Jon Gilman, 31, a software engineer in Boston, is passionate about health and fitness. He runs. He bikes. He practices yoga. And he uses apps to track his physical activity. Motivated to learn more about how his body works using data science, Jon decided to get genetically tested. Upon receiving the results, he was surprised to learn he has a genetic mutation that puts him at increased risk for developing Parkinson’s disease.
While Jon doesn’t have Parkinson’s and may never be diagnosed with it, and no one in his family has it, he learned that his specific genetic mutation is more prevalent in certain ethnic populations, particularly those of Ashkenazi, Jewish, North African and Basque descent, than in the general population. Each year approximately 60,000 people in the U.S. are diagnosed with Parkinson’s disease, a chronic, degenerative brain disorder second only to Alzheimer’s in prevalence. The cause is unknown, but most researchers believe a combination of genetics and environmental factors can increase (or decrease) risk. As is the case in many brain diseases, no cure has yet been found for Parkinson’s; people who are diagnosed face an inexorable worsening of symptoms over time.
The Parkinson’s Progression Markers Initiative (PPMI) is The Michael J. Fox Foundation’s flagship global biomarker study seeking insights into the causes, onset and progression of Parkinson’s disease. The study is expanding its genetics arm in several cities around the country, as researchers work to decode the genetic and molecular underpinnings of the disease and why some people with certain genetic mutations develop Parkinson’s while others do not. Clinical studies like this one could help speed the development of new therapies benefiting all Parkinson’s patients, and ultimately find a cure.
Michael J. Fox recently took part in a panel discussion marking the launch of the PPMI genetics study in New York City, which was attended by over 250 people.
Jon joined me recently to talk about how his increased genetic risk for Parkinson’s has inspired him to participate in clinical research and how this research can have an impact on others. Dr. Tatiana Foroud, director of Hereditary Diseases and Family Studies in the Department of Medical and Molecular Genetics at Indiana University, was alongside him to raise awareness on the importance of participating in clinical trials and how anyone can get involved.
Take a look at the interview below:
And for more information about genetic testing for Parkinson’s disease, visit the Michael J Fox Foundation website at: