Projects

These researchers hypothesize that PWS is associated with changes in the perception of food odors, which may drive some aspects of hyperphagia. In this study, Drs. Steculorum and Tauber will examine the role of olfaction in both patients with PWS and a mouse model of PWS, and will explore how one potential treatment, oxytocin, impacts the...

People with PWS have abnormally high amounts of REM sleep and inappropriate occurrence of REM sleep in the middle of active wake periods. A specific population of neurons in the lateral hypothalamus secretes a neuroactive substance called melanin-concentrating hormone (MCH), which control REM sleep. To determine if MCH neurons are overactive in...

The purpose of this project is to develop a cellular assay specific to circadian rhythm defects identified by the Reiter laboratory. The eventual goal is to use this assay to screen for compounds that can normalize these circadian defects, potentially identifying drugs that would address developmental and metabolic changes that accompany...

FPWR has established the Pre-clinical Animal Network (FPWR-PCAN) initiative to rigorously define the characteristics (phenotype) of PWS mouse models compared to ‘wild type’ or typical mice. This project will transform this effort into a valuable translational platform for the PWS scientific community by conducting multi-step, comprehensive...

Inhibiting SMCHD1 is a potential new treatment for PWS and SYS. In the first year of this study Dr. Blewitt provided evidence that SMCHD1 acts in a similar way in human cells and quantitated the level of gene activation that occurs in a mouse model when SMCHD1 is removed. In this second year of funding, Dr. Blewitt will attempt to determine what...