Health

Emory investigating genetics of Parkinson's disease

February 25, 2014

About the Emory Movement Disorders Center

The Emory Movement Disorders Center is a leading treatment and research center for the spectrum of movement disorders, including Parkinson's Disease, dystonia, essential tremor, Huntington's Disease, and Tourette's syndrome. Providing comprehensive services ranging from diagnosis to rehabilitation, our neurosurgeons, neurologists, psychologists and researchers work together to tailor treatment for the specific needs of each patient. The Emory Movement Disorders Center is part of the Emory School of Medicine, globally recognized for medical research and physician training, and Emory Healthcare, one of the nation's leading health care systems. The resources of both institutions enable our physicians and staff to employ the latest innovations for comprehensive treatment of these often debilitating disorders.

About The Michael J. Fox Foundation for Parkinson’s Research

As the world’s largest private funder of Parkinson’s research, The Michael J. Fox Foundation is dedicated to accelerating a cure for Parkinson’s disease and improved therapies for those living with the condition today. The Foundation pursues its goals through an aggressively funded, highly targeted research program coupled with active global engagement of scientists, Parkinson’s patients, business leaders, clinical trial participants, donors and volunteers.  In addition to funding more than $400 million in research to date, the Foundation has fundamentally altered the trajectory of progress toward a cure. Operating at the hub of worldwide Parkinson’s research, the Foundation forges groundbreaking collaborations with industry leaders, academic scientists and government research funders; increases the flow of participants into Parkinson’s disease clinical trials with its online tool, Fox Trial Finder; promotes Parkinson’s awareness through high-profile advocacy, events and outreach; and coordinates the grassroots involvement of thousands of Team Fox members around the world.

Researchers at Emory University School of Medicine will study individuals with genetic mutations associated with Parkinson's disease (PD) as part of the Parkinson's Progression Markers Initiative (PPMI), a large-scale biomarker study sponsored by The Michael J. Fox Foundation for Parkinson's Research. 

As one of one of 32 clinical sites participating in the study, Emory 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 gain from this study 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 Stewart Factor, DO, Director of the Emory Comprehensive Parkinson's Disease Center and director of the Emory Movement Disorders Center at Emory. "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. PPMI is particularly interested in testing individuals of Ashkenazi (Eastern European) Jewish descent with PD or with a relative with the disease. Interested individuals can visit www.michaeljfox.org/ppmi/genetics

Biomarkers — such as cholesterol level for heart disease — are substances, processes or characteristics of the body that communicate disease risk, onset and/or progression. They aid in diagnosis and disease management and help researchers stratify for clinical trials and test new drugs quicker by measuring biological changes rather than waiting for clinical improvement. There are no validated biomarkers for Parkinson's disease, a reality researchers are hoping to change with PPMI.

Launched in 2010, PPMI is a longitudinal clinical study that collects standardized clinical, imaging and biologic data. Now taking place at 32 clinical sites around the world, the study completed initial enrollment of 423 recently diagnosed Parkinson's patients and 196 controls in April 2013. That month PPMI began recruiting individuals with the known Parkinson's risk factors of smell loss and REM sleep behavior disorder.

"In the fourth year of PPMI, it is evident that a large-scale biomarker study is not only possible in Parkinson's disease, but is already yielding scientific insights that could help transform the field of Parkinson's research," said Todd Sherer, PhD, CEO of The Michael J. Fox Foundation. "The exceptional investigators at sites around the world, such as Emory University, have created the infrastructure that allows us to make such strides, by working together."

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