Ignacio Mata, PhD, Genomic Medicine Institute, was recently awarded funding by The Michael J. Fox Foundation to continue his research on the genetics of Parkinson's disease (PD) in Latino populations. The grant, which will provide nearly $740,000 over two years, is part of the largest initiative to expand genetic research to other countries in order to better define PD and discover new treatment options.
While PD affects individuals of all ethnicities, data suggest a higher prevalence among Latino populations. Research has identified several genes associated with PD. However, because the majority of these studies have been conducted in populations of European and Asian ancestry, little is known about the genes that may modify PD risk in Latinos.
To increase knowledge about PD and its genetic and environmental factors in Latino populations, Dr. Mata and collaborators established the Latin America Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD), the world's largest PD case-control cohort of Latinos. Currently, LARGE-PD includes 1,877 PD patients and 1,980 controls from 12 institutions in eight countries across Latin America.
"Latino individuals have very different degrees of genetic admixture depending on where they are from, so including patients from as many different countries as possible–and from as many areas within those countries as possible–will allow us to determine the genetic factors of PD in each of those populations," Dr. Mata says.
For example, one LARGE-PD study demonstrated for the first time that the G2019S mutation in the LRRK2 gene, which is considered the most common genetic cause of PD worldwide, is rare among individuals from Latin American countries with less European ancestry. Another more recent study found that mutations in the GBA gene, the most important PD risk factor for individuals of European descent, is also strongly associated with PD risk in Latino populations, but the frequency and distribution of variants in this gene vary among Latin American countries.
With this grant, Dr. Mata's team aims to expand and diversify the genetic representation of LARGE-PD by recruiting at new sites in Mexico, Puerto Rico and Costa Rica in addition to sites in other countries that have generated high participation in the past. Through this recruitment, they plan to more than double the number of participants. "We're still far away from the more than 40,000 PD patients of European origin that have been studied so far," Dr. Mata says. "But growing this cohort will have a huge impact as we head into the era of precision medicine where genetics will be key to finding the best treatment for each patient."
To address the lack of diversity in Parkinson’s disease genetic research, Dr. Mata and colleagues conducted the first ever genome-wide association study of Latino Parkinson’s disease patients from South America.
Dr. Mata and collaborators aim to pinpoint therapeutic targets for treatment and improve diagnosis and risk prediction in Latino populations.