Projects

INVESTIGATING A NEW POTENTIAL TARGET FOR TREATMENT IN PRADER-WILLI SYNDROME

Funding Summary Dr. Rice and colleagues have shown that there is a decrease in GABA (a compound that helps turn brain activity off) in the brains of individuals with PWS, and this is associated with emotional problems, including a tendency for temper outbursts.  In this project, the team will use brain imaging (fMRI) to examine whether a false

INFLUENCES OF SOCIAL COGNITION AND REWARD ON ASD SYMPTOMS AND BEHAVIOUR IN PWS

Funding Summary Social cognition, or the ability to understand the thoughts and feelings of others, is impaired in PWS. Social reward circuitry (which places value on things in our environment) may also be altered. This impairment may contribute to oppositional behavior and ASD symptoms, which are common in PWS.

A MOUSE MODEL TO ASSESS GENETIC THERAPIES FOR PRADER-WILLI SYNDROME

Funding Summary Genetic therapy has the potential to address the root cause of PWS, however, several feasibility questions need to be answered before we can consider genetic therapy for PWS. For example: Does activation of the PWS genes reverse symptoms in models of PWS? Which genes must be turned on? Does gene activation need to occur before a false

ENHANCING SATIATION SIGNALING TO REDUCE OVEREATING AND OBESITY IN PRADER-WILLI SYNDROME

Funding Summary Lack of satiety, or feeling 'full', is a hallmark characteristic of PWS. Satiety mechanisms are not well understood, and it is not clear how the stomach signals the brain to stop eating. It is believed, however, that the vagus nerve to hind brain connection (NTS) may be a key part of this mechanism. In this project, Dr. Edward Fox false

The Functional Development of Hunger Neurons in Prader-Willi Syndrome

Funding Summary AgRP ('hunger') neurons are found in the hypothalamus and control feeding, metabolism and compulsive behaviors. There is evidence that AgRP neurons may be overactive during development in PWS, which might lead to some of the characteristics of PWS. In this project, Dr. Dietrich will use a cutting edge technology developed in his false

CRISPR-mediated molecular dissection of Prader-Willi syndrome

Funding Summary The PWS region of chromosome 15 consists of several genes. While we know the loss of all these genes together will lead to the characteristics of PWS, we still don’t know exactly what is the contribution of each gene. In this project, Dr Talkowski's team will use CRISPR technology (a very precise way to cut out parts of the genome) false

Genomewide identification of mRNA sites of 2’-O methylation targeted by SNORD116 snoRNAs

Funding Summary While we know the loss of SNORD116 (a gene that encodes many snoRNA molecules on Chromosome 15) leads to characteristics of PWS, we do not know how this exactly works. We need to understand how SNORD116 functions normally in order to understand why the loss of this region leads to PWS. It is likely that the snoRNAs in the SNORD116 false

Targeting SMCHD1 to address the underlying cause of PWS and SYS

Funding Summary Associate Professor Blewitt and her research team study how genes shift between ‘sleeping’ to ‘awake’ states, and how this impacts a range of diseases.  “A protein called SMCHD1 keeps many genes in their sleeping state,” Associate Professor Blewitt said. “We discovered that SMCHD1’s targets include some of the maternal genes that false

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