Biological predictors of disease severity in Prader-Willi Syndrome (PWS)

Project status: Active

Research area: Genomic Medicine > Diagnosis and Development

Discovery on new treatments for Prader-Willi Syndrome (PWS)

Prader-Willi syndrome (PWS) is a rare genetic disorder that affects physical, mental, and behavioural development. PWS is caused by genetic abnormalities on chromosome 15 which affect function of different regions of the brain and other tissues.

About Prader-Willi syndrome (PWS)

Prader Willi syndrome (PWS) is the leading genetic cause of life-threatening obesity, neuroendocrine deficits, and psychiatric problems. Affecting approximately 400,000 people worldwide, it is associated with constant insatiable hunger, autism features, and mental illness. PWS is highly heterogeneous, presenting a significant health and economic burden.

About our project

This project addresses a pressing need for people with PWS, their families, and clinicians. We aim to define biological predictors of disease severity in PWS, and to enable evidence-based choices of targeted treatments used for other conditions.

Project goals

This project will identify:

Genetic pathways dysregulated in PWS blood and brain
Existing medications used for other conditions to target these pathways in future PWS clinical trials.