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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ComuFaces: The perception of communicative faces by infants with Prader-Willi syndrome

Funded Year: 2015

Paying attention to communicative faces is essential for our understanding of the social world. Indeed, faces provide observers rich and complex information about the identity (gender, age, etc), the socio-emotional state (eye-brows movements, eye-gaze) and the linguistic message (auditory speech sounds/mouth movements) of our social partners. The...

Regulation of ghrelin and serotonin receptors by SNORD115

Funded Year: 2015

The loss of two regulatory RNAs is critical for the development of Prader-Willi syndrome. One of these RNAs prevents the formation of a truncated serotonin receptor. We will test the role of this truncated serotonin receptor in the production of growth hormones and determine whether it is a 'master regulator' for other receptors. Based on our...

Biological and molecular functions of PWS-encoded small nucleolar RNA genes

Funded Year: 2015

For several decades the most extensively studied human DNA sequences were those generating messenger RNAs (mRNAs) which are used as templates for protein synthesis. The process decoding the genetic information from mRNAs to proteins is carried out by molecular machines named ribosomes and proteins are commonly perceived as essential molecules...

Reactivation of the PWS locus via disruption of the ZNF274 silencing complex

Funded Year: 2015

Through a normal biological process called genomic imprinting, the chromosome 15 that is inherited from the father has a set of genes that are switched on while the same set of genes on the chromosome 15 inherited from the mother are switched off. In Prader-Willi syndrome (PWS), there is no normal copy of the paternal chromosome 15 so patients...

Ghrelin: Is it detrimental, beneficial, or inconsequential in Prader-Willi Syndrome?

Funded Year: 2015

Plasma levels of the peptide hormone ghrelin are markedly elevated in individuals with Prader-Willi Syndrome (PWS), however the functional consequences of this elevation have not yet been determined, nor are the mechanistic causes of ghrelin elevation known. Many attribute the characteristic, maladaptive PWS eating behaviors directly to ghrelin,...

Linking the cellular function of MAGEL-2 to its role in PWS

Funded Year: 2015

Background: MAGEL-2 is a gene frequently deleted or mutated in individuals affected with PWS. Furthermore, mice lacking MAGEL-2 display symptoms similar to those seen in PWS children. However, a critical barrier to our understanding of MAGEL-2’s link to PWS has been determining its function within cells. Recently, my group has solved this...

Mechanisms of sleepiness and other sleep abnormalities in a mouse model of Prader-Willi Syndrome

Funded Year: 2015

Many individuals with PWS have sleepiness, abnormal rapid eye movement (REM) sleep, and falling episodes resembling cataplexy - episodes of muscle paralysis that are usually triggered by strong, positive emotions. Caregivers, physicians and patients with PWS report significant disruption of daily life as a result of these sleep-related symptoms....

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