PRBB-CRG Sessions Elinor Karlsson

26/09/202512:00MARIE CURIEPRBB-CRG SessionsElinor KarlssonBroad Institute of MIT and Harvard & UMass Chan Medical School"Discovering the Genomic Basis of Exceptional Traits Across Mammals"Host: Donate WeghornAbstract:The Zoonomia Project, one of the largest comparative genomics initiatives ever undertaken, compared 240 mammalian species spanning over 100 million years of evolutionary history. This work revealed that at least 11% of the human genome is evolutionarily constrained, and that constrained bases are more enriched for variants that explain common disease heritability than any other functional annotation. Yet nearly half of the most highly constrained bases remain unannotated in existing datasets, highlighting how much of the genome’s regulatory landscape remains unexplored. Building on this foundation, we are combining the "common garden" approach from classical ecology with large-scale genomics to compare cellular responses across 12 different mammals. This includes species with remarkable physiological adaptations that could open new avenues of therapeutic development, such as camels that thrive in high temperatures, ground squirrels that hibernate, and fruit bats that manage blood sugar spikes. As we look toward an even more data-rich future, we ask how large-scale initiatives like Zoonomia can both advance human health and support efforts to protect biodiversity.