Under the guidance of our Scientific Advisory Board through a carefully managed grants process, FPWR selects research projects based on the collaborative input of researchers and parents, choosing projects that are both scientifically meritorious and highly relevant for individuals with PWS and their families.

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Deciphering the role of olfaction in Prader-Willi Syndrome

Funded Year: 2023

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...

MCH neuron dysregulation in the pathophysiology of Prader-Willi Syndrome

Funded Year: 2023

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...

Advance Development of a Cell-Based Test for Screening of Drugs to Correct Circadian Rhythm Defects in PWS

Funded Year: 2023

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...

The Prader-Willi PreClinical Animal Network (PCAN):Establishing a computational platform for the PCAN initiative

Funded Year: 2023

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...

Targeting SMCHD1 to address the underlying cause of PWS

Funded Year: 2023

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...

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