Gene variant found linking people of African descent to higher Parkinson’s risk

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• John Yang:

  One million Americans are living with Parkinson's disease a progressive condition that causes problems with body movement. And every year about 90,000 Americans are newly diagnosed. But studies show that black patients are far less likely than others to be diagnosed and when they are diagnosed it's an average of four years later than white patients.

  New research by a group of Nigerian, British and U.S. doctors has identified a genetic variant that increases the risk of Parkinson's in people of African descent. And that variant is not seen in those of European ancestry.

  Ekemini Riley is the managing director of Aligning Science Across Parkinson's, which coordinated the project's researchers. Dr. Riley, from your perspective, what is the significance of this research, not only for our understanding of Parkinson's, but also for these underserved communities like people in America with of African descent?

• Dr. Ekemini Riley, Managing Director, Aligning Science Across Parkinson’s:

  I think that it showcases the importance of inclusion, and this real, intentional inclusion of people that are traditionally underrepresented in research here in the U.S., and also abroad. And I think what we've done through ASAP, the Aligning Science Across Parkinson's, as you mentioned up top, and the program under our umbrella that has really moved this forward, the Global Parkinson's Genetics Program, what they have really done is been inclusive through and through by creating a global coalition of investigators to really be able to enable this work.

• John Yang:

  And I know that the mechanism what how this variant works, is not known, but it's a marker, could this someday lead to targeted treatments targeted therapies for people of African descent?

• Dr. Ekemini Riley:

  That is the hope. So there are Parkinson's therapies that are already in human testing that target GBA1, which is the gene in which a new variant was identified. And this gene has already been known to increase the risk for developing Parkinson's disease and people of other ancestries.

  And with this discovery, and more like it, and being that we are already headed into an era of more targeted treatment, it really is the hope that it will widen the aperture and include more variants, and therefore more people who may be affected.

  I think one major corollary here is the cancer field where, you know, if you have a cancer, and you get it genotypes, there can be a particular treatment that is specific to what your cancer expresses. And a physician may be able to prescribe that for the patient, that is really the hope that we can get there to that place with Parkinson's disease.

  And I would say, you know, really, we are there about a few other risk factors in Parkinson's disease for which clinical trials are being run and targeting those risk factors. And so now, knowing about this particular risk factor, we can really start to feel more research into this area, and you know, again, has the potential to revolutionize treatment options for underserved populations.

• John Yang:

  And you talked about earlier, you talked about the importance of inclusion. Is this an issue just for Parkinson's research, or is this an issue for medical research overall?

• Dr. Ekemini Riley:

  This is an issue for medical research overall. I think there needs to be far more emphasis placed in making sure that the research that's being done is reflective of the communities that we are in. It's not special. It's not specific to Parkinson's disease, or any other particular disease area, but I think we're really moving in that direction.

  There are other studies that are being supported by the NIH. So key example is the All of Us initiative that's really trying to count more and more people within the U.S. that are of diverse ancestries and backgrounds. So we need more types of studies like that. And for existing studies, to really go out into the communities that they're serving.

• John Yang:

  Why is it that so much of medical research is about people of European descent?

• Dr. Ekemini Riley:

  There's a history of racism, scientific distrust within this country. There's also that type of history abroad as well. And I think as we are moving forward to think about how we want to understand disease and how we want to target disease, more and more, we're going to see what I hope we'll see, as more and more efforts really opening up and thinking about how to include populations of other ethnicities, other ancestries, and really coming together to give a more global picture of disease.

  Like I've mentioned, their compound issues here, I think far more than we can get into in this particular segment. But I do think that it's time now to sort of shift our focus, and really think about how we're going to dismantle what has existed before, again, that being a history of racism, which has been, you know, fostered scientific distrust and the like, to really build now more and do better, and include people who are traditionally underrepresented here in the U.S. and abroad.

• John Yang:

  I have to say that this study this — you're finding was sort of almost accidental, you didn't set out to look for this.

• Dr. Ekemini Riley:

  Right. That is correct. Originally, we set up this project and the leadership of GB2, you know, again, they are really walking the walk and thinking about how they're going to build capacity within the countries that they're working with, and then also be a discovery engine.

  And so they set up a practice project for trainees in Nigeria, and in Britain, and it just so happened that, you know, doing this training exercise and using real data, we actually led to uncovering a real finding.

• John Yang:

  So that must have been very exciting for the people who are in the training.

• Dr. Ekemini Riley:

  Very exciting for us. Yes.

• John Yang:

  Ekemini Riley of Aligning Science Across Parkinson's, thank you very much.

• Dr. Ekemini Riley:

  Thank you.