From Genes and Genomes to Biology and Health

Despite considerable effort, the mechanisms underlying many diseases remain unknown, thwarting the development of robust approaches to prevention and treatment. In this setting, unbiased genetic and genomic approaches in humans can establish causal relationships between rare genotypes and traits, identifying specific genes and pathways that may be manipulated for health benefit.

In this lecture, Richard Lifton will discuss his lab’s work using genetics and genomics to systematically identify mutations responsible for extreme forms of common diseases. He and colleagues have explored the contributions of various mutations to a wide range of diseases. This work led to the identification of several hundred new genes in which mutations impart a substantial effect on disease risk. The results suggest that mutation of the vast majority of human genes will have a sizable phenotypic effect, both alone and in combination with specific environmental or genetic interactors. Revealing the roles of these genes will be advanced by the development of large databases that combine complete medical records along with advance measurement of analytes including metabolites and genomic sequence. Understanding the genetic and environmental contributions to health and disease will define the opportunities for advancing human health.