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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.


Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population, Gonzaga-Jauregui, Claudia, Gamble Candace N., Yuan Bo, Penney Samantha, Jhangiani Shalini, Muzny Donna M., Gibbs Richard A., Lupski James R., and Hecht Jacqueline T. , European Journal of Human Genetics, 07/2014, (2014)
Next-generation sequencing identifies rare variants associated with Noonan syndrome, Chen, P. - C., Yin J., Yu H. - W., Yuan T., Fernandez M., Yung C. K., Trinh Q. M., Peltekova V. D., Reid J. G., Tworog-Dube E., et al. , Proceedings of the National Academy of Sciences, 08/2014, Volume 111, Issue 31, p.11473 - 11478, (2014)
Trans-ancestry mutational landscape of hepatocellular carcinoma genomes, Totoki, Yasushi, Tatsuno Kenji, Covington Kyle R., Ueda Hiroki, Creighton Chad J., Kato Mamoru, Tsuji Shingo, Donehower Lawrence A., Slagle Betty L., Nakamura Hiromi, et al. , Nature Genetics, 11/2014, (2014)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing, Yang, Yaping, Muzny Donna M., Xia Fan, Niu Zhiyv, Person Richard, Ding Yan, Ward Patricia, Braxton Alicia, Wang Min, Buhay Christian, et al. , JAMA, 11/2014, Volume 312, Issue 18, p.1870, (2014)
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Morrison, Alanna C., Bis Joshua C., Hwang Shih-Jen, Ehret Georg B., Lumley Thomas, Rice Kenneth, Muzny Donna, Gibbs Richard A., Boerwinkle Eric, Psaty Bruce M., et al. , PloS one, 2014, Volume 9, Issue 10, p.e109155, (2014) Abstract
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., Sheehan, Vivien A., Crosby Jacy R., Sabo Aniko, Mortier Nicole A., Howard Thad A., Muzny Donna M., Dugan-Perez Shannon, Aygun Banu, Nottage Kerri A., Boerwinkle Eric, et al. , PloS one, 2014, Volume 9, Issue 10, p.e110740, (2014) Abstract
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline., Reid, Jeffrey G., Carroll Andrew, Veeraraghavan Narayanan, Dahdouli Mahmoud, Sundquist Andreas, English Adam, Bainbridge Matthew, White Simon, Salerno William, Buhay Christian, et al. , BMC bioinformatics, 2014, Volume 15, p.30, (2014) Abstract
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia, Murali, Chaya, Lu James T., Jain Mahim, Liu David S., Lachman Ralph, Gibbs Richard A., Lee Brendan H., Cohn Daniel, and Campeau Philippe M. , Molecular Genetics and Metabolism Reports, 2014, Volume 1, p.213 - 219, (2014)
Open access data sharing in genomic research., Pereira, Stacey, Gibbs Richard A., and McGuire Amy L. , Genes, 2014, Volume 5, Issue 3, p.739-47, (2014) Abstract
Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients., Scollon, Sarah, Bergstrom Katie, Kerstein Robin A., Wang Tao, Hilsenbeck Susan G., Ramamurthy Uma, Gibbs Richard A., Eng Christine M., Chintagumpala Murali M., Berg Stacey L., et al. , Genome medicine, 2014, Volume 6, Issue 9, p.69, (2014) Abstract
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Morrison, Alanna C., Bis Joshua C., Hwang Shih-Jen, Ehret Georg B., Lumley Thomas, Rice Kenneth, Muzny Donna, Gibbs Richard A., Boerwinkle Eric, Psaty Bruce M., et al. , PloS one, 2014, Volume 9, Issue 10, p.e109155, (2014) Abstract
Effects of TP53 mutational status on gene expression patterns across 10 human cancer types., Parikh, Neha, Hilsenbeck Susan, Creighton Chad J., Dayaram Tajhal, Shuck Ryan, Shinbrot Eve, Xi Liu, Gibbs Richard A., Wheeler David A., and Donehower Lawrence A. , The Journal of pathology, 2014 Apr, Volume 232, Issue 5, p.522-33, (2014) Abstract
The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera., Wang, L., Swierczek S. I., Lanikova L., Kim Sj, Hickman K., Walker K., Wang K., Drummond J., Doddapaneni H., Reid J. G., et al. , Leukemia, 2014 Apr, Volume 28, Issue 4, p.938-41, (2014)
Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes., Wang, L., Swierczek S. I., Drummond J., Hickman K., Kim Sj, Walker K., Doddapaneni H., Muzny D. M., Gibbs R. A., Wheeler D. A., et al. , Leukemia, 2014 Apr, Volume 28, Issue 4, p.935-8, (2014)
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function., Karaca, Ender, Weitzer Stefan, Pehlivan Davut, Shiraishi Hiroshi, Gogakos Tasos, Hanada Toshikatsu, Jhangiani Shalini N., Wiszniewski Wojciech, Withers Marjorie, Campbell Ian M., et al. , Cell, 2014 Apr 24, Volume 157, Issue 3, p.636-50, (2014) Abstract
NR2F1 mutations cause optic atrophy with intellectual disability., Bosch, Daniëlle G. M., Boonstra Nienke F., Gonzaga-Jauregui Claudia, Xu Mafei, de Ligt Joep, Jhangiani Shalini, Wiszniewski Wojciech, Muzny Donna M., Yntema Helger G., Pfundt Rolph, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.303-9, (2014) Abstract
The genetic basis of DOORS syndrome: an exome-sequencing study., Campeau, Philippe M., Kasperaviciute Dalia, Lu James T., Burrage Lindsay C., Kim Choel, Hori Mutsuki, Powell Berkley R., Stewart Fiona, Félix