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Funded Studies

Dissecting Genetic Interactions of Parkinson’s Disease-associated Risk Loci

Study Rationale:
Parkinson’s disease can have multiple complex causes, including genetic and environmental, that are not fully understood. We will combine modern genetic and human stem cell-based approaches to determine how heritable genetic changes affect Parkinson’s disease predisposition. By identifying how even small genetic changes can compound the risk of developing Parkinson’s disease, we hope to identify new ways to detect and treat the disease in the future.

We hypothesize that combining complex human cell culture models such as 3-dimensional brain organoids with sophisticated genome-scale functional analysis will allow us to elucidate how diverse genetic factors interact and contribute to the risk of developing Parkinson’s disease; thereby informing the development of early detection diagnostics and advanced treatment options.

Study Design:
We will genetically engineer human embryonic stem cells to model the genetic alterations known to increase risk for Parkinson’s disease and turn those cells into disease-relevant cell types such as dopamine neurons. By profiling the gene expression changes caused by these known Parkinson’s disease risk variants, we will decipher the key molecular signatures that contribute to Parkinson’s disease. Once identified, we will confirm these genetic signatures in patient samples and validate their effects in animal models.

Impact on Diagnosis/Treatment of Parkinson’s Disease:
Elucidating how Parkinson’s disease genetic risk variants affect cell biology has promise to identify disease-specific biomarkers and novel treatment options.


  • Donald Rio, PhD

    Berkeley, CA United States

  • Helen S. Bateup, PhD

    Berkeley, CA United States

  • Luke Gilbert, PhD

    San Francisco, CA United States

  • Dirk Hockemeyer, PhD

    Berkeley, CA United States

  • Frank Soldner, MD

    Bronx, NY United States

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