Individuals with Gaucher disease and those with Parkinson’s disease can share a common link: mutations in the GBA gene. Identifying and evaluating people who carry a GBA mutation, whether they have Gaucher disease or PD or are related to someone living with one of these diseases, is vital to helping scientists learn more and develop improved treatments.
The Parkinson’s Progression Markers Initiative (PPMI) is a landmark clinical study sponsored by The Michael J. Fox Foundation to better understand the progression of and risk factors for PD. PPMI is currently studying the connection between PD and mutations in the GBA gene.
It’s All in the Family: How We Can Use our Heritage to Find a Cure for Parkinson’s Disease
By: Barbara Robinson, MD
I’ve inherited many cherished heirlooms and traditions from my family – my grandmother’s candlesticks, my mother’s opal pendant and a collection of holiday recipes. As a physician, I’m keenly aware of one more inheritance: my genes.
It’s in Our Blood
Studies show that Ashkenazi Jews can trace their ancestry to just 350 individuals, which has created genetic similarities so acute that, according to scientists, “everyone is a 30th cousin.” (Read more about the Founder Effect in our latest blog.)
With gene mutations passed from generation to generation, Ashkenazi Jews are more likely to carry genetic variants that increase risk of certain conditions, including Parkinson’s disease. This unique ancestry presents a treasure trove of data for researchers, and a powerful opportunity to improve the kind of disease mapping that can speed cures.
I don’t have Parkinson’s myself but am a daughter, daughter-in-law and sister to individuals diagnosed with the disease – and I know too well the difficulty and frustration that Parkinson’s causes millions of people and their loved ones, especially since the disease has no cure.
The More You Know
Given my family history and Ashkenazi Jewish descent, I wanted to know my genetic status. I learned that I carry mutations in both my LRRK2 and GBA1 genes, which are each associated with increased risk for Parkinson’s. My husband Jay also carries a mutation in the GBA1 gene.
So, we set out to do everything in our power to learn more about Parkinson’s and test therapies to stop its progression. Together, we enrolled in the Parkinson’s Progression Markers Initiative (PPMI), a study sponsored by The Michael J. Fox Foundation, to share our data and biosamples to help scientists learn more about this disease and, most importantly, speed research that may lead to cures.
It’s Up to Us
PPMI is looking for people of Ashkenazi Jewish descent who themselves have either Parkinson’s or Gaucher’s disease (given a GBA1 connection) or have a first-degree relative who does. PPMI is enrolling people with a mutation in the LRRK2 or GBA1 gene and provides free genetic testing and counseling.
Jay and I support the study by participating in imaging tests and clinical exams. We each contribute biosamples of blood and spinal fluid on an annual basis. We’ve made this commitment because we know the only way we’re going to fight this disease is with knowledge, and this kind of data is our best hope for unlocking the key to new therapies. If we’re not willing to volunteer that data, then nothing is ever going to change. I hope you’ll join us.
Take a short quiz at www.michaeljfox.org/genetics or call 888-830-6299 to learn more about the PPMI study.
Dr. Barbara Robinson is an obstetrician-gynecologist who lives outside Chicago.