The Evolutionary Rise of Modern Disease Risk

Funded by the Fondation pour la Recherche Médicale

Although genome-wide association studies have identified many variants associated with increased or decreased risk of developing complex diseases such as autoimmune, metabolic, and psychiatric disorders, the evolutionary processes that shaped disease risk remain largely unexplored. Notably, many risk alleles are shared across populations and persist at substantial frequencies, suggesting that present-day disease susceptibility may reflect long-standing evolutionary trade-offs rather than recent dysfunction.

In this project we investigate the evolutionary origins of disease-associated genetic variation by integrating ancient genomes with large-scale human genomic and medical data. By placing disease risk variants into a temporal framework spanning ancient hominins to present-day populations, we aim to distinguish long-standing components of disease risk from more recent contributions shaped by our demographic history.

By adopting an evolutionary perspective, we seek to clarify why genetic risk persists for common diseases and to identify conserved biological mechanisms underlying susceptibility. These insights will help refine the interpretation of genetic associations and inform strategies for translating human genetic variation into biological and medical understanding.

Why do genetic risk factors for disease persist? Human evolution has shaped the genetic variation that influences health and disease in present-day populations.

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