Understanding the human genome and its interplay with phenotypic variation requires studying the full spectrum of human diversity. In particular, populations from the American continent with Native American ancestry have been largely underrepresented in genomic studies, while they are bearers of a unique history from one of the regions of the world where proportionally more novel variation remains to be discovered.

We are interested in extending genetic research to diverse populations from the Americas to elucidate the evolutionary processes shaping Native American genomes, the historical and demographic events involved in the recent genetic admixture of the New World population, and its implications in health and disease.

Rare genetic variants are likely responsible for a disproportionate number of complex diseases and are likely to be population-specific. That being so, our current research projects are aimed at characterizing the extent of population substructure across the major regions of the Americas including Mexico, South America, and the Caribbean, as well as US-based communities tracing their ancestry to such regions.

We are accomplishing that in collaboration with multiple Institutions across the U.S. and Latin America, including the National Institute of Genomic Medicine in Mexico (INMEGEN), the National Institute of Medical Sciences and Nutrition in Mexico City (INNSZ), the National School of History and Anthropology (ENAH), the University of Guadalajara in Mexico, the National University of the Altiplano in Peru, the University of Puerto Rico in Mayaguez, the University of Miami, the University of California San Francisco (UCSF), and University College London (UCL). Together, we are generating genome-wide SNP array and full genome sequencing data to asses the degree of population structure among both Native American and admixed populations, including Hispanic/Latinos, African Americans and Afro-Caribbeans.

We are also interested in detecting signatures of adaptive evolution in Native American populations and its correlation with environmental variables and geographic barriers. In collaboration with the Baker Lab at Stanford and the Regional Hospital Manuel Núñez Butrón in Peru, we are studying the genetic basis of pre-eclampsia in human populations adapted to high-altitude, where pregnant women have higher rates of maternal hypertension than the native population.