Why Global Representation in Parkinson’s Genetics Matters

    This semester, Dr. Mary Makarious shared her research with the Global Parkinson's Genetics Program (GP2). She uses data analytics and genetics in this program to investigate Parkinson's disease in various populations. Her discussion stood out for its emphasis on diversity. Treatments and risk assessments may not be applicable to the rest of the globe because most of our current genetic research is conducted on individuals of European heritage. Their goal in creating larger databases is to ensure that they represent the diversity of human communities and empower local researchers (Saffie-Awad et al., 2025).  
    This is supported by a recent study by Flores-Ocampo et al. (2025) titled "Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease." After examining several well-known Parkinson's genes, the researchers discovered that some ancestry groups had a high frequency of pathogenic mutations, while others had very few or none. For instance, new risk variants appear in underrepresented areas, while a mutation deemed "classic" for Parkinson's disease in European populations may be nearly undetectable in other groups. Their results demonstrate how risky it would be to presume that findings in one population would inevitably apply to others. 
    A larger question emerges when comparing the Flores-Ocampo study and Dr. Makarious's talk: In what ways may precision medicine offer customized care without escalating health inequalities around the world? On the one hand, identifying population-specific differences may revolutionize the treatment of Parkinson's disease by enabling more accurate diagnosis and potentially more effective therapies. However, if funds and resources for research are not distributed equitably, patients in understudied areas may still be left behind. The evident challenge is to build a future in which precision medicine implies not only "individualization," but also equitable. Studies like Flores-Ocampo et al. and initiatives like GP2 show that inclusion in research is essential and cannot be ignored. 

References 

Flores-Ocampo, V., Lim, A. W., Ogonowski, N. S., García-Marín, L. M., Ong, J. S., Yeow, D., Gonzaga-Jauregui, C., Kumar, K. R., & Rentería, M. E. (2025). Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease. Genes, 16(4), 454. https://doi.org/10.3390/genes16040454 

Saffie-Awad, P., Grant, S. M., Makarious, M. B., Elsayed, I., Sanyaolu, A. O., Wild Crea, P., Schumacher Schuh, A. F., … Bandrés-Ciga, S. (2025). Insights into ancestral diversity in Parkinson’s disease risk: A comparative assessment of polygenic risk scores. npj Parkinson’s Disease. https://doi.org/10.1038/s41531-025-00967-4