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An effort to diversify genetic studies has led to a discovery about Parkinson's disease. NPR's Jon Hamilton reports on the identification of a gene variant that raises the risk of Parkinson's in people of African ancestry.
JON HAMILTON, BYLINE: Scientists have found dozens of gene variants associated with Parkinson's - a brain disorder that can impair a person's ability to move and speak - but many other risky variants remain undetected. Andy Singleton of the National Institutes of Health says that's partly because of the way most genetic studies have been conducted.
ANDY SINGLETON: Our basis of knowledge for genetics in Parkinson's disease was limited to northern European populations, so we decided to diversify that endeavor and seek ways to globalize genetics.
HAMILTON: ...By joining the global Parkinson's genetics program, which includes researchers from around the world. The goal - collect and analyze genetic samples from more than 150,000 people with a range of ancestries. Sara Bandres Ciga, a molecular geneticist at the NIH, says the first step was to make sure local groups collecting samples were also benefiting from the effort.
SARA BANDRE CIGA: For a project to succeed, we have to always ask - is this something you are interested in? Is this something you want to learn? - and then take it from there.
HAMILTON: Many groups wanted easy access to the genetic information they were collecting and help learning how to analyze it. So Bandres Ciga says she and her colleagues created an online database and a training curriculum for scientists on the ground.
BANDRE CIGA: So basically they will not be only sample donors, but they will be researchers that will tackle the problems.
HAMILTON: Mary Makarious, a data scientist at the NIH, says this meant putting training modules online so people anywhere could study subjects like bioinformatics and molecular biology.
MARY MAKARIOUS: Instead of just delivering the modules in English or in Spanish, now we have scripts with all the training translated into over 100 or so languages.
HAMILTON: Less than five years after its launch, the effort has produced a notable finding. It came from an analysis of nearly 200,000 samples from people in Nigeria, as well as U.S. residents with African ancestry. Andy Singleton of the NIH says the analysis found that Parkinson's was more common in people whose chromosomes had at least one copy of a specific gene variant.
SINGLETON: If you carry one, it increases your risk by about 50%, something like that. If you carry two, it increases your risk by about 400%.
HAMILTON: The variant affects a gene called GBA1. A different variant of that gene is known to raise the risk of Parkinson's in people of European ancestry, but this new one is found almost exclusively in people of African descent. And Singleton says it affects brain cells in a different way.
SINGLETON: This shows the potential of working together. The potential of making new findings in populations around the world and using this global collaboration to understand disease.
HAMILTON: The discovery, published in The Lancet Neurology, was cause for celebration at a scientific meeting in Denmark a few weeks ago. Ekemini Riley is managing director of Aligning Science Across Parkinson's.
EKEMINI RILEY: The air about the whole meeting was just abuzz with excitement, right? This is much earlier than any of us expected to get a major finding, so that's one big thing.
HAMILTON: Riley, an expert in molecular medicine, says the finding is especially meaningful to her because she has family from Nigeria. And she says the discovery could eventually help scientists develop a treatment specifically for people with this gene variant.
RILEY: So we can then target that specific protein that's gone wrong or specific molecule. That's the goal - is to get to that level of precision.
HAMILTON: Riley predicts there will be more discoveries about Parkinson's now that genetic studies are going global.
Jon Hamilton, NPR News. Transcript provided by NPR, Copyright NPR.
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