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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.


Patterns and rates of exonic de novo mutations in autism spectrum disorders., Neale, Benjamin M., Kou Yan, Liu Li, Ma'ayan Avi, Samocha Kaitlin E., Sabo Aniko, Lin Chiao-Feng, Stevens Christine, Wang Li-San, Makarov Vladimir, et al. , Nature, 2012 May 10, Volume 485, Issue 7397, p.242-5, (2012) Abstract
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms., Campeau, Philippe M., Lu James T., Dawson Brian C., Fokkema Ivo F. A. C., Robertson Stephen P., Gibbs Richard A., and Lee Brendan H. , Human mutation, 2012 Nov, Volume 33, Issue 11, p.1520-5, (2012) Abstract
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes., Biankin, Andrew V., Waddell Nicola, Kassahn Karin S., Gingras Marie-Claude, Muthuswamy Lakshmi B., Johns Amber L., Miller David K., Wilson Peter J., Patch Ann-Marie, Wu Jianmin, et al. , Nature, 2012 Nov 15, Volume 491, Issue 7424, p.399-405, (2012) Abstract
Gene structure in the sea urchin Strongylocentrotus purpuratus based on transcriptome analysis., Tu, Qiang, Cameron Andrew R., Worley Kim C., Gibbs Richard A., and Davidson Eric H. , Genome research, 2012 Oct, Volume 22, Issue 10, p.2079-87, (2012) Abstract
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model., McIntyre, Jeremy C., Davis Erica E., Joiner Ariell, Williams Corey L., Tsai I-Chun, Jenkins Paul M., McEwen Dyke P., Zhang Lian, Escobado John, Thomas Sophie, et al. , Nature medicine, 2012 Sep, Volume 18, Issue 9, p.1423-8, (2012) Abstract
Epistasis dominates the genetic architecture of Drosophila quantitative traits., Huang, Wen, Richards Stephen, Carbone Mary Anna, Zhu Dianhui, Anholt Robert R. H., Ayroles Julien F., Duncan Laura, Jordan Katherine W., Lawrence Faye, Magwire Michael M., et al. , Proceedings of the National Academy of Sciences of the United States of America, 2012 Sep 25, Volume 109, Issue 39, p.15553-9, (2012) Abstract
Transcriptomic analysis supports similar functional roles for the two thymuses of the tammar wallaby., Wong, Emily S. W., Papenfuss Anthony T., Heger Andreas, Hsu Arthur L., Ponting Chris P., Miller Robert D., Fenelon Jane C., Renfree Marilyn B., Gibbs Richard A., and Belov Katherine , BMC genomics, 2011, Volume 12, p.420, (2011) Abstract
Exome capture sequencing identifies a novel mutation in BBS4., Wang, Hui, Chen Xianfeng, Dudinsky Lynn, Patenia Claire, Chen Yiyun, Li Yumei, Wei Yue, Abboud Emad B., Al-Rajhi Ali A., Lewis Richard Alan, et al. , Molecular vision, 2011, Volume 17, p.3529-40, (2011) Abstract
Complete genome sequence of Treponema paraluiscuniculi, strain Cuniculi A: the loss of infectivity to humans is associated with genome decay., Šmajs, David, Zobaníková Marie, Strouhal Michal, Čejková Darina, Dugan-Rocha Shannon, Pospíšilová Petra, Norris Steven J., Albert Tom, Qin Xiang, Hallsworth-Pepin Kym, et al. , PloS one, 2011, Volume 6, Issue 5, p.e20415, (2011) Abstract
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities., Bainbridge, Matthew N., Wang Min, Wu Yuanqing, Newsham Irene, Muzny Donna M., Jefferies John L., Albert Thomas J., Burgess Daniel L., and Gibbs Richard A. , Genome biology, 2011, Volume 12, Issue 7, p.R68, (2011) Abstract
Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development., Renfree, Marilyn B., Papenfuss Anthony T., Deakin Janine E., Lindsay James, Heider Thomas, Belov Katherine, Rens Willem, Waters Paul D., Pharo Elizabeth A., Shaw Geoff, et al. , Genome biology, 2011, Volume 12, Issue 8, p.R81, (2011) Abstract
Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta)., Fawcett, Gloria L., Raveendran Muthuswamy, Rio Deiros David, Chen David, Yu Fuli, Harris Ronald Alan, Ren Yanru, Muzny Donna M., Reid Jeffrey G., Wheeler David A., et al. , BMC genomics, 2011, Volume 12, p.311, (2011) Abstract
