Projects

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.

Search Projects

Filter projects

Investigation of the Role of Fkbp5 to Induce PWS Phenotypes in a Magel2-null Mouse Model

Funded Year: 2022

With previous FPWR funding, Dr. Yu used advanced, single-cell sequencing to characterize changes in hypothalamic cells in a PWS mouse model and identified activation of a gene important in stress response and energy metabolism, Fkbp5. Here she will test whether inhibiting Fkbp5 rescues deficits in a PWS mouse model.

Prefrontal cortex MC4R neurons as a target for feeding and cognitive symptoms in PWS

Funded Year: 2022

Dr. Ross will investigate how feeding behavior and cognitive flexibility are jointly regulated in the prefrontal cortex of the brain, in neurons expressing MC4R. This study may define a neuronal circuit to target therapeutically.

MC3R inhibition as a therapeutic strategy for treating hyperphagia in Prader-Willi Syndrome

Funded Year: 2022

Dr. Sweeney has shown that the melanocortin 3 receptor (MC3R) is important in regulating food intake and has developed an antagonist of MC3R that inhibits feeding. Here he will test whether inhibition of MC3R decreases food intake in a mouse model of PWS.

How does the epigenetic regulator SMCHD1 regulate the PWS cluster in humans?

Funded Year: 2022

Dr. Blewitt has shown that inhibiting SMCHD1 allows several important protein-coding genes in the PWS to be expressed, but the effect is incomplete. Here she will determine the chromosomal landscape in the PWS region on the maternal chromosome and evaluate how that landscape changes when SMCHD1 is missing, paving the way for more efficient...

MAGEL2 role in adaptive stress response: New insights into MAGEL2 function and pathogenesis of PWS

Funded Year: 2022

Dr. Fon Tacer has been investigating the function of the MAGEL2 protein and believes it plays an important role in how cells adapt to stress. In this study she will explore how cellular stress responses are altered when MAGEL2 is lost.

Where and when does SNORD116 interact with its mRNA targets?

Funded Year: 2022

The Snord116 gene is critical in PWS, but its normal function is incompletely understood. Dr. Good will establish an atlas of where and when the SNORD116 RNA is expressed in the developing mouse brain and how it interacts with one of its putative target genes, Nhlh2, to gain insight into the underlying molecular basis of PWS.

Unraveling the mechanism of PWS by molecular dissection of driver genes in hypothalamic neuron model (Year 2)

Funded Year: 2022

Dr. Derek Tai developed PWS cell lines representing type 1 and 2 deletions and has grown them as 3-D brain organoids, recapitulating the hypothalamus, in a dish. He has applied cutting edge technology to understand how PWS neurons differ from typical neurons and has generated data on gene expression changes. In year 2, he will expand the study to...

Effects of Ultrasound Sensory Neuromodulation in Multiple Mouse Models of Prader-Willi Syndrome

Funded Year: 2022

Dr. Puleo and his team are investigating the use of peripheral ultrasound to modulate targets in the brain and impact energy balance and weight. They have strong preliminary data in several mouse/rat models of obesity and have performed early-stage clinical trials in healthy obese people. Here they will investigate mouse models of PWS to as a...

Impact of Bright Light Therapy on All-Cause Excessive Daytime Sleepiness in Prader-Willi Syndrome

Funded Year: 2022

Dr. Singh and his team will be performing a clinical trial of bright light therapy in children (6-18 years old) with daytime sleepiness, and evaluating the effects on sleepiness, behavior and activity.

donate to FPWR for PWS research