BMC Genomics is launching a new Collection on Genomics of isolated human populations. This Collection aims to showcase research exploring the genetic makeup, evolutionary dynamics, unique genomic features, and disease susceptibility of human populations living in isolation.
Isolated human populations, often residing in geographically constrained regions or culturally distinct communities, offer invaluable insights into various aspects of human genetics and evolution. Their genetic isolation can lead to the accumulation of rare variants, genetic drift, and founder effects, which in turn shape their genomic architecture and susceptibility to diseases.
Research into isolated human populations has advanced health sciences by uncovering rare genetic variants linked to diseases and longevity. These discoveries have provided targets for drug development and precision medicine. For instance, studies on these populations have identified genetic factors associated with diabetes and cardiovascular disorders, aiding the creation of targeted treatments. Additionally, understanding the unique genetic adaptations in isolated populations has revealed novel biological pathways and mechanisms. These include adaptations to hypoxia in high-altitude populations, providing insights into respiratory and cardiovascular health; lipid metabolism variations in populations with traditional diets, offering new perspectives on obesity and heart disease; and unique immune system adaptations that help in understanding autoimmune diseases and infection resistance. Continued research in this area promises further breakthroughs in personalized medicine, population health management, and genomics, ultimately enhancing healthcare outcomes and deepening our understanding of human genetic diversity.
We invite submissions that investigate the genomics of isolated human populations from diverse perspectives. Topics of interest include, but are not limited to:
• Population bottleneck and genomic resilience
• Genomic signatures of consanguinity
• High-throughput sequencing in isolated populations
• Comparative studies of isolated populations in different geographical areas
• Transcriptomic insights into genetic adaptations
• Genomic consequences of geographic isolation
• Comparative genomics and cross-population studies
• Genomic adaptations to local environments
• Disease susceptibility and genetic disorders in isolated populations
• Founder effects and genetic drift
This Collection supports and amplifies research related to SDG 3: Good Health & Well-Being.
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