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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Richard A. Gibbs, Ph.D.

Richard A. Gibbs, Ph.D.

Wofford Cain Chair in Molecular and Human Genetics
Professor of Molecular and Human Genetics

Other Positions

Professor, Programs in Integrative Molecular and Biomedical Sciences and Translational Biology & Molecular Medicine
Director, Human Genome Sequencing Center


B.Sc., University of Melbourne, 1979
Ph.D., University of Melbourne, 1985
Postdoc, Baylor College of Medicine, 1990

Research Interests

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, 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 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.

Current research within the 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.

Selected Publications

  1. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM (2013). Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders. N. Engl. J. Med. [Epub ahead of print] PubMed PMID: 24088041
  2. Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA (2011). Whole-genome sequencing for optimized patient management. Sci. Transl. Med. 3(87): 87re3. PubMed PMID: 21677200
  3. Coventry A, Bull-Otterson LM, Liu X, Clark AG, Maxwell TJ, Crosby J, Hixson JE, Rea TJ, Muzny DM, Lewis LR, Wheeler DA, Sabo A, Lusk C, Weiss KG, Akbar H, Cree A, Hawes AC, Newsham I, Varghese RT, Villasana D, Gross S, Joshi V, Santibanez J, Morgan M, Chang K, Iv WH, Templeton AR, Boerwinkle E, Gibbs R, Sing CF (2010). Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat. Commun. 1: 131. PubMed PMID: 21119644
  4. Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA (2010). Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 362(13): 1181-91. PubMed PMID: 20220177
  5. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM (2008). The complete genome of an individual by massively parallel DNA sequencing. Nature 452(7189): 872-6. PubMed PMID: 18421352
  6. Tribolium Genome Sequencing Consortium (2008). The genome of the model beetle and pest Tribolium castaneum. Nature 452(7190): 949-55. PubMed PMID: 18362917
  7. Rhesus Macaque Genome Sequencing and Analysis Consortium (2007). Evolutionary and biomedical insights from the rhesus macaque genome. Science 316(5822): 222-34. PubMed PMID: 17431167
  8. McGuire AL, Gibbs RA (2006). Genetics. No longer de-identified. Science 312(5772): 370-1. PubMed PMID: 16627725

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

Contact Information

Richard A. Gibbs, Ph.D.
Director, Human Genome Sequencing Center
Baylor College of Medicine
One Baylor Plaza, MS BCM226
Houston, TX, 77030, U.S.A.

Phone: 713-798-6539
Fax: 713-798-5741
E-mail: /

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