Population genetics provides a critical framework for understanding how human genetic variation influences health and disease. However, much of current genomic research remains biased toward populations of European ancestry, limiting both biological insight and the broader applicability of genomic medicine.
Human populations are structured at multiple geographic and temporal scales, and each region—and often each country—has its own distinct demographic history and genetic landscape. These differences influence the distribution of genetic variation, disease risk, and the performance of approaches such as genome-wide association studies (GWAS) and polygenic risk prediction. Understanding and accounting for this underlying population structure is therefore essential for both research and clinical applications.
This special issue aims to bring together perspectives on the role of population genetics in shaping health and disease across diverse and underrepresented populations, particularly in regions of the Global South. We particularly encourage contributions that provide country- or region-specific perspectives, highlighting how demographic history, genetic diversity, and local research contexts influence the study of human disease.
We invite review articles, perspectives, and original contributions that address questions related to human health and disease from a population genetic perspective. Topics of interest include, but are not limited to:
- The impact of population structure and demographic history on disease studies within specific countries or regions
- Challenges and opportunities in applying GWAS and other genomic approaches in diverse populations
- Genetic diversity and its implications for disease risk, diagnosis, and treatment
- Local and regional perspectives on genomic medicine and health research
- Host–pathogen interactions and region-specific disease dynamics
- Limitations of current genomic resources and strategies to improve representation
We particularly encourage submissions that incorporate data from underrepresented populations and that reflect local expertise and perspectives.
As with our previous special issues, we encourage contributions that foster collaboration across career stages. In particular, we welcome submissions led jointly by junior and senior researchers, providing opportunities for early-career scientists to take active roles in developing and presenting their work within an established research framework.
All submissions will be subject to the journal’s standard peer-review process and must meet the usual criteria for scientific rigor and originality.
Submitted manuscripts should not have been published previously, nor been under consideration for publication elsewhere (except conference proceedings). All manuscripts will be thoroughly refereed through a single-blinded peer-review process. A guide for manuscript submission is available at Submission Instructions.
