Study Rationale:
Several genes are known to be associated with Parkinson’s disease, although how they impact the disease process is not fully understood. Here we will use stem cells from patients in whom the genetic cause is known and perform mechanistic studies to elucidate the interactions between three key genes and how they impact the function of cells in the brain.
Hypothesis:
This project will provide new insights into the role specific gene mutations play in the development of disease features in cell types know to be affected in Parkinson’s disease.
Study Design:
Stem cells generated from patients with neurological disease, including Parkinson’s disease, provide a tool for us to study and understand mechanisms underlying the disease. One limitation of this approach is that the cells are maintained in culture dishes in the laboratory in an artificial environment that does not closely model that of the disease. This project proposes a unique approach involving the transplantation of the human cells into mice in order to study them in the living brain and thus reveal new insights into disease mechanisms.
Impact on Diagnosis/Treatment of Parkinson’s Disease:
Our ability to design better treatments for Parkinson’s is directly related to our level of understanding on the basic biological processes governing the initiation of the disease process and how the disease progresses from that point onward. This information is critical in efforts to intervene with the disease process.
Next Steps for Development:
The results of these studies will provide us with a powerful platform to identify new targets for novel treatments. This would be the substrate for new clinical trials with the ambition to validate disease-modifying treatments in patients with Parkinson’s disease.