Approved research

Analysis of the UK Biobank population prevalence, penetrance and effects of risk variants associated with Parkinsonism and related movement disorders

Lay summary

We have identified variants in the genome that increase the risk of neurological illness such as Parkinson's (LRRK2 G2019S, GBA L444P, and MAPT H1 haplotype). These variants vary in their ability to cause disease; a proportion of variant carriers are unaffected into old age. Our challenge is to understand why some carriers develop disease and others do not, and convert this knowledge into new treatments. Studying these variants in the UK Biobank will allow us to study: 1) their frequency in this population; 2) why some people with these variants get Parkinson's but some are protected; 3) to comprehensively study the effects of these variants both in terms of disease risk and disease protection. This will enable us to identify how many people might be eligible for a drug study; who is most likely to benefit; if there are any new drug targets and what the potential side effects might be. Our results will enhance our understanding of factors that influence disease risk, and potentially facilitate the development of treatments for illnesses such as Parkinson's.