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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Neuronal Mechanisms of Developmental Cognitive Impairment in the SNORD116Del Mouse Model for Prader-Willi Syndrome

Funded Year: 2019

In a summer project, a student in Dr. Wells’ laboratory will explore the basis of impaired cognitive ability in a mouse model of PWS. The developmental differences in neurons, specifically examining the dendrites, which are the branches of the nerve cell. Size, shape, and branching of the neurons in PWS mice will be characterized and compared to...

Allele-Specific DNA Replication Timing of the Prader-Willi Locus and its Influence on Neuronal Development

Funded Year: 2019

Dr. Koren studies how DNA is copied (replicates) as cells grow and divide. He previously discovered that the PWS region of chromosome 15 is unique in that the timing of DNA replication on the father’s chromosome is very different than the replication of DNA on the maternal chromosome 15. He hypothesizes that loss of the PWS genes on the father’s...

Role of Central Amygdala Anorexia Neural Circuits in Prader-Willi Syndrome

Funded Year: 2019

This funded project, led by Dr. Cai, will look at the problems in satiety (the feeling of being full) signaling in a mouse model of PWS. Dr. Cai thinks that a specific set of neurons in the amygdala region of the brain do not receive or respond to satiety signals properly, and that is why the appetite suppression in PWS is impaired. He will use...

Role of MAGEL2 in Excitatory Synapse Function

Funded Year: 2019

Dr. Atasoy and his team have recently discovered that the protein Magel2 is important in allowing oxytocin neurons in the brain to communicate normally. These neurons are involved in social behavior, cognition and infant feeding. This funded project will study a mouse model of PWS that is lacking Magel2, to understand how loss of Magel2 impacts...

Investigating the Cause of Mental Illness in PWS Using Magnetic Resonance Spectroscopy (MRS)

Funded Year: 2019

Dr. Holland is a psychiatrist with a long-standing interest in understanding why individuals with PWS are susceptible to mental illness. In this funded project, he will use a brain imaging technique called “magnetic resonance spectroscopy” to look at levels of the neurotransmitter, GABA, in the brain. Dr. Holland thinks that differences in GABA...

Investigation of Rapamycin as a Therapeutic Option in a Mouse Model of Schaaf-Yang Syndrome (SYS)

Funded Year: 2019

Dr. Schaaf and his team have examined a mouse model of Prader-Willi syndrome (PWS) and Schaaf-Yang syndrome (SYS), as well as neurons made from skin cells of people with SYS, and have found a significant overactivation of an important cellular pathway called the “mTOR” pathway. There are currently FDA-approved drugs that can reduce the activity...

Evaluating Endosomal Recycling Pathways in Primary Neurons from PWS Individuals (Year 2)

Funded Year: 2019

Dr. Potts and his team have studied cells from PWS ‘baby teeth’ to identify changes in cellular function in PWS. They found that the vesicle recycling is altered in PWS cells, and that this is a consequence of loss of the gene, MAGEL2. They also described that developmental changes in cells from children with PWS compared to typical children. In...

Role of the PWS Gene Magel2 in the Developing Hypothalamus

Funded Year: 2019

Dr. Malcolm Low is an expert in the biology of the nervous system as it relates to appetite. Previously, he has discovered that the Magel2 protein is active in a set of neurons in the brain that regulate appetite. In this project, his team will apply a cutting edge technology, “single cell sequencing”, to determine how these neurons and brain...

Cellular Role of MAGEL2 in Prader-Willi and Schaaf-Yang Syndromes (Year 2)

Funded Year: 2019

In Prader-Willi and Schaaf-Yang syndromes, the MAGEL2 gene is lost or mutated. It is important to understand the normal function of the MAGEL2 gene to better understand what happens when that function is missing. Dr. Rachel Wevrick and her team, in their first year of funding, discovered that MAGEL2 normally works with other proteins that help...

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