senior Scientist Emeritus at SickKids Research Institute and a Professor in the Department of Molecular Genetics at the University of Toronto. She and her team have identified the main gene responsible for cystic fibrosis, and in 2003, the main gene responsible for Shwachman-Diamond Syndrome (SDS), the SBDS gene. With this discovery, she is a true pioneer and has put SDS on the biomedical research map. She proceeded to develop multiple mouse models for SDS, enabling a wide range of scientific insights into the disease. Her input into the current mouse project has been instrumental. Professor Alan Warren Professor of Haematology, Cambridge University Hospitals, UK NHS Foundation Trust Professor Warren is currently Professor of Haematology at the University of Cambridge, UK, Clinical Lead for Bone Marrow Failure and Myelodysplastic Syndromes at Cambridge University Hospitals, and elected Fellow of the Academy of Medical Sciences in 2005. His lab is focused on ribosome biology and the clinical impact of its defects. Ribosomes are the universally conserved macromolecular machines that decode the mRNA to make proteins. Defects in the ribosome assembly process cause the 'ribosomopathies', a fascinating new group of human developmental disorders that perturb hematopoietic stem cell function and promote progression to bone marrow failure, myelodysplastic syndrome and acute leukaemia. Professor Warren's lab discovered that defective assembly of ribosomes, the machines in all our cells that make protein, causes Shwachman-Diamond syndrome. Currently, he is developing a compound screening program based on a drosophila SDS model to find drug candidates for SDS, and if successful, will need mouse models to move the development forward, Professor Marc Raaijmakers Professor of Hematology, Erasmus MC Cancer Institute, the Netherlands ​ Prof. Dr. Marc H.G.P. Raaijmakers, MD, Ph.D. is a professor of Hematology in the Department of Hematology at the Erasmus MC Cancer Institute, Rotterdam, the Netherlands. He completed postdoctoral research at the Department of Stem Cell and Regenerative Biology at Harvard University and the Harvard Stem Cell Institute, revealing a concept of niche-induced oncogenesis in the hematopoietic system. He (co)-authored papers in leading journals including Nature, Cell, Cell Stem Cell, J. Exp. Med, Blood and Leukemia, served in the editorial boards and provided numerous invited lectures at international meetings, including the European and national societies of Hematology (U.S.A., France, Germany, Spain and Japan) as well as multiple sessions of the International Shwachman-Diamond Syndrome Congress.He chairs the expertise center on Leukemia Predisposition Syndromes at the Erasmus MC Canncer institute and the EHA scientific working group on Rare Hematological Blood Cancers. His laboratory studies micro-environmental contributions to the pathogenesis of hematopoietic disease with an emphasis on the initiation and evolution of preleukemic disorders. He published several articles on Shwachman-Diamond Syndrome and lead the efforts for the development of several SDS research models. His clinical focus is in bone marrow failure syndromes and acute myeloid leukemia. Cathleen (Cat) Lutz, Ph.D., M.B.A. Senior Director, Mouse Repository & In Vivo Pharmacology Genetic Resource Science / Senior Research Scientist, ME, USA Dr. Lutz is Director of the Mouse Repository and the Rare and Orphan Disease Center at The Jackson Laboratory. She has fiscal and managerial oversight of a growing collection of more than 8,500 unique strains, including over 1,700 live colonies for distribution to the scientific community. As part of the Mouse Repository program, Dr. Lutz is the Principal investigator on a number of NIH sponsored resource grants, including the Mutant Mouse Regional and Research Center at JAX, The SMSR grant to support recombinant inbred and Chromosome substitution panels, as well as the NICHD Cytogenetic Resource to support Down Syndrome related strains and research. Dr. Lutz also serves as the Director of In Vivo Pharmacology and Efficacy Testing Program in Bar Harbor, which interfaces with biotechnology and pharmaceutical companies to pursue novel therapeutics across a variety of therapeutic areas. She has been awarded a Rare Impact Award from the National Organization for Rare Disorders (NORD) in 2021. As highlighted in our original project announcement, we are raising funds for the characterization work. To donate or fundraise toward this project, please visit our donation platform or use Facebook fundraiser.

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

Boston Children's Hospital's Discoveries Blog features this exciting story about SDS research. Read the full story, here. In a research paper published January 27 in Nature Biomedical Engineering, researchers describe how weakened bone marrow from SDS patients performed in a new research tool, known as the organ-on-a-chip (Organ Chip). They hope it will provide a new strategy for understanding the bone marrow disease, Shwachman-Diamond syndrome (SDS), and help develop new treatments one day. “This model can be used for biological studies and for drug screening,” says Dr. Shimamura. “In my lab, we have identified some potential therapeutic targets for treating SDS that we hope to test with the new bone marrow chip.” Read the whole story, here. The scientific research paper is available, here.

Let us help you create a blog post. Email us today at CureSDS@gmail.com. Welcome to your blog post. Use this space to connect with your readers and potential customers in a way that’s current and interesting. Think of it as an ongoing conversation where you can share updates about your community, trends, news, and more. Do you have a design in mind for your blog? Whether you prefer a trendy postcard look or you’re going for a more editorial style blog - there’s a stunning layout for everyone. You’ll be posting loads of engaging content, so be sure to keep your blog organized with Categories that also allow visitors to explore more of what interests them. Create Relevant Content Writing a blog is a great way to position yourself as an authority in your field and captivate your readers’ attention. Do you want to improve your site’s SEO ranking? Consider topics that focus on relevant keywords and relate back to your website or business. You can also add hashtags (#vacation #dream #summer) throughout your posts to reach more people, and help visitors search for relevant content. Blogging gives your site a voice, so let your business’ personality shine through. Choose a great image to feature in your post or add a video for extra engagement. Are you ready to get started? Simply create a new post now.

We can help you write if you like. Simply contact us at CureSDS@gmail.com. Welcome to your blog post. Use this space to connect with your community in a way that’s current and interesting. Think of it as an ongoing conversation where you can share updates about research, trends, news, and more. Do you have a design in mind for your blog? Whether you prefer a trendy postcard look or you’re going for a more editorial style blog - there’s a stunning layout for everyone. You’ll be posting loads of engaging content, so be sure to keep your blog organized with Categories that also allow visitors to explore more of what interests them. Create Relevant Content Writing a blog is a great way to position yourself as an authority in your field and captivate your readers’ attention. Do you want to improve your site’s SEO ranking? Consider topics that focus on relevant keywords and relate back to your website or business. You can also add hashtags (#vacation #dream #summer) throughout your posts to reach more people, and help visitors search for relevant content. Blogging gives your site a voice, so let your business’ personality shine through. Choose a great image to feature in your post or add a video for extra engagement. Are you ready to get started? Simply create a new post now.

The SDS Registry celebrated by hosting the SDS Family Day (conference) in Boston, MA, US. A summary of the event was published by the SDS Registry in their newsletter, which they published in December 2019. Click on the newsletter image below. "We benefited so much from the cutting-edge contents and all the opportunities to network with families, doctors, and researchers" - an SDS family attending the event

Boston Children's Hospital's Patient Stories section features an SDS family's story. Read the whole story, here. Sophia Namazy, 14, wrote a children’s book called Pigtails, Ponytails and Fairy Tales that’s currently available on Amazon about their 8-year-old sister Poppy’s bad hair days, and dedicated the story to Max, who has Shwachman-Diamond Syndrome (SDS). She is also donating the proceeds from the sales of the book to support research on Shwachman-Diamond syndrome being conducted by Dr. Akiko Shimamura, Max’s oncologist and director of the Bone Marrow Failure and Myelodysplastic Syndrome Program at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. “If we can help other kids like Max with the money we raise, or if we can even find a cure, it’s worth it,” says Sophia Read the whole story, here. The book is available for purchase on Amazon, here.

Written for The Spinoff magazine (NZ) / By Kiki Van Newtown In this story, you can learn about this Rock 'n Roll family's journey with SDS in New Zealand. Read the article at its original source on The Spinoff, here. “...I forgot about life outside the illness. I was no longer a punk rock hooligan. I was the parent of a very sick and fragile child.” writes Kiki.

In Loving Memory Tavi passed away from complications of SDS and stem cell transplant surrounded by her loving family. Her mother Allison, shares some beautiful words about grief on this Rare Disease Day: "Grief is so hard to wrap your head around. At least it is for me. There are so many days that I am so happy, content and grateful for my life. There are a few days-usually birthdays, memories of events that happened on that day and of course her death that just hit you like a ton of bricks. But then there are days like tomorrow where it sneaks up on me that just overwhelms me. It is Rare Disease Day, a day to support and remember our rare disease warriors- but to me it is so much more than that. It is a day I had never heard of 8 short years ago. Yes, I knew there were rare diseases. Our sweet niece had a rare disease. But never in a million years did I ever imagine it would be something that would change our lives. And now it defines our family. Our children. And especially our Tavi. I often think about losing Joey- should we have pushed more to find out what happened to him? Would we have discovered then that we were carriers of a rare disease and could’ve prevented our future children from having it? These are questions that I will never have answers for. And that is hard. The kids and I looked at pictures of Tavi, talked about her, looked at her clothes and her blanket that I keep in my nightstand- we cried. It is so hard to try to understand why this disease came into our lives and took away our children. And to try to explain this to Anika and Dresden is impossible. All we can do is continue to talk about her. Share her short life and spread awareness. I am sad, especially tonight. I miss her sweet face, her fighting spirit and the love that we shared. Love never dies, but a part of me continues to die each day without her. It still just feels like such a dream- but it is my reality and I have to continue to learn how to navigate through my life without her. I will be ok. I am surrounded by so much support, love and strength. And I appreciate more than anyone will ever understand that I can talk about her openly and share my feelings. But grief is hard. It is so so hard. Hope to see you in my dreams tonight, my sweet girl.

In Loving Memory Andrew passed away from complications of Shwachman-Diamond Syndrome (SDS) in 2012 at just three months old. He had a very severe manifestation of SDS and didn't have a single "easy" day. He fought to to live all his life to live, and is dearly missed by his family every single day. From Andrew's obituary: After months of fighting, Andrew Bryan Lillywhite, 3 and a half months, returned to his Father in Heaven, while in the loving arms of his parents on Friday, October 19, 2012, at 11:28 a.m., in Albuquerque, New Mexico. Surrounded by family, this beloved child left our world of pain and is now an angel at peace, watching over his family and awaiting the day when they will be reunited in Heaven. Andrew was born on July 1, 2012, at 8:04 a.m., weighing 7 lbs. 5 oz. and 19 in. long. He had blue eyes and beautiful blonde hair. Andrew had a sweet smile and personality. He loved to be cuddled and held by his family. Andrew's journey on earth was short but he made an impact on countless lives all over the world.