Laboratory of Sudhir Kumar :: Phylomedicine

Phylomedicine of Genetic Diseases

Phylomedicine is at the intersection of molecular evolution and genome medicine. We are interested in developing many ways in which phylogeny can inform medicine not only retrospectively, but also prospectively. We have found that that protein positions harboring Mendelian disease-causing variants exhibit distinct evolutionary patterns, which means that the patterns of evolutionary conservation and divergence among species reveal functional (health-related) consequences of genetic variants. This realization has catalyzed our use of evolutionary information in building better predictive models for genetic variants of unknown phenotypic effect. This evolution-aware approach can be used to prioritize disease-associated SNPs identified in genome-wide association studies (GWAS) and in assessing novel variants identified in clinical exome and whole-genome sequencing studies. We are currently developing new methods and tools that will improve our understanding of the genetic contributions to Mendelian, complex, and somatic (cancer) disease.