10th International Unstable Microsatellites and Human Disease Meeting - Project Summary This application requests funding for the 10th International Microsatellites and Human Disease (UMHD10) conference to be held in Guanacaste, Costa Rica from January 14th to 19th, 2025. The UMHD conference series has successful track record of scientific exchange and clinical collaborations that have encouraged breakthrough research. Since their discovery in the early 1990s, research into repeat expansion mutations have led to novel insights into fundamental biological processes, which has produced significant therapeutic progress. Microsatellite repeat expansions are associated for 70+ human diseases, ranging from common neurological disorders, like Alzheimer’s disease (AD), Amyotrophic Lateral Sclerosis (ALS), and autism spectrum disorder (ASD), to rarer disease, like Huntington’s Disease, Myotonic Dystrophy, and spinocerebellar ataxias (SCAs). UMHD10 finds the field sitting on a cusp of transformative change across multiple fronts, but also facing significant barriers. While repetitive sequences have been estimated to make up 75% of the human genome, research into the role of these sequences in biological processes is still ongoing. On the clinical front, the complexity and variability associated with many repeat expansion disorders has limited therapeutic progress. UMHD10 aims to attract the brightest minds in the field with a comprehensive program that provides an inclusive and open environment for the open exchange of ideas, the creation of interdisciplinary collaborative peer networks, and the development of career skills. The three main specific aims/objectives of the meeting are (1) to advance the field’s understanding of the role of microsatellites in human biology and to spur development of therapeutic technologies, analytics, and tools to tackle associated human diseases; (2) to provide an inclusive and open environment for the exchange of ideas, the creation of interdisciplinary collaborative peer networks, and the development of career skills; and (3) to increase participation in the microsatellite field at all stages (research, clinical & advocacy) by individuals typically underrepresented in biomedical research. The meeting’s goal is to advance understanding of microsatellites in human biology and to spur development of therapeutic technologies, analytics and tools to tackle the associated human diseases.
