Scientists and people with Parkinson’s join forces to explore genetic risks in Parkinson’s disease
August 23, 2019
More than 200 years ago, British surgeon Dr. James Parkinson penned an essay about “the shaking palsy,” a mysterious disorder that would later come to bear his name.
Since then, our understanding of what we now call Parkinson’s disease has vastly changed. No longer is it considered simply to be a movement disorder. Instead, we now know that it comprises a complex mix of motor and non-motor symptoms, the latter of which may start decades before diagnosis. We also know that, in most cases, it cannot be attributed to a singular cause. Instead, a host of factors — many unique to individual people — are likely at play.
In August, hundreds of scientists, physicians and people with Parkinson’s joined together at the Institute for the Grand Challenges in Parkinson’s Disease symposium and Rallying to the Challenge meeting, co-hosted with The Cure Parkinson’s Trust and Parkinson’s Movement. Both events tackled genetics, one of the factors that contributes to the disease, from its role in Parkinson’s origins to the real-world implications of genetic testing for the families of people with the disease.
“We’ve come a long way in parsing the genetic aspects of Parkinson’s but we still have much more to do in terms of translating this knowledge into actionable prevention or treatment strategies,” said José Brás, Ph.D., an associate professor at Van Andel Institute and co-organizer of this year’s symposium. “Grand Challenges in Parkinson’s Disease and Rallying to the Challenge are invaluable opportunities to unite the research and advocacy communities under one roof to tackle urgent problems and to find ways to work together to beat Parkinson’s.”
More than 90 percent of Parkinson’s cases are sporadic, meaning that there is no singular, currently identifiable cause. Growing evidence suggests that the disease results from a combination of factors that vary from person to person, such as genetics, shifts in how our genetics are regulated (a set of processes called epigenetics) and environmental exposures.
Scientists believe these changes slowly accumulate until they reach a critical point, eventually tipping the scale toward Parkinson’s. The exception to this is the small subset of cases that can be directly linked to changes in specific genes that are passed down through families. It is important to note; however, that having a mutation in one of these genes does not always mean a person will get Parkinson’s.
“Understanding the role genetics plays in Parkinson’s is a daunting task but the benefits are undeniable,” said Rita Guerreiro, Ph.D., an associate professor at Van Andel Institute and Grand Challenges in Parkinson’s Disease co-organizer. “For years, this symposium and the Rallying to the Challenge meeting have served as important forums to bring together critical viewpoints necessary to make tangible progress.”
At Grand Challenges in Parkinson’s Disease, scientists took a deep dive into many of the emerging areas of genetic research in Parkinson’s. Participants explored whether sporadic and familial Parkinson’s should be considered to be the same disease, how a rare genetic disorder is helping untangle the genetic contributors to Parkinson’s and how genetic features of the disease may be used to inform clinical trials that test potential therapies.
The collaborative spirit of Grand Challenges in Parkinson’s Disease and Rallying to the Challenge underscores the importance team science and inclusion of people with Parkinson’s in the process. They also reaffirm our shared commitment to an overarching goal — to improve the lives of people with Parkinson’s and drive progress toward a cure.
Ellen Sidransky, M.D., National Human Genome Research Institute, National Institutes of Health
Jay Van Andel Award for Outstanding Achievement in Parkinson’s Research
Dr. Sidransky was the first to link an increase in Parkinson’s disease risk to mutations in the gene GBA, which produces an enzyme that breaks down a common lipid located in lysosomes, cells’ internal waste removal systems. Alterations in GBA are now known to be the most common genetic risk factor for Parkinson’s and dementia with Lewy bodies, and is a major target for new experimental medications designed to slow or stop progression, a feat not possible with current treatments. The Jay Van Andel Award honors scientists who have made transformative contributions to the field. Read more here and check out our Q&A with Dr. Sidransky here.
Tilo Kunath, Ph.D., University of Edinburgh
Tom Isaacs Award
Dr. Kunath made headlines for his work with advocate Dr. Joy Milne and her ability to detect Parkinson’s disease by scent. Milne noticed her late husband’s scent changed around 12 years before his diagnosis with Parkinson’s. Later, while at a research meeting with many people with Parkinson’s in attendance, she noticed many of them carried a similar scent. She reported this to Kunath, who pursued this idea further and has since worked alongside Milne, Perdita Barran, Ph.D., of the University of Manchester and a team of researchers to isolate several substances in the skin that signal Parkinson’s, opening potential new avenues for earlier diagnosis and, hopefully one day, therapeutic intervention. Kunath’s empathy, enthusiastic engagement with the Parkinson’s community and willingness to share his knowledge were central to his nomination and subsequent selection the 2019 honoree. The Tom Isaacs Award is jointly presented by Van Andel Institute and The Cure Parkinson’s Trust in memory of Trust co-founder and champion of the Parkinson’s community, Tom Isaacs. Read more here.
Mark your calendars! Next year’s symposium and meeting will be held September 23 — 24, 2020.