Genomics and the Future of Medicine

ABSTRACT

The world population is getting older, but a great challenge is how to increase health span and not only lifespan. What is the role of genetics versus environment? Several recent breakthroughs such as the human genome project, the IPS stem-cells and the CRISPR technology for gene editing will allow a revolution in gene therapy, precision and regenerative medicine and xenotransplantation. Aiming to contribute to a healthier longevity, our group is developing several projects including the characterization of the genome of our elderly highly admixed population. We have performed whole genome sequencing of about 1500 healthy Brazilians older than 60, which represents the largest genome databank in Latin America. Our aims were a) to have a database from our population in order to improve the interpretation of pathogenicity of rare unknown variants in patients with undiagnosed genetic disorders and precision medicine b) identify “protective” variants underlying healthy longevity. We found 2 million genetic variants which were not present in the international databanks (Naslavsky et al., 2022). Since the advent of COVID-19 pandemic, we are investigating genetic variants in individuals, who were exposed to SARS-Cov-2 and remained asymptomatic. To address this question, we investigated discordant couples where one was infected and develop COVID-19 while the partner remained asymptomatic and serum negative. We collected samples from nonagenarians and centenarians who survived COVID-19 or remained asymptomatic. We will infect different IPS derived cell lines from “resistant” centenarians with SARS-Cov2 in an attempt to increase our understanding on “resistant genetic variants and mechanisms”.