Prader-Willi Syndrome is a non-inherited genetic condition. It occurs spontaneously with an estimated incidence of 1 in 10,000 to 1 in 30,000 people.
Prader-Willi Syndrome is caused by deletion or lack of several genes on chromosome 15. There are three ways this can occur:
- Paternal gene deletion of the gene section 15q11-q13 (accounts for ~70% of cases)
- Maternal disomy, where both chromosomes 15 come from the mother and so are unexpressed (accounts for ~25% of cases)
- A problem in the imprinting centre which controls the expression of the gene (accounts for ~5% of cases)
Our long-term aim is to fund research which allows the development of genetic treatment(s) that target these underlying causes of Prader-Willi Syndrome.