What can we learn by studying genetics and Parkinson's? PDF-funded researchers Drs. Mata and Zabetian share their progress six years after launching the first large-scale survey of PD genetics in Latin America.
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Connie Marras, M.D., Ph.D.
This article originally appeared in the Fall 2009 edition of PDF's quarterly newsletter, News & Review.
One of the newer initiatives of the Parkinson’s Disease Foundation (PDF) research program is the Mentored Research Award that has been conferred annually for the past five years through the Parkinson Study Group (PSG), a nonprofit, cooperative group of experts from medical centers in the United States and Canada who are dedicated to conducting Parkinson’s disease (PD) clinical trials.
The awardees of this program, such as Connie Marras, M.D., Ph.D., extend PDF’s research focus to include “patient-centered research,” or clinical research. This type of research is needed to bring new and more effective treatments to market.
During Dr. Marras’ PDF-funded research year in 2005, she and mentor Anthony Lang M.D., F.R.C.P.C., at the Toronto Western Hospital Movement Disorders Centre, prepared to launch an observational study looking at several large families with a mutation in the LRRK2 gene — one of the few genes known to cause Parkinson’s disease.
Dr. Marras performed the groundwork for the study and since its inception has studied over 91 people — some with Parkinson’s disease and some without it — whose families are affected by the gene mutation.
This study is ongoing, because, as Dr. Marras notes, “observational studies” of this type — that is, studies that look at populations, not at new treatments — and genetic studies in particular — are vital for the development of new therapies for Parkinson’s disease. The discovery of LRRK2 has given scientists a chance to study an at-risk population, including family members who do not have Parkinson’s. Researchers can assess whether these family members show any signs that predict they will eventually develop the disease or, if they do not develop it, determine whether they have a protective factor.
Such a discovery could lead to new interventions to slow the progress of PD. Dr. Marras says that this is the ultimate goal of the study, although it will not be achieved immediately.
Today, Dr. Marras continues the LRRK2 study that the PDF-PSG grant enabled her to launch. She also treats people living with Parkinson’s and is part of several other patient-centered studies — including those studying environmental risk factors — as part of her continued quest to understand the disease and deliver therapies more quickly to those living with it.
As she notes, “We’re at an exciting point. One great unmet need is improving our understanding of Parkinson’s, particularly its underlying causes. We think there are contributions to PD of a genetic nature, but there are also environmental factors that have been shown to influence its development. Studying both of these creates a great opportunity to untangle Parkinson’s disease.”
Dr. Marras is Assistant Professor of Neurology at the University of Toronto. The PDF-PSG Mentored Research Award was funded through PDF’s Advancing Parkinson’s Therapies Innovations Grant, which, in FY 2010, totaled $175,000.