SCSB Colloquium Series: Rett syndrome: Are we on a path to a disease modifying treatment?

Date: Wednesday, April 19, 2023
Location: 46-3002 (Singleton Auditorium) and YouTube Stream (https://youtu.be/mzG8H9WYRfc)

Speaker: Gail Mandel, Ph.D.
Affiliation: Senior Scientist, Vollum Institute, Oregon Health & Science University

Hosts:  Dr. Guoping Feng and Dr. Chenjie Shen

Talk title: Rett syndrome: Are we on a path to a disease modifying treatment?
Abstract: I will present some new and promising data that points to targeted RNA editing as a potential means to repair and potentially reverse symptoms in a childhood neurological disease. The development of our approach has focused on Rett syndrome, a neurological disease that is caused by de novo loss of function mutations in the gene encoding the transcriptional repressor, Methyl CG binding protein 2 (MECP2).  Rett syndrome mouse models are an excellent testing ground for the efficacy of a targeted RNA editing approach to repair mutations at the root source in neural cells. The disorder is specific to the nervous system, and early work has shown that Rett-like symptoms are reversible in mice following MeCP2 restoration at the postnatal symptomatic stage.  Our recent findings will be discussed in the context of alleviating, in a new mouse model, a hallmark respiratory symptom that closely replicates the symptom in female Rett syndrome patients.