Study Rationale: We will study “allele-specific expression” to understand how DNA variants relevant to Parkinson’s disease impact the expression of genes. By looking in each cell, we can check whether there is an imbalance in expression of each gene between the two copies (one from the mother, one from the father). We can then deduce which DNA variant may be causing the imbalance. We will build an improved version of this method, run it on all available Parkinson’s disease human datasets, and combine the results to better understand the disease.
Hypothesis: We aim to better understand genetic variation associated with Parkinson’s by using allele-specific expression analysis with existing Parkinson’s related expression (RNA) datasets.
Study Design: We will build a tool in the cloud that, for each Parkinson’s disease expression (RNA) dataset, will identify genetic variants affecting “allele-specific expression” (described above). We will then run this tool on available datasets and collate the results to achieve a better understanding of the genetics of Parkinson’s disease.
Impact on Diagnosis/Treatment of Parkinson’s disease: This project will give insight into how genetic variants that are tied to Parkinson’s risk impact how different cell types make use of different genes. This understanding can give insight into the molecular mechanisms underlying the genetics of Parkinson’s disease, and, potentially, point towards new therapeutic directions.
Next Steps for Development:bThe next step would be to explore the genes identified by this study and look for ones that might be targets for drug development, since it is known that drugs targeting genes with genetic evidence behind them are much more likely to succeed in the clinic.