Poster Presentation 47th Lorne Genome Conference 2026

Exploring an epigenetic approach towards treatment for the genomic imprinting disorder Prader-Willi Syndrome (133253)

Megan Iminitoff 1 2 , Tamara Cameron 1 , Caleb Chew 1 , Andrew Keniry 1 2 , Marnie Blewitt 1 2
  1. WEHI, Parkville, VIC, Australia
  2. University of Melbourne, Melbourne, VIC, Australia

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by a lack of gene expression at the imprinted PWS cluster. PWS patients all preserve a normal yet epigenetically silenced copy of PWS genes. We are investigating SMCHD1, a known epigenetic repressor with a role in silencing at the PWS locus, as a potential target for gene activation therapy in PWS patients. Using mouse models we have confirmed in vivo activation of imprinted PWS genes following Smchd1 deletion and a resulting improvement in some disease phenotypes. We also observe PWS gene activation following SMCHD1 depletion in human patient-derived cells. Taken together these data support the feasibility of targeting SMCHD1 for epigenetic therapy in PWS.