Funded Studies
Study Rationale: Both genetic mutations and exposure to environmental factors contribute to Parkinson’s disease (PD). Genetic risk for someone with PD could be due to multiple genes, different types of mutations or even one mutation in a single gene. We have developed novel computational tools that enable us to discover several new types of mutations and other genetic signs of PD in a person’s DNA. We will leverage these unique tools to investigate the expansion of repetitive nucleotide sequences, or “repeat expansions”—a new source of mutations that we have already shown to cause diseases similar to PD.
Hypothesis: We will investigate whether repeat expansions play a role in causing PD. We will also develop a new way to measure the ability of a person’s body to generate energy, a metabolic marker for people with PD.
Study Design: With our expertise in identifying repeat expansions and analyzing enormous data sets, we have previously used whole-genome sequencing methods to discover novel repeat expansions associated with other genetic disorders. Given that the role of repeat expansions in PD remains unknown, this study will analyze genomic data from several thousand individuals with PD to investigate the contribution of repeat expansions to genetic risk for PD. We will also investigate a novel method to measure the body’s ability to generate energy, a function that is diminished in people with PD.
Impact on Diagnosis/Treatment of Parkinson’s disease: By identifying new genes and mutations that are disrupted in individuals with PD, we are unveiling novel targets for personalized PD therapies. We will also identify new PD biomarkers that could be used to monitor disease progression and stratify patients in clinical trials.
Next Steps for Development: The discovery of new genes and mutations will lead to novel, targeted treatments for subsets of people with PD. Furthermore, early diagnosis of individuals with a lessened capacity for energy production could lead to therapies that increase metabolism, thereby leading to a better quality of life for people with PD.