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.


Schwager EE, Sharma PP, Clarke T, et al. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution. BMC Biol. 2017;15(1):62. doi:10.1186/s12915-017-0399-x.

Posey JE, Harel T, Liu P, et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017;376(1):21-31. doi:10.1056/NEJMoa1516767.

Eldomery MK, Coban-Akdemir Z, Harel T, et al. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017;9(1):26. doi:10.1186/s13073-017-0412-6.

Abbott M, Jain M, Pferdehirt R, et al. Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017;173(10):2789-2794. doi:10.1002/ajmg.a.38383.

Bayram Y, White JJ, Elcioglu N, et al. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017;101(1):149-156. doi:10.1016/j.ajhg.2017.06.006.

Hampton OA, English AC, Wang M, et al. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017;18(Suppl 6):691. doi:10.1186/s12864-017-4021-y.

Gambin T, Akdemir ZC, Yuan B, et al. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017;45(4):1633-1648. doi:10.1093/nar/gkw1237.

Prall TM, Graham ME, Karl JA, et al. Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics. 2017;69(5):325-339. doi:10.1007/s00251-017-0977-7.

de Vries PS, Yu B, Feofanova EV, et al. Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017;26(17):3442-3450. doi:10.1093/hmg/ddx266.