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.
PDF Grant Programs
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Results: Fellowship and Career Development Grants
PDF is preparing future leaders in Parkinson's research and care with $1.39 million in funding for fellowships, training and career development awards.
PDF's early support has led many young scientists and clinicians to devote their talents to the study of Parkinson’s disease. It has also made PDF the largest private funder of movement disorders training in the US — we have supported training for more than one hundred young neurologists to become specialists who can both care for people with Parkinson’s and conduct the clinical research to speed new treatments.
Highlight: Sheng-Han Kuo, M.D.: Using Genetics to Find New Treatments
Genes, in ways still unknown, contribute significantly to the risk of Parkinson’s disease. Understanding the genetics of those who live with Parkinson’s disease may hold the key to finding a cure. To further our understanding of genetics, PDF established in 2012 the Lucien Côté Early Investigator Award in Clinical Genetics, which supports postdoctoral researchers and junior faculty in the New York City metropolitan area who are studying the genetics of Parkinson’s.
One of the first recipients of this award was Sheng-Han Kuo, M.D., of Columbia University Medical Center, who is using induced pluripotent stem cells (iPS cells) to study how changes, or mutations, to certain genes may cause PD. iPS cells are skin cells from people with Parkinson’s disease that have been chemically induced to develop into dopamine neurons, which are the cells that are lost in the brains of people with PD.
Dr. Kuo is studying dopamine neurons derived from skin cells that have a specific change to a gene called GBA (the full name is glucocerebrosidase). He wants to determine how changes to this gene affect normal function in the brain, especially how they affect the clumping of alpha-synuclein (a protein that causes PD). Past studies in rats have shown that changes to the GBA gene do cause clumping of alpha-synuclein in the brain.
Now the goal is to see if this clumping also occurs in human brain cells containing the GBA mutation, and the mechanisms by which this happens. This knowledge may potentially lead to the development of new PD treatments.
Highlight: Benjamin George: Measuring the Benefit of “Virtual” Office Visits
Could we be returning to the tradition of seeing our doctors at home? This is the concept of telehealth. But how does it compare to con- ventional in-person medical care?
Investigators led by E. Ray Dorsey, M.D., M.B.A., at Johns Hopkins Medicine, and including PDF Summer Fellow Benjamin George, recently found that people with Parkinson’s may benefit from a consultation with a specialist via online video conferencing from home, providing an alternative to traveling to an in-person appointment. These findings appeared in a study published on March 11, 2013, in JAMA Neurology. This study is one of the first to investigate whether telehealth appointments are feasible and beneficial to people with Parkinson’s disease.
Researchers measured the participants’ quality of life and PD symptoms, and found the same results for individuals, regardless of whether they saw a doctor in-person or via video conference. In addition, compared with in-person visits, each "virtual" visit saved participants, on average, 100 miles of travel and three hours of time. Although the number of participants in this study was small, the results provide encouragement that video conferencing with a specialist can provide similar benefits to people with PD as in-person visits, while reducing the time and expense of seeing the doctor.
However, before virtual visits become a reality, researchers must conduct studies with larger numbers of participants, and with participants of more varied socioeconomic backgrounds. In addition, issues surrounding technology and insurance reimbursement and rules in the United States that require doctors and the person being treated to be in the same state, will need to be resolved.