When telephone lines go down, or Internet connections are lost, our communities temporarily come to a halt. What if something similar were found to be happening in Parkinson's? This is the focus of Dr. Schmitz and her team at the PDF Research Center at Columbia University Medical Center.
PDF Grant Programs
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2009 Research Highlights
In fiscal year 2009, PDF is funding nearly $5 million of Parkinson’s research. Here are some exciting highlights from these projects.
Your Dollars at Work: Highlights from 2009
- Scientists Discover Most Common Genetic Risk Factor for PD: Lorraine Clark, Ph.D., and Karen Marder, M.D., two scientists supported through PDF’s center grant to Columbia University, collaborated with a team led by Ellen Sidransky, M.D., of the National Human Genome Research Institute to create one of the largest clinical investigations of the genetics of Parkinson’s ever undertaken. The study, recently published in the prestigious New England Journal of Medicine, showed that people who carry a mutation in a gene known as GBA have a significantly increased risk - almost five-fold - for developing Parkinson’s. (Mutations in the GBA gene have been shown to cause Gaucher’s disease.) This makes the newly identified genetic risk factor, among the dozen known to scientists, the most common one found for PD to date. Mutations in the GBA gene most likely increase susceptibility to PD, which combined with other factors, results in disease. The mechanisms by which this happens are not understood and require further research.
- New Tool Will Improve Testing of New Treatments: In PDF-funded labs at Cornell Weill Medical Center and Columbia University, Flint Beal, M.D., and Robert Burke, M.D., have made progress in finding a new and powerful tool for testing new Parkinson’s therapies and studying the underlying causes of the disease. Working with Chenjian Li, Ph.D., at Weill Medical College and Tinmarla Francis Oo at Columbia University, Drs. Beal and Burke have created a unique “mouse model” that expresses a mutated form of the LRRK2 gene – the gene most commonly implicated in PD. Their results were published this year in Nature Neuroscience. Their model will help scientists to test new Parkinson’s treatments in the lab. Prior to this development, progress in Parkinson’s had been hampered because scientists did not have a model that accurately mimicked the natural course of PD in humans.
- Scientists Look to Slow Parkinson’s: Scientists at Massachusetts General Hospital are also looking for ways alter the course of the disease – specifically, how to slow it down. Through a PDF grant to the Parkinson Study Group, Michael Schwarzschild, M.D., Ph.D., and his colleagues have been testing the hypothesis that PD risk and rate of progression of PD decline with increasing concentrations of urate, a naturally produced antioxidant, in the body. Using data from a 20-year old landmark study of almost 600 people with Parkinson’s, Dr. Schwarzchild found that there is indeed a strong correlation between high urate levels in the blood and the lowered risk and slower progression of PD. He and his colleagues published their results recently in the Archives of Neurology. This result is important because it continues to substantiate the rationale for conducting a clinical study in humans to raise the concentration of urate in the body in the hope of altering and slowing the progression of PD.