Title: The Mexican Biobank Project: Building Capacity for Big Data Science in Medical Genomics in Admixed Populations
Funder: Medical Research Council

Abstract: Technological innovation is a major driving force of a nation's economic growth. Unfortunately, such rapid advances frequently exceed society's capability of assimilation and translation into applicable benefits. Genomic sciences, propelled by the explosive growth of DNA-based technologies and the advent of the Big Data revolution, are at the forefront of this innovation. However, in order for these advances to benefit emerging economies, their academic communities must develop the expertise for big genomic data generation and analysis - reducing the scientific gap that exists between developed and developing countries. Such academic development can be fostered via international collaborative research. We propose to undertake the genetic profiling of the most comprehensive DNA Biobank available of the Mexican population to date. By doing so, we will build the Mexican capacity for embarking and leading large-scale genomic projects, including local data generation, training of human resources, attraction of top-level scientists in cutting-edge science, and translation into health care improvements. Genetic profiling and deep phenotyping are powerful tools that help better understand individuals' variation associated with disease and tackle population-specific health problems. Nation-wide initiatives such as that of the UK Biobank and the Faroe Genome Project, seek to enable a future in which healthcare is guided by the genetic makeup of its population. However, most studies and methods aimed at elucidating the relationships between health and genetic variation are being undertaken in predominantly European cohorts and thus may not be readily applicable to an admixed population such as that of Mexico. In order to establish the most inclusive genomic repository of a Latin American population, we propose to screen the largest nationwide Mexican Biobank, comprising 40,000 DNA samples collected as part of the Encuesta Nacional de Salud (ENSA) in 2000 [1]. Each of these samples has associated clinical, economic, sociological and epidemiological data that will enable the undertaking of a range of genetic studies including genome wide association studies (GWAS). As a proof of concept, we will first focus on replicating the identification of variants known to be associated with immune and metabolic syndromes present in the surveyed cohort. Specifically, we will measure antibody responses to a range of pathogens, many of which are widely prevalent in the Mexican population and which have recognised associations with variants in the human leukocyte antigen locus of the human genome. We will also re-test genetic associations with cardiometabolic traits that are available in the ENSA Biobank (e.g blood glucose and body-mass index). By undertaking genetic association studies using multiple phenotypes measured in most individuals participating in ENSA 2000 we will be able to recapitulate the approach used by other large-scale initiatives such as UK Biobank. Our study will be particularly well poised to not only replicate these signals discovered in Caucasian populations but we will be able to harness the uniquely admixed structure of the Mexican population to characterize these associations in fine detail. This project will help solidify Mexico's budding genomic sovereignty through the development of endogenous research capacity. Our final aim is to build a foundation for future genomic research incorporating ethical acquisition, storage, genotyping, sequencing and analysis all self-contained within developing countries such as Mexico. We foresee that these practices will create jobs for highly specialized professionals in Mexico and, in the long term, improve healthcare for the general population. Our aspiration is to establish a Roadmap that will further the autonomy of other developing economies with similarly admixed populations an


Research activity codes: 4.1 DISCOVERY AND PRECLINICAL TESTING OF MARKERS AND TECHNOLOGIES;4.5 RESOURCES AND INFRASTRUCTURE (DETECTION)
Health categories: GENERIC HEALTH RELEVANCE