Projects

Summary With a newly established mouse model of PWS that remarkably models the unique pattern of nutritional phases in PWS development, Dr. Nicholls will measure gene expression, hormones, and metabolites to understand these phases, the triggers for transitions between them, and the ideal time for a treatment to improve production of multiple...

Summary Dr. McKinney will assemble PWS families and medical professionals to adapt a group therapy where teens and their caregivers together learn skills to manage stress, emotions, and behaviors unique for PWS families with teenagers.

Summary Sleep is a significant challenge in both SYS and PWS. This project, led by Dr. Andrew Liu, will use a new mouse model of Schaaf-Yang syndrome (SYS) to investigate how the protein MAGEL2 regulates normal sleep and other cyclic behaviors.

Summary Dr. Gersbach’s earlier success in unsilencing maternal copies of PWS genes in developing neurons will now be adapted to work in mature neurons. He will identify regulatory features hindering unsilencing in mature neurons and test combination therapies to enable stable reactivation in PWS patients of any age.

Summary BDNF has been remarkably effective in proof-of-concept studies but there has been no viable approach for delivery. This project, led by Dr. Simona Capsoni, will attempt to both develop and validate a novel, non-invasive, intranasal delivery strategy for BDNF in PWS.

Summary Dr. Cai previously discovered that the “fullness” signal hormone CCK is present at normal levels in PWS but apparently ignored, and even adding more is ineffective. To understand why, he will proceed with advanced brain imaging techniques to identify which cells in which brain locations are affected, and he will attempt to stimulate them...

Summary The protein G9a participates in silencing maternal copies of PWS genes. With expertise in G9a targeting, Dr. Al-Sady aims to define and specifically block the mechanisms bringing G9a to PWS genes without off-target effects.