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Michael J. Fox Foundation Announces Support for LRRK2 Cohort Studies in Ashkenazi Jews and North-African Arab-Berbers

NEW YORK, NY —The Michael J. Fox Foundation for Parkinson’s Research today announced $5.2 million in support for two studies defining the clinical presentation of Parkinson’s disease in two specific populations — Ashkenazi Jews and North African Arab-Berbers — in which mutations in the LRRK2 gene are associated with a significantly increased risk of Parkinson’s disease. Mutations in the LRRK2 gene in these groups are linked to an estimated 13 to 40 percent of Parkinson’s cases, compared with an estimated one to two percent in the general population. By studying these uniquely affected groups, researchers will be able to tie outward clinical features of the disease to underlying biological and genetic processes, providing critical clues about how best to clinically test future therapeutics targeting LRRK2.

A team of investigators from the Mayo Clinic, Jacksonville, and the Institute of Neurology in Tunis will study an Arab-Berber cohort in Tunisia. A second group, led by investigators at Beth Israel Medical Center, Columbia University, Tel Aviv University and the Institute for Neurodegenerative Disorders will evaluate Ashkenazi Jewish populations in New York and in Tel Aviv, Israel.

Together, the LRRK2 cohort studies will collect clinical, genetic and olfactory information from nearly 4,000 individuals with LRRK2 mutations, including people who have PD as well as family members who may carry the mutations but not have the disease. In the New York/Tel Aviv cohort, biomarker and imaging data also will be collected. The researchers will have the unprecedented opportunity to study the onset and early progression of PD by evaluating asymptomatic people with LRRK2 mutations who may later develop PD.

To ensure that all data collected can be analyzed, shared and compared as efficiently and meaningfully as possible, MJFF is working with the research teams to standardize collection methods used in both cohorts.

First implicated in PD in 2004, LRRK2 mutations are now believed to be the most common genetic contribution to the disease. To streamline research on LRRK2, MJFF is carrying out a broad and integrated strategy to drive critical LRRK2-related initiatives at every stage of therapeutic development. The studies announced today are part of this broader effort, which includes dedicated funding for discovery, pre-clinical and clinical work around LRRK2, and which is made possible through the leadership support of the Brin Foundation. 

“While LRRK2 has been the focus of intense research activity since its relatively recent discovery, our Foundation sees a need and opportunity to streamline and centralize efforts to characterize the gene and its role in PD,” said Katie Hood, CEO of MJFF. “By studying these uniquely affected populations, and standardizing data collection, our goal is to make drug development efforts centered on LRRK2 more efficient and ultimately speed patient-relevant outcomes from this work.”

Although clear instances of genetically caused PD explain only a relatively small number of all PD cases, genetic findings hold potential to open new avenues of research that will benefit all patients with the disease. Including the studies announced today, MJFF has invested about $16 million to date in LRRK2 drug development efforts, a figure expected to rise to approximately $19 million by year end 2009.

Susan Bressman, MD, Chair of the Department of Neurology at Beth Israel Medical Center and coordinating principal investigator for the New York/Tel Aviv LRRK2 cohort, presented the study at MJFF’s Third Annual PD Therapeutics Conference, held in New York City on September 30, 2009. Video of Dr. Bressman’s presentation, as well as other selected speakers, is available at

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