Building a comprehensive genomic program for hepatocellular carcinoma., Harring, Theresa R., Guiteau Jacfranz J., Nguyen Thao N. T., Cotton Ron T., Gingras Marie-Claude, Wheeler David A., O'Mahony Christine A., Gibbs Richard A., Brunicardi Charles F., and Goss John A. , World journal of surgery, 2011 Aug, Volume 35, Issue 8, p.1746-50, (2011) Abstract
A primer on a hepatocellular carcinoma bioresource bank using the cancer genome atlas guidelines: practical issues and pitfalls., Nguyen, Thao N. T., Cotton Ron T., Harring Theresa R., Guiteau Jacfranz J., Gingras Marie-Claude, Wheeler David A., O'Mahony Christine A., Gibbs Richard A., Brunicardi Charles F., and Goss John A. , World journal of surgery, 2011 Aug, Volume 35, Issue 8, p.1732-7, (2011) Abstract
The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function., Zhou, Guisheng, Gingras Marie-Claude, Liu Shi-He, Li Donghui, Li Zhijun, Catania Robbi L., Stehling Kelly M., Li Min, Paganelli Giovanni, Gibbs Richard A., et al. , World journal of surgery, 2011 Aug, Volume 35, Issue 8, p.1715-24, (2011) Abstract
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1., Agrawal, Nishant, Frederick Mitchell J., Pickering Curtis R., Bettegowda Chetan, Chang Kyle, Li Ryan J., Fakhry Carole, Xie Tong-Xin, Zhang Jiexin, Wang Jing, et al. , Science (New York, N.Y.), 2011 Aug 26, Volume 333, Issue 6046, p.1154-7, (2011) Abstract
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis., Wang, Xia, Wang Hui, Cao Ming, Li Zhe, Chen Xianfeng, Patenia Claire, Gore Athurva, Abboud Emad B., Al-Rajhi Ali A., Lewis Richard A., et al. , Human mutation, 2011 Dec, Volume 32, Issue 12, p.1450-9, (2011) Abstract
SSTR5 P335L monoclonal antibody differentiates pancreatic neuroendocrine neuroplasms with different SSTR5 genotypes., Zhou, Guisheng, Gingras Marie-Claude, Liu Shi-He, Sanchez Robbi, Edwards Dean, Dawson David, Christensen Kurt, Paganelli Giovanni, Gibbs Richard, Fisher William, et al. , Surgery, 2011 Dec, Volume 150, Issue 6, p.1136-42, (2011) Abstract
The Drosophila melanogaster transcriptome by paired-end RNA sequencing., Daines, Bryce, Wang Hui, Wang Liguo, Li Yumei, Han Yi, Emmert David, Gelbart William, Wang Xia, Li Wei, Gibbs Richard, et al. , Genome research, 2011 Feb, Volume 21, Issue 2, p.315-24, (2011) Abstract
PDX-1: demonstration of oncogenic properties in pancreatic cancer., Liu, Shi-He, Patel Sanjeet, Gingras Marie-Claude, Nemunaitis John, Zhou Guisheng, Chen Changyi, Li Min, Fisher William, Gibbs Richard, and Brunicardi Charles F. , Cancer, 2011 Feb 15, Volume 117, Issue 4, p.723-33, (2011) Abstract
Genome-sequencing anniversary. Bringing genomics and genetics back together., Gibbs, Richard A. , Science (New York, N.Y.), 2011 Feb 4, Volume 331, Issue 6017, p.548, (2011)
Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel., Plon, Sharon E., Wheeler David A., Strong Louise C., Tomlinson Gail E., Pirics Michael, Meng Qingchang, Cheung Hannah C., Begin Phyllis R., Muzny Donna M., Lewis Lora, et al. , Cancer genetics, 2011 Jan, Volume 204, Issue 1, p.19-25, (2011) Abstract
Comparative and demographic analysis of orang-utan genomes., Locke, Devin P., Hillier Ladeana W., Warren Wesley C., Worley Kim C., Nazareth Lynne V., Muzny Donna M., Yang Shiaw-Pyng, Wang Zhengyuan, Chinwalla Asif T., Minx Pat, et al. , Nature, 2011 Jan 27, Volume 469, Issue 7331, p.529-33, (2011) Abstract
Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival., Li, Donghui, Tanaka Motofumi, Brunicardi Charles F., Fisher William E., Gibbs Richard A., and Gingras Marie-Claude , Cancer, 2011 Jul 1, Volume 117, Issue 13, p.2863-72, (2011) Abstract
Demographic history and rare allele sharing among human populations., Gravel, Simon, Henn Brenna M., Gutenkunst Ryan N., Indap Amit R., Marth Gabor T., Clark Andrew G., Yu Fuli, Gibbs Richard A., and Bustamante Carlos D. , Proceedings of the National Academy of Sciences of the United States of America, 2011 Jul 19, Volume 108, Issue 29, p.11983-8, (2011) Abstract

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