Searching for the Cause of Parkinsonís Disease in People with GBA Mutations
Research Grant, 2017
The GBA gene is responsible for the production of beta-glucocerebrosidase, an enzyme that breaks down fats. Scientists are starting to recognize changes, or mutations, in the GBA gene as a previously unknown cause of some Parkinsonís disease (PD) cases. Many healthy people also have a mutation in this gene but do not go on to develop PD. Mutations in this gene that make the enzyme completely dysfunctional also can cause Gaucherís disease.
Within the scope of this planning project, we will set the stage for a large, international, collaborative study to identify specific features of the cellís genetic material that determine whether GBA mutations lead to PD.
During the planning stage, we will identify suitable people and biobanks -- collections of biosamples -- to participate in this study. We also will prepare to work with clinics treating individuals with Gaucherís disease. Our aim is to identify people with a GBA mutation who may be willing to participate in the study. Based on the information gathered and the number of people projected to enroll in the study, we will prepare a detailed research plan.
Impact on Diagnosis/Treatment of Parkinsonís disease:
Knowing the exact DNA features that determine whether Parkinsonís manifests in people with GBA mutations could be valuable in developing new PD therapies.
Next Steps for Development:
After successfully completing this preparatory work, we will conduct a large study to identify specific features of DNA that determine whether GBA mutations cause Parkinsonís disease.
Chair, Department of Medical and Molecular Genetics at Indiana University
Location: Indianapolis, Indiana, United States
Head of the Neurogenomics Lab and the Parkinson Personalized Medicine Initiative at Harvard and Brigham and Womenís Hospital
Associate Professor of Neurology at Harvard Medical School
Location: Boston, Massachusetts, United States