PHURI Seminar Series

When: Wednesday, December 11, 2024, 11:00 AM - 12:00 PM
Where: Basement, Empire House 67-75 New Road, Whitechapel - Hybrid

Speaker: Dr Manuel Corpas - University of Westminster

Clinical genome interpretation of Inca Empire descendants reveals unique signatures of local adaptation and drug response

"Native populations from South America remain among the least well studied populations in health genome studies. This data inequity can be traced back to historic underrepresentation and lack of access to advances in genome research. In this research I present the analysis of 150 high coverage whole genomes and 723 arrays from 746 individuals from 32 indigenous South American populations spread across the Pacific Coast, the Andes and the Amazon basin in modern Peru. We identify >1.6 million novel variants, many of them predicted to be functionally significant. Our variant analysis reveals an enrichment of loss of function in genes involved in immune response, skeletal, metabolic and cardiovascular domains. Their pharmacogenomic profiling allow us to find generalised unfavourable responses for drugs affecting the dosing and effectiveness of anticoagulant therapies and treatment for hepatitis C virus infection. By tracing differences in frequencies of genetic variants that may have offered a survival advantage to Inca Empire descendants, we are able to help bridge historical underrepresentation and health inequities for these populations in the era of precision medicine."