Transforming Medicine: Genomics, Bioinformatics, and Human Health

摘要

The completion of human genome sequencing in April 2003 marked the beginning of a new era for modern biology. Since that time, the impact of having the human sequence in hand has been nothing short of tremendous. The attainment of this goal, which many have compared to landing a man on the moon, will obviously have a profound effect on how biological and biomedical research will be conducted in the future. The intelligent use of sequence data from humans and other organisms, along with recent technological innovation fostered by the Human Genome Project, has already led to important advances in our understanding of diseases that have a genetic basis. More importantly, the advent of the genomic era will have a profound effect on how health care is delivered from this point forward. This lecture will provide an overview of current research themes in genomics and bioinformatics, all of which are aimed at understanding the genetic factors influencing risk for complex diseases. These efforts include whole-genome association approaches to common disease, large-scale clinical genotyping projects, the comprehensive identification of the structural and functional components in the human genome (the ENCODE Project), the Cancer Genome Atlas, and new advances in the area of chemical genomics. These research efforts, all of which rely on cutting-edge genomic and bioinformatics approaches, have already begun to yield important insight into genetic pathways that make us more susceptible to genetic disorders.