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Funded Studies

Illuminating the Dark Genome of Parkinson’s Disease

Study Rationale:
Over the past two decades, the discovery of dozens of genes involved in Parkinson’s disease (PD) has provided a tremendous opportunity to better understand how the disorder develops. However, the discovery of new genes has far outpaced our progress in understanding their roles in PD. While the research community has focused on a handful of “popular” PD genes, many remain underexplored. With the advent of new technologies for editing genes and for producing neurons derived from the cells of individuals with PD, we propose to study these more mysterious genes — a collection we refer to as the “PD Dark Genome.”

Hypothesis:
Our hypothesis is that by focusing on PD genes that have been less studied, we will drive a change in the way that PD research is conducted, leading to a better understanding of how PD develops and to the discovery of new therapeutic targets.

Study Design:
As a proof of concept, we propose to characterize six lesser-studied PD genes in human neurons derived from the cells of people with PD. We will determine whether these genes act within well-known molecular pathways or whether they represent new mechanisms underlying the development of PD. These studies will produce a biological signature for each profiled gene, confirming whether these genes are involved in PD and what roles they may play in PD pathogenesis.

Impact on Diagnosis/Treatment of Parkinson’s Disease:
For years, the pharmaceutical industry has targeted the same set of PD genes, with little success. Because the cost of drug development is so high, genes that are less studied are deemed too risky. We hope that our work will minimize this perceived risk and accelerate novel treatments for PD.

Next Steps for Development:
We propose to design a pipeline and workflow that can be distributed beyond our own center and employed by other labs interested in lending their complementary expertise to the characterization of understudied PD genes.


Researchers

  • Edward A. Fon, MD, FRCP(C)

    Montreal QC Canada


  • Ziv Gan-Or, MD, PhD

    Montreal QC Canada


  • Thomas M. Durcan, PhD

    Montreal Canada


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