Dr. Thomas Bourgeron - The importance of genetics research in Phelan-McDermid syndrome

Kate engages Dr. Thomas Bourgeron, genetics expert, PMSF Scientific Advisory Committee member, and longstanding researcher in Phelan-McDermid syndrome. They discuss the importance of studying genetics to better understand disorders like Phelan-McDermid and autism. Dr. Bourgeron explains that in the early 2000’s, his lab and others identified a link between the SHANK3 gene and the occurrence of autism. He then explains the scientific journey - from identifying a gene of interest, to testing therapeutics in lab models, and describes a current clinical trial for lithium ongoing in France. He also summarizes his top goals for future research in Phelan-McDermid syndrome.

A PMSF blog post on SHANK3 genetics: https://pmsf.org/shank3-in-phelan-mcdermid-syndrome/

A PMSF blog post on Phelan-McDermid syndrome versus autism: https://pmsf.org/phelan-mcdermid-syndrome-and-autism/