Richard Gibbs is the founder and director of the Human Genome Sequencing Center (HGSC), established at BCM in 1996. The HGSC has a core mission of advancing medical care through research and translation of genomics. The group was one of the five worldwide sites to undertake and complete the Human Genome Project, culminating in contribution of approximately ten percent of the sequence in 2003. The group subsequently collaborated to sequence many key species (Drosophila melanogaster, Brown Norway rat, rhesus macaque, bovine, Dictyostelium discoideum, sea urchin and honey bee genomes) and to generate the first comprehensive map of human genetic variation (the HapMap project). The HGSC now employs more than 180 staff, including eighteen faculty.
Since 2007, new technologies have allowed unprecedented advances in human genetics. The HGSC pioneered whole exome capture methods and published the first diploid sequence of a human, James Watson. Next, we demonstrated the utility of whole genome sequencing for genetic disease discovery and for guiding effective clinical treatments. In 2011, we began deploying these methods into routine clinical practice and now provide full gene sequencing to hundreds of individual patients each month. The HGSC is also part of the national program for systematic discovery of the cause of human single genome defects and has an active bioinformatics program, with research projects involving biologists and computer scientists. To advance the use of genomics in adult clinics the HGSC has developed methods for screening for cardiovascular genetic risk and has recently joined the national All of Us consortium. Problems under study focus on developing tools for generating, manipulating and analyzing genome data.