The chief scientific officer of the Parkinson’s Foundation discussed what has previously been observed in genetic Parkinson disease and what gaps the PD GENEration initiative may fill.
"We think, and I hope, that individuals who have genetic forms of PD will be able to pave the way with new therapies which can then help the broad community.”
Alongside the launch of the PD GENEration: Mapping the Future of Parkinson’s Disease initiative in 2019, the Parkinson’s Foundation conducted a pilot study which featured 300 individuals with Parkinson disease (PD). Results of the study demonstrated that around 17% of patients with PD have a genetic form of the disease, refuting previous scientific consensus estimates that were closer to only 10%.
The need for genetic testing for and greater understanding of this patient population has been documented but held back due to barriers placed by limitations of insurance coverage. According to James Beck, PhD, there are numerous unmet needs driven by knowledge gaps around the role of genetics in patients with PD. He compared learning more about genetic PD to the development of statins, which became helpful treatments for people with high cholesterol after clinicians gained a better understanding of an incredibly rare form of genetically high cholesterol called familial hypercholesterolemia.
Beck, who currently serves as the chief scientific officer of the Parkinson’s Foundation, sat down with NeurologyLive to provide background on the current understanding of the role genetics play in PD and where improvements in knowledge gaps need to be made.