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BUSM, BMC researchers to investigate genetics of Parkinson’s Disease

Researchers at Boston University School of Medicine and Boston Medical Center joined a larger program sponsored by the Michael J. Fox Foundation Friday to study Parkinson’s disease.

The new addition to the Parkinson’s Progressive Markers Initiative at BU will focus on evaluating people who are at risk of getting Parkinson’s, in addition to those in early stages of the disease already being studied, said Samuel Frank, a principal investigator at BUSM and BMC.

“We are just moving the clock back by looking at people that are at risk, so that we can potentially find better ways of better diagnosis that leads to shorter, faster and, of course, cheaper trials for pharmaceutical companies,” Frank said. “Ultimately, the goal is to find better ways to treat the disease and slow the progression.”

PPMI is a $60 million observational study sponsored by the Michael J. Fox Foundation for Parkinson’s Research, an organization whose mission is to find new therapies, said Director of Clinical Trial Recruitment Strategies at the Michael J. Fox Foundation Claire Meunier.

“PPMI is … aimed at validating biomarkers of Parkinson’s disease,” Meunier said. “A biomarker is a characteristic, substance or process in the body associated with risk, onset or progression of a particular disease. An example of a biomarker would be cholesterol in heart disease. If you have increased cholesterol, you are at an increased risk of developing heart disease.”

Although there are 32 sites around the world conducting this study, BU’s facilities are unique in that they held the capabilities to conduct special procedures, Meunier said.

“[BU is] obviously a critical player in contributing to a truly global effort,” she said. “Scientifically, they had to have the capability to do all the tests and assessments included in the study protocol. There is one imaging procedure in particular included in the study that, when we first launched, was brand new to the market and very few sites were able to do that test. BU was one site that had the machine and capability to do that.”

Meunier said the discovery of a biomarker would effectively change the way the disease is treated.

“Finding a biomarker would really open the floodgates for drug development,” she said. “Such a tool would enable researchers to diagnose the disease earlier, identify new targets for therapeutics and test disease-modifying therapies much faster.”

Although Parkinson’s disease is not inherited, Frank said researching genetic mutations on people who could potentially be at risk for the disease may reveal what traits render a person at a higher risk.

“Parkinson’s Disease in general is not a genetic disease,” Frank said. “However, there are a couple of genetic mutations that put people at a higher risk for developing Parkinson’s Disease, and we are going to follow two of those genetic mutations with people who do not have Parkinson’s disease but who we think that maybe are at risk for it.”

Despite being a highly researched disease, the process of diagnosing Parkinson’s disease has been stalled since its identification, therefore a study looking to alter its diagnosis is essential, Frank said.

“This is really an important study,” he said. “The way we diagnose Parkinson’s disease today is based on the symptoms that people tell us and our physical exam findings. There really is no test. We have not moved forward in terms of diagnosing and tracking Parkinson’s disease compared to 200 years ago when James Parkinson originally described the disease.”

Frank said the efforts of the PPMI have the potential to make great strides in treating and even delaying the effects of Parkinson’s disease.

“If we can slow the progression in people who already have the disease, if we find people who are at higher risk and intervene, we could potentially even delay the disease,” he said. “That is where this is going in the big picture, longer term in the development of treatment for Parkinson’s disease.”

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