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Funded Studies

Searching for the Cause of Parkinson’s Disease in People with GBA Mutations

Study Rationale:
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 Parkinson’s 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 Gaucher’s 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 cell’s genetic material that determine whether GBA mutations lead to PD.

Study Design:
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 Gaucher’s 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 Parkinson’s disease:
Knowing the exact DNA features that determine whether Parkinson’s 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 Parkinson’s disease.


  • Tatiana Foroud, PhD

    Indianapolis, IN United States

  • Clemens Scherzer, MD

    Boston, MA United States

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