Commonalities and Differences to Decipher the Pathogenic Mechanisms and Develop Effective Therapies

The CAG Triplet Repeat Disorders GRC focuses on advancing the knowledge on a family of inherited neurological disorders that include 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). They are all rare and all lack disease modifying therapies. They all share a similar pathogenic mechanism: the presence, in each gene, of an expansion of a CAG triplet repeat that when above a specific threshold will lead to disease. Also, the longer the repeat, the more severe the disease. However, each of these diseases are specific in term of their clinical characteristics, the brain or peripheral regions that are primarily affected, a feature that could be explained by the identity of the different genes, their interactors, their pattern of expression and/or the circuits involved.

At the 2025 Gordon Research Conference on CAG Triplet Repeat Disorders we will hear cutting edge talks from experts exploring the clinical, pathological and biological aspects of these diseases with the objective to better understand the specificities and commonalities between these disorders and to identify/develop effective therapies. There will be ample time for critical discussion, and opportunities for young investigators to present on emerging new data by including talks selected from submitted poster abstracts, integrated into all sessions.