RNA Innovation Seminar: Shuying Sun, Johns Hopkins University

“RNA Metabolism in C9ORF72-linked neurodegenerative diseases ALS and FTD”
Shuying Sun, Ph.D.

Associate Professor, Department of Physiology
Brain Science Institute
Johns Hopkins University School of Medicine

In-person: BSRB, ABC seminar rooms / hybrid link

Abstract: We have a long-standing interest in RNA metabolism dysfunction and RNA-targeting therapy in neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The hexanucleotide GGGGCC repeat expansion in C9ORF72 is the most frequent genetic cause of both ALS and FTD. RNA-mediated gain of toxicity is critical for the pathogenesis. We employ multiple molecular approaches to understand the regulation of the repeat RNA processing, uncover genetic modifiers, and elucidate the influence on global RNA metabolism. We aim to understand the disease mechanisms and identify potential therapeutic targets for C9ORF72-ALS/FTD.