2024 NEWS & PROGRESS STAR’s scientific partners, the independent FSASD research consortium, met for the 17th time in November. The Consortium has grown to 20 research groups from the USA and Europe, with each group bringing different skills and experience, to study different aspects of FSASD in a collaborative effort to speed up learning more about disease mechanisms and treatment possibilities. Thanks to partial funding from organizations like STAR and the dedicated families of the FSASD community, the Consortium is excited to share with us major progress made in the past several years: Clinical Studies: A group of families with children with FSASD visited the NIH Clinical Center (Bethesda, MD) for extensive clinical studies ( “a natural history study”), so that doctors and other researchers could learn more about the course of the disease, in particular about onset and progression of symptoms. These findings can be used in the future for measuring responses to therapies (publications are pending). Cellular studies: In order to study FSASD in research laboratories, we created many tools that mimic the disease, including cells derived from affected people’s biopsies. We have collected samples from several patients, we analyze how the unique genetic changes of each person correlate to their symptoms and look at changes in the cells, even at the microscopic level. We are currently using different cell types to observe the disease state and how this can help us screening for drugs that may have an effect on FSASD. Animal models: Another way we can study genetic diseases is with animal models. Using CRISPR gene editing technology, we have created a mouse model and a zebrafish model of FSASD/Salla disease. Why zebrafish?? They have specific properties (large number of offspring, low cost) which can speed up some research such as drug testing. Animal models allow us to study the disease progression and physiology that can be difficult to study in humans, like changes to brain development and neurological function over time. The mouse and zebrafish models will be used to test the efficacy of potential new therapies for FSASD. Because of the important research progress described above, the Consortium has now reached the point that we can start testing potential therapies on FSASD animal and cell models in a controlled collaborative effort to avoid wasting time or resources. We plan to test some drugs that are already approved for use in patients with diseases similar to FSASD and we also plan to screen drug panels for potential new drugs. We plan to share our disease models and measurements for response to therapy among interested consortium groups, so that we can test different potential therapies in parallel on different models. Thank you to the FSASD Consortium for this update! Your donations to STAR’s Translational Science Award Fundraiser will directly support grants to FSASD Consortium research groups testing potential therapies (all grant applications are reviewed by STAR’s Scientific Advisory Board). page 5 of 8 www.sallaresearch.org