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.

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The SNORD116-NHLH2 pathway: insights into the molecular genetic basis of Prader-Willi Syndrome

Funded Year: 2017

Prader-Willi Syndrome (PWS) is a genetic condition resulting from paternal inheritance of a deletion within an imprinted region of chromosome 15q. The smallest known deleted region encompasses a small nucleolar non-coding RNA locus called SNORD116 (SNORD116), but very little is known about how deletion of SNORD116 leads to PWS. As shown using...

Dissecting a novel brainstem feeding circuit in Prader-Willi syndrome

Funded Year: 2017

There is currently no cure for Prader-Willi syndrome (PWS). PWS is a complex and debilitating disorder that significantly impacts the lives of not only affected patients, but their families, as well. Recent work has revealed a genetic basis for PWS, and a number of the genes affected are known to have unique expression patterns throughout the...

Examination Of Incidence Of Individuals With PWS Undergoing Total Hip and Knee Arthroplasty

Funded Year: 2017

Orthopedic anomalies are common in patients with Prader-Willi syndrome (“PWS”). Surveys suggest that roughly 19% of individuals with PWS may be diagnosed with knock knees, 10% with hip dysplasia, 7% with patellofemoral instability, and 3% with bowlegs. Yet, there is little consensus among orthopedists about how best to address these issues in...

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