Mechanisms and therapeutic targets in C9orf72-associated ALS/FTD
Neuroscience Seminar Series

Abstract:
A hexanucleotide repeat expansion within the first intron of C9orf72 (C9) gene is the most common genetic cause of both familial and sporadic cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). C9 repeats can be bidirectionally transcribed into sense and antisense strands of repeat-containing RNAs, both of which can be in turn translated into a variety of toxic dipeptide repeat (DPR) proteins. In this talk, I will discuss our recent work uncovering a key role of RNA processing in the retention and nuclear export of C9 repeat RNAs, as well as our ongoing work applying CRISPR-based functional genomics to identify novel regulators of C9 repeat expression as potential therapeutic targets.

About the Speaker:
Junjie Guo received his bachelor's degree in Biology from Peking University and completed his PhD in Neuroscience at Johns Hopkins University School of Medicine, working with Hongjun Song on neuronal DNA methylation. During his postdoctoral training with David Bartel at the Whitehead Institute/MIT, he developed a series of high-throughput computational and experimental methods to investigate circular RNAs and intracellular RNA folding. He joined the Department of Neuroscience at Yale School of Medicine in Fall 2017, and is currently an Associate Professor of Neuroscience and co-Director of Graduate Studies of the Yale Interdepartmental Neuroscience PhD Program.

The Guo lab is broadly interested in the molecular mechanisms underlying post-transcriptional gene regulation in neuronal homeostasis, brain aging, and neurological disorder. Current work in the lab employs biochemistry, cell biology, genetics, and functional genomics approaches to investigate the roles of RNA and RNA-binding protein dysregulation in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Contact

  Yingwei Mao
  yzm1@psu.edu