Jon Gilman, a software engineer in Boston, is into health and fitness. He runs. He bikes. He practices yoga. And he uses apps to track all of his physical activity. He even worked for the developer of an app called RunKeeper, which turns a smartphone into a digital personal trainer.
Motivated to learn more about how his body works using data science, Gilman decided to be genetically tested earlier this year through 23andMe, the personal genetics company founded by longtime Foundation supporter Anne Wojcicki. Reading through the analysis of roughly one million letters of his DNA, Gilman wasnít surprised to discover that he has a gene commonly found in sprinters. More surprising was the revelation that he carries a mutation in his LRRK2 gene ó linked to more cases of Parkinsonís disease than any other gene discovered to date.
ďThereís no history of Parkinsonís disease in my family. I didnít know what to think about it at first,Ē he recalls. Uncertain what the news meant for his health, he did what any rational person would do ó he took to Google.
LRRK2 is of interest to pharmaceutical companies as a promising drug target in Parkinsonís. The gene is a kinase, which means it functions as a kind of on/off switch inside body cells. Drug-makers have a lot of experience with kinases, primarily from years of cancer research, which could benefit the process of developing drugs to target kinases implicated in other diseases.
While only a small percentage of individual Parkinsonís cases are caused by genes, studying them can benefit everyone living with the disease. Even rare mutations provide a window on critical cellular events that may also take place in non-genetic cases of disease. Looking through that window can point researchers in the direction of new treatments. This kind of information is what Gilman found when his Google search led him to the MJFF website.
ďI quickly learned there were a lot of ways to be proactive,Ē he said.
With the facts in hand, he made a decision. He would keep running and biking and tracking all of his physical activity. But along with his heart rate, blood pressure and number of miles covered, he would include another set of numbers ó dollars for Parkinsonís research.
This fall Gilman and his wife, Cara, will run the Bank of America Chicago Marathon for Team Fox. He also participated in the Team Fox event Pedal for Parkinsonís in April. But he didnít just stick to his athletic comfort zone. He joined the Team Fox Young Professionals of Boston and signed up to participate in the MJFF-funded Parkinsonís Progression Markers Initiative (PPMI), the Foundationís landmark biomarker study that launched a new arm to investigate genetic traits associated with the onset and progression of PD. Gilman had an initial screening in July and has officially enrolled.
†ďThroughout the process, I just felt good contributing to something bigger than myself, hoping that I can play a small part in finding a cure for Parkinson's,Ē Gilman explains. ďAnd thatís true of my whole experience with the Foundation. The more we can do to raise money and awareness now, the better chance weíll have of finding a cure.Ē
Read about how others are getting involved in the pursuit of a cure in the fall 2014 edition of The Fox Focus.