Drug Discovery for Parkinson's With Mutations in the GBA Gene

Researchers at the New York Stem Cell Foundation (NYSCF) Research Institute study diverse diseases, conditions, and traits by creating stem cells from biological samples. These "pluripotent" stem cells can become any cell in the human body, including cells that may be difficult, invasive, or impossible to obtain directly.

Additionally, researchers perform genetic testing to learn more about DNA, a material in most cells that contains instructions for the body's development and functions (such as traits like eye color and risk of certain diseases). A piece of DNA that determines the specific role of a cell is called a "gene." If the instructions in a gene are abnormal, this can lead to disease.

Participation in the study involves: (1) completion of health questionnaires, (2) providing a skin and/or blood sample from which stem cells may be created, (3) collection of a saliva sample for genetic analysis, and (4) possible future follow-up to provide additional information or learn about other research studies.

This study is not a clinical trial.

Inclusion criteria

• Age 18 years or older.
• Diagnosis of Parkinson's disease, Gaucher disease, or healthy control.
• Must provide written informed consent unless physical limitations preclude signing.

Exclusion criteria

• For skin samples collected specifically for this study: history of keloid formation, coagulation disorder, allergy to the anesthetic, or anticoagulation use that precludes sample collection.
• For blood samples collected specifically for this study: coagulation disorder or other medical condition(s) that increases the risks associated with blood collection.
• For all prospective sample collections: Subjects who refuse to adhere to NYSCF's and/or a collection site's safety protocols will be excluded. Subjects with an AIDS diagnosis and CD4 count of less than 200 cells per microliter (mcL) of blood will be excluded due to increased risk of infection.