Objective/Rationale:
Currently at 23andMe we have whole-genome genotype data for 5,449 Parkinson’s disease (PD) patients and 110,853 healthy subjects. This is by far the largest cohort of case-control samples in the world and a tremendous resource for research in PD. Our main objective is to perform detailed analysis of this data to further clarify the role of genetics in PD.
Project Description:
Although we have this remarkable dataset, we do not currently have the in-house resources to maximize the utility of the data. In 2011, we published a report of our initial results in PLoS Genetics, a peer-reviewed journal. We aim to do a more in-depth analysis that builds upon the results previously generated. To do this, we have invited external collaborators with vast expertise in the analysis of similar datasets to join 23andMe for a short period of time. We foresee this collaboration to yield several medium to high impact reports further detailing the role of genetics in PD, while maximizing the utility of the dataset.
Relevance to Diagnosis/Treatment of Parkinson’s Disease:
Our research so far has already uncovered nearly twenty genes that regulate risk for the development of PD, albeit with modest effect sizes. The work proposed herein aims to refine those results and augment them by performing additional analysis. A comprehensive view of genetic risk in PD will, in the future, allow for an earlier and more accurate diagnosis and, eventually, individually targeted treatment approaches.
Anticipated Outcome:
We expect to be able to answer several questions, among them are: clarifying the reason why certain individuals carrying GBA and LRRK2 mutations do not develop PD; determine if there is an increase in homozygosity in PD compared to controls; determine if copy number variants are associated with PD; clearly define if APOE genotype plays a role in the development of PD.