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Presented By: Center for RNA Biomedicine

RNA Innovation Seminar: Andy Berglund, University at Albany

Mis-splicing in repeat expansion diseases and development of potential therapeutics

Andy Berglund Andy Berglund
Andy Berglund
In-person: BSRB, ABC Seminar Rooms

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
Andy Berglund Andy Berglund
Andy Berglund

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