BUSM and BMC Investigating Genetics of Parkinson’s Disease

in Uncategorized
April 3rd, 2014

Parkinson’s Progression Markers Initiative seeks individuals of Ashkenazi Jewish background for study to speed efforts toward a cure

genesResearchers at Boston University School of Medicine (BUSM) along with Boston Medical Center (BMC) will study individuals with genetic mutations associated with Parkinson’s disease (PD) as one of 32 clinical sites of the Parkinson’s Progression Markers Initiative (PPMI), a large-scale biomarker study sponsored by The Michael J. Fox Foundation for Parkinson’s Research.

PPMI will enroll participants with a known mutation of the LRRK or SNCA [alpha-synuclein] gene. Previous research has shown these mutations are associated with Parkinson’s disease, and account for a greater number of PD cases among certain ethnic populations and families, notably the LRRK2 mutation in those of Ashkenazi (Eastern European) Jewish, Basque and North African Berber descent. The insight researchers glean from these research volunteers will fortify current efforts to develop a disease-modifying therapy, something that currently eludes the field.

“Studying individuals with genetic mutations associated with Parkinson’s can accelerate our research toward a PD biomarker and more effective treatments,” said Samuel Frank, MD, principal investigator at BUSM/BMC. “Although known genetic mutations currently account for only five to 10 percent of all Parkinson’s cases, this population can provide invaluable information about the intricacies of the disease for all patients.”

PPMI is studying clinical and imaging data and biological samples of people with a genetic mutation to identify biomarkers and speed clinical trials. PPMI will enroll 250 people with the LRRK2 mutation and Parkinson’s and 250 people with the mutation but without Parkinson’s. Since the SNCA mutation is rarer, the study is recruiting 50 people with Parkinson’s and the mutation and 50 people with the SNCA mutation but without PD. These participants will be followed for five years.

Interested individuals can visit www.michaeljfox.org/ppmi/genetics or call 617-638-7745. PPMI is particularly interested in testing individuals of Ashkenazi (Eastern European) Jewish descent with Parkinson’s or with a relative with the disease. The LRRK2 mutation also accounts for more PD cases in people of North African Arab Berber or Basque descent. Study sites will recruit people with the rarer SNCA mutation through familial connections.