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The Parkinson’s Foundation is preparing future leaders in Parkinson's disease (PD) research and care with $1.39 million in funding for fellowships, training and career development awards.

The foundation’s early support has led many young scientists and clinicians to devote their talents to the study of Parkinson’s. It has also made the Parkinson’s Foundation the largest private funder of movement disorders training in the U.S. 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. Understanding the genetics of those who live with Parkinson’s may hold the key to finding a cure. To further our understanding of genetics, in 2012 the Parkinson’s Foundation established 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, a Parkinson’s Foundation Center of Excellence, 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 PD that researchers chemically induce to develop into dopamine A chemical messenger (neurotransmitter) that regulates movement and emotions. neurons — the brain cells that people with PD lose.

Dr. Kuo is studying dopamine neurons derived from skin cells that have a specific change to a gene called GBA (glucocerebrosidase). He wants to determine how changes to this gene affect normal function in the brain and especially how they affect the clumping of alpha-synuclein A protein in the human brain that is associated with the development of Parkinson’s. It is the main component of Lewy bodies. (a protein that causes PD). Past studies in rats have shown that changes to the GBA gene Provides instructions for making an enzyme called beta-glucocerebrosidase. Mutations in the GBA gene can cause Gaucher disease and increase risk for Parkinson’s and parkinsonism. GBA-associated Parkinson’s often develops at a younger age and may cause more significant cognitive impairment. 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 could 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 conventional in-person medical care?

Investigators led by E. Ray Dorsey, M.D., M.B.A., at Johns Hopkins Medicine, a Parkinson’s Foundation Center of Excellence, and including Parkinson’s Foundation Summer Fellow Benjamin George, 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. Although the number of participants in this study was small, the results offer 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.

While the University of Rochester operates a telemedicine program that provides free care to people with Parkinson’s in the state of New York, technology and reimbursement issues and federal rules requiring that doctors and their patients must be in the same state must be resolved before telemedicine becomes a widespread reality.

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