Funded Studies
Study Rationale:
A genetic connection has been shown over the past few years between Parkinson’s and Gaucher’s diseases, such that people with genetic mutations that cause Gaucher’s disease have a higher statistical risk of developing Parkinson’s disease, and some people with Parkinson’s have the genetic mutation that causes Gaucher’s disease. However, at this stage, researchers are unable to explain the molecular connection between these two diseases.
Hypothesis:
Our study tests the hypothesis that there may be common biochemical pathways that link these two diseases. In particular, we will test whether a pathway (the so-called ‘Ripk’ pathway), which we recently discovered to be involved in brain pathology in Gaucher’s disease, is also activated in Parkinson’s disease.
Study Design:
We will do this by a set of biochemical experiments in which we examine components of the Ripk pathway in human brain tissues that we obtained from colleagues in London from people with Parkinson’s disease, Gaucher’s disease, and with both Parkinson’s and Gaucher’s diseases. We will next induce Parkinson’s disease in a pre-clinical model that is defective is some components of the Ripk pathway to determine whether eliminating this pathway improves Parkinson’s symptoms.
Impact on Diagnosis/Treatment of Parkinson’s Disease:
If this approach is successful, it might indicate that drugs targeted to the Ripk pathway could act as novel therapeutic targets for Parkinson’s disease. Although such drugs are not available at the moment, the involvement of the Ripk pathway in a number of other human diseases is stimulating many drug companies to attempt to develop drugs directed to this pathway.
Additional Support:
This project was selected for a Stern Discovery Award with support from the former Michael Stern Parkinson's Research Foundation, which merged with The Michael J. Fox Foundation in 2015.