HYBRID SEMINAR:
In-person: BSRB, ABC Seminar Rooms
Zoom: https://umich.zoom.us/webinar/register/WN_qbOGve5KT7mUErr2Pg0Aow

Abstract: Repeat or microsatellite expansions are responsible for more than 50 human diseases. Myotonic dystrophy (DM), amyotrophic lateral sclerosis (ALS), and spinocerebellar ataxias (SCAs) are a few examples of repeat expansion diseases. RNA processing (pre-mRNA splicing) pathways are negatively impacted in these diseases with specific changes in pre-mRNA splicing proposed to lead to symptoms observed in affected individuals. Many of the projects in the lab combine biochemical, molecular, and genomic approaches with cellular and other model systems to understand the mechanisms through which these diseases alter pre-mRNA splicing. Through screening approaches, small molecules have been identified that reduce the levels of the repeat expansion RNAs and rescue mis-splicing in DM and SCA cell and animal models.

Keywords: Myotonic Dystrophy, Spinocerebellar Ataxias, Alternative Splicing and RNA Binding Proteins