The Fox Focus 2023 Fall/Winter | Page 12

10 Fox Focus | Research

Newly Identified GBA Variant Increases Parkinson ’ s Risk in People of African Descent

By Jen Fisher Wilson
Analysis of DNA from more than 1,400 people of African descent with Parkinson ’ s revealed a specific genetic change that appears to increase the risk of Parkinson ’ s disease . The newly identified variant lies in the GBA gene . Researchers found it occurred in the African populations they studied but not in others . It could help drive therapies for this underserved community and will contribute to the field ’ s expanding knowledge of Parkinson ’ s genetics .
The finding highlights why research needs to prioritize diversity . Historically , genetic research on PD has focused on individuals of European ancestry , leaving a significant knowledge gap about the disease in other populations .
“ As researchers and clinicians , our shared responsibility is to make sure Parkinson ’ s science is representative of all communities around the world ,” said study author Njideka Okubadejo , MD , professor of neurology at the University of Lagos , College of Medicine , in Nigeria . “ This GBA result is a step toward that future .”
Okubadejo and her Global Parkinson ’ s Genetics Program ( GP2 ) coauthors published the GBA finding in The Lancet Neurology in August . GP2 is part of Aligning Science Across Parkinson ’ s , an initiative funded by the Sergey Brin Family Foundation and implemented by MJFF . GP2 has assembled more than 140 cohorts from 58 global locations with the goal of collecting and genotyping more than 150,000 unique samples . This work was built on previous efforts from MJFF to expand global genetics studies , including early work in 2004 on the Edmond J . Safra Global Genetics Consortia .
Researchers previously identified other GBA variants that increase risk of PD , most notably in people of Ashkenazi Jewish descent . These variants are known to decrease activity of the glucocerebrosidase ( GCase ) enzyme , and therapies to increase GCase activity already are in clinical trials . The exact mechanism of the newly identified GBA variant is not yet fully understood , but if it , too , decreases GCase activity , then these treatments might also benefit individuals with this variant .