2023 CAG Triplet Repeat Disorders Gordon Research Conference and Seminar

Gordon Research Conferences, East Greenwich RI

Investigators

Abstract

Abstract The 2023 Gordon Research Conference on CAG Triplet Repeat Disorders will gather leading scientists from around the world to discuss novel high-impact research on CAG Triplet Repeat Disorders. The family of CAG triplet repeat diseases includes Huntington's disease (HD), the spinocerebellar ataxias (SCAs) 1, 2, 3, 6, 7, 12 and 17, spinal and bulbar muscular atrophy (SBMA) and dentatorubral pallidoluysian atrophy (DRPLA). These diseases are a subset of a larger group of neurological and neuromuscular disease caused by various microsatellite repeat expansions. The objective of the conference is to promote interdisciplinary exchange of information and approaches. The conference will bring together leading senior and rising junior researchers, with a broad range of experts from interrelated areas with high relevance to the investigation of CAG repeat diseases, and foster diversity of speakers and discussion leaders. This is the eleventh conference in this very successful series in a dynamic and fast-moving research field, now developing treatments from mechanistic research for these currently intractable diseases. Genetic research is revealing common mechanisms that may underpin multiple diseases of this type alongside mechanisms that underpin specific aspects of each disease. Such common mechanisms appear to extend to non-CAG/CTG repeat disorders and we shall incorporate these into the program where they can illuminate common mechanisms. Our ability to better define the mechanisms underpinning disease is in turn allowing the translation to novel therapies for these untreatable diseases. The multiple-disease nature of this conference allows cross-fertilization of research from one disease to another to enhance research progress. We will build on the successful session in the 2019 conference by having two sessions examining how the new scientific research in this field is leading to novel disease-modifying therapies in the CAG triplet repeat disorders, and how these are being delivered in clinical trials. Treatments will also be a focus of our exciting opening keynote session. We will assess the genetics of repeat disorders that implicate DNA handling as an important mechanism across repeat disorders. We will examine the dynamics of repeat loci in the genome, the mechanisms of which are implicated across multiple repeat disorders, and investigate what we can learn from other repeat disorders. There will be a GRS, which will bring together senior and early career scientists and include a mentorship component. Understanding the molecular foundations of CAG repeat diseases will enable the development of new diagnostic and therapeutic strategies. Translation will be encouraged by the combination of basic scientists, translational researchers and clinical researchers, including clinical trials. In summary, we are developing an exciting scientific program that emphasizes emerging themes in pathogenic mechanisms of the CAG repeat disorders, as well as novel diagnostic techniques, and potentially disease-modifying therapeutic approaches.