Do large somatic expansions of the HTT CAG repeat cause Huntington disease?

Dr. Chris Kay is a geneticist and molecular biologist working to understand the molecular pathogenesis of repeat expansion disorders, with focus on Huntington disease (HD). He earned his doctorate in Medical Genetics at the University of British Columbia under the guidance of Dr. Michael Hayden, leading discovery of genetic variants for therapeutic silencing of the HD mutation. Dr. Kay has made key contributions to the genetics of HD, including detailed haplotype analysis of the HD mutation, somatic and germline instability measurements of HD alleles, and estimating the penetrance of the HD mutation in the population. He worked for three years in patenting of life sciences assets in academia and the biotechnology industry before returning to HD research. In his current work, Dr. Kay studies genetic variants that alter the presentation of HD, and how these variants accelerate HD pathology in the brain. He is the 2023 HDSA Berman-Topper Career Development Fellow, awarded to one early-career HD researcher worldwide per year.