Participate in PPMI: Focus on Genetics
Over the past decade, studies of the genetics of Parkinson's disease (PD) have revolutionized the pursuit of a "disease-modifying" treatment -- a therapy that can slow or stop the progression of PD. Studying the genetics of people with Parkinson's and their families will help test these therapies faster and, perhaps, identify new ways to treat this disease. Though few people get Parkinson's directly from a genetic mutation, what researchers learn from the biology of people with these mutations could lead to new therapies that could help all those with the disease.
The Parkinson's Progression Markers Initiative (PPMI) is currently studying the connection between PD and mutations in the LRRK2 or GBA gene, two promising targets of PD research.
Individuals from certain ethnic groups are more likely to carry a mutation in LRRK2 or GBA. In addition, people with Gaucher disease have two copies of the GBA mutation, and their family members may have one.
Have you been tested?
If you know you have a LRRK2 or GBA mutation:
NEVER BEEN GENETICALLY TESTED?
You may be eligible to receive genetic counseling and testing at no cost to determine if you qualify to participate in PPMI.
PPMI is seeking individuals of Eastern European (Ashkenazi) Jewish ancestry who:
- Have Parkinson's disease (PD)
- Do not have PD but have a first-degree relative with PD and are age 45 or older
- Have Gaucher disease
- Do not have Gaucher disease but have a first-degree relative with Gaucher and are age 45 or older
Mutations in LRRK2 are also more common in people of Basque and North African Berber descent. If you are among these populations and have Parkinson's disease or a first degree relative with PD, call (888) 830-6299 to learn more about participating in PPMI.
PPMI is also studying the connection between Parkinson's and the SNCA gene. If you have been tested and know that you have a mutation in your SNCA gene, call (888) 830-6299 to speak to someone about participating in the study.
Learn more about these genes
What is LRRK2?
Mutations in the LRRK2 gene are the greatest known genetic contributor to Parkinson's disease, accounting for one to two percent of all PD cases, but more in certain ethnic groups. Mutations in this gene cause increased activity of the LRRK2 protein, which modifies other proteins. Scientists are working on understanding how this change may contribute to PD and how they can lower LRRK2 activity to correct dysfunction.
What is GBA?
GBA is another gene associated with Parkinson's disease. Mutations in GBA cause lower levels of the GCase protein, which helps break down fats and other proteins in cells. Studies aim to learn more about this protein's role in PD and how drugs against this target may treat the disease.
What does it mean to have a LRRK2 or GBA mutation?
Not everyone with a LRRK2 or GBA mutation will go on to develop Parkinson's disease. For those who do develop PD, right now information on your genetics will not change the type of care you receive. However, researchers are working on therapies that target one's individual genetics and biology, so that may change in the future. Participating in genetics research can help speed that process and develop personalized therapies that may slow or stop PD.
Learn more about the PPMI genetic testing process
Take the Survey: Take PPMI's brief online survey to find out if you may be eligible to receive genetic counseling and testing for the purposes of PPMI.
Get a Genetic Test: Eligible volunteers may be mailed a genetic testing kit requiring a saliva sample to determine whether or not there is a mutation in your LRRK2 or GBA gene. Your saliva sample is sent to a central laboratory for testing.
Talk with a Genetic Counselor: You will be contacted by a genetic counselor to review your test results together. You will also discuss your personal and family medical history and the genetics of Parkinson's disease. Some volunteers may be invited to participate in additional tests and evaluations.
If you are interested in receiving free genetic counseling and testing for the LRRK2 and GBA mutations for the purposes of participating in PPMI, fill out our questionnaire or call (888) 830-6299.
|PPMI Clinical Sites|
|City/State||Site Name||Local Site Phone Number|
|Athens, Greece||Attikon University Hospital||+30 2105832493|
|Atlanta, GA||Emory University||404-728-6944|
|Barcelona, Spain||Hospital Clinic de Barcelona||+34 646699750|
|Baltimore, MD||Johns Hopkins University||410-955-2954|
|Birmingham, AL||University of Alabama at Birmingham||877-836-8108|
|Boca Raton, FL||Parkinson's Disease and Movement Disorders Center of Boca Raton||(561) 392-1818 x 6|
|Boston, MA||Boston University Medical Center||617-638-7737|
|Chicago, IL||Northwestern University||(312) 503-0755|
|Cincinnati, OH||University of Cincinnati||513-558-6517|
|Cleveland, OH||Cleveland Clinic||216-444-1134|
|Houston, TX||Baylor College of Medicine||713-798-3951|
|Innsbruck, Austria||University of Innsbruck||+43 512 504 81553|
|Kassel, Germany||Paracelsus-Elena Klinik||+49 561 6009 272|
|London, UK||Imperial College London||+44 203 311 1714|
|New Haven, CT||Institute of Neurodegenerative Disorders||203-401-4332|
|New York, NY||Columbia University Medical Center||212-305-9183|
|New York, NY||Beth Israel Medical Center||212-844-8713|
|Paris, France||Pitié-Salpêtrière Hospital||+33 1 42 16 57 67|
|Philadelphia, PA||University of Pennsylvania||215-829-7374|
|Portland, OR||Oregon Health Sciences University||503-494-0276|
|Rochester, NY||University of Rochester||585-341-7515|
|Salerno, Italy||University of Salerno||+39 340 519 2659|
|San Diego, CA||University of California at San Diego||858-622-5800|
|San Sebastian, Spain||Hospital Universitario Donostia||+34 943007027|
|Seattle, WA||University of Washington / VA Puget Sound||206-277-5087|
|Sun City, AZ||Banner Sun Health Research Institute||623-832-5468|
|Sunnyvale, CA||The Parkinson's Institute||408-542-5664|
|Sydney, Australia||Macquarie University||+61 298-123-720|
|Tampa, FL||University of South Florida||813-396-0768|
|Tel Aviv, Israel||Tel Aviv Sourasky Medical Center||+972 3-6973014|
|Trondheim, Norway||Norwegian University of Science and Technology||+47 911 08 377|
|Tuebingen, Germany||University of Tuebingen||+49 7071 2983272|
Need more information?
Learn more about PPMI genetics by calling (888) 830-6299.