WEHI Wednesday Seminar hosted by Professor Marnie Blewitt
 

Megan Iminitoff
PhD Student – Blewitt Laboratory, Epigenetics & Development division – Healthy Development & Ageing Theme, WEHI (this is a PhD Completion seminar)
 

Investigating the epigenetic regulator SMCHD1 as a potential therapeutic target for the treatment of Prader-Willi Syndrome and Schaaf-Yang Syndrome

 

Davis Auditorium

Join via SLIDO enter code #WEHIWednesday

Including Q&A session
 

Prader-Willi Syndrome (PWS) and Schaaf-Yang Syndrome (SYS) are incurable neurodevelopmental disorders caused by a lack of gene expression at the imprinted PWS cluster on ch15. All patients still possess a copy of each gene, but they are silenced epigenetically. As such, one therapeutic approach would be to switch the silenced PWS cluster genes back on. The epigenetic repressor SMCHD1 contributes to silencing in this region and is therefore a potential therapeutic target to address the underlying genetic cause for these disorders.

Megan has used both in vivo and in vitro methods to examine the effects of removing SMCHD1 function to treat PWS and SYS. In this seminar Megan will present promising gene expression data on the effect of removing SMCHD1 in the human and mouse context, and the consequent effects on PWS-related phenotypes in vivo. These data lay the foundation for targeting SMCHD1 as a novel therapy.

All welcome!