Richard Gibbs, Ph.D.

Director, Baylor College of Medicine Human Genome Sequencing Center

image: Richard Gibbs, Ph.D.Contact information

Other positions

Wofford Cain Chair in Molecular and Human Genetics

Professor, Department of Molecular and Human Genetics

Professor, Programs in Integrative Molecular and Biomedical Sciences and Translational Biology & Molecular Medicine


B.Sc., University of Melbourne, 1979

Ph.D., University of Melbourne, 1985

Postdoc, Baylor College of Medicine, 1990

Awards and honors

2011: Elected to membership in the Institute of Medicine

2001: LSU Chancellor's Distinguished Lectureship

2000: Michael E. DeBakey, M.D., Excellence in Research Award

1988-1989: George R. Sampson Distinguished Research Fellowship, Muscular Dystrophy Association

1987: American Arthritis Foundation, Postdoctoral Fellowship

1986: Muscular Dystrophy Association of America, Postdoctoral Fellowship

Research interests

Richard Gibbs is the Founder and Director of the BCM-HGSC, established at BCM in 1996. The BCM-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, the 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 BCM-HGSC now employs more than 180 staff, including eighteen faculty.

Since 2007, new technologies have allowed unprecedented advances in human genetics. The BCM-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.

Current research within the BCM-HGSC is focused upon the genomics of cancer, heart disease and autism. To achieve this the group is sequencing single human genomes at an increasing rate. New molecular technologies are being developed for the mapping and sequencing, for exploring novel chemistries for DNA tagging, and to enable development of instrumentation for DNA manipulation. 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. Problems under study focus on developing tools for generating, manipulating, and analyzing genome data.


Campbell IM, Gambin T, Jhangiani SN, et al. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016;37(3):231-4. doi:10.1002/humu.22944.

Mirzaa GM, Campbell CD, Solovieff N, et al. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016;73(7):836-45. doi:10.1001/jamaneurol.2016.0363.

Pehlivan D, Beck CR, Okamoto Y, et al. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016;18(5):443-51. doi:10.1038/gim.2015.124.

Deiros DRio, Gibbs RA, Rogers J. DNAism: exploring genomic datasets on the web with Horizon Charts. BMC Bioinformatics. 2016;17:49. doi:10.1186/s12859-016-0891-2.

Gomez-Ospina N, Potter CJ, Xiao R, et al. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016;7:10713. doi:10.1038/ncomms10713.

Yu B, Pulit SL, Hwang S-J, et al. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016;9(1):64-70. doi:10.1161/CIRCGENETICS.115.001215.