Principal Investigator: Dr Guillermo del Angel
Department: Alexion Pharmaceuticals Inc., Boston, Massachusetts, USA
Lead Collaborator – Dr Jason Funt – Immuneering Corporation, Cambridge, Massachusetts, USA
Tags: 52666, copper metabolism, rare diseases, wilson disease
Wilson Disease (WD) is a rare genetic disorder characterized by excess copper storage in various body tissues. It usually presents during the teenage years, and it manifests primarily with liver disease and neurological or psychiatric symptoms.
The disease is caused by mutations on the ATP7B gene, and is inherited in an autosomal recessive manner. Its diagnosed prevalence is cited to be of around 1/30,000 in European populations, with significantly higher presence in East Asia and in isolated places around the world, due to the presence of founder mutations.
Surveys of genetic variants in the population have found that the Wilson Disease genetic prevalence is significantly higher than diagnosed prevalence. For example, genetic prevalence was estimated to be around 1/7000 in the UK and around 1/4000 in France.
This discrepancy between genetic and diagnosed prevalence means that there is an opportunity to improve the WD diagnostic process by studying what the genetic variation in genes of interest looks like on a cohort that does not have diagnosed pediatric-onset Wilson Disease patients in it. By looking at the clinical and genetic data from the UK Biobank cohort, we aim to determine if there might be unrecognized WD patients, and what kind of genetic variation this cohort has on the genes of interest.
This work will be conducted by a team of computational biologists, statistical geneticists and Wilson Disease experts and is expected to last 3-6 months.