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."
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
Take a short quiz at www.michaeljfox.org/genetics or
call 888-830-6299 to learn more about the PPMI study.
Talk to your doctor to discuss if participation in medical research is right for you.
Dr. Barbara Robinson
is an obstetrician-gynecologist who lives outside Chicago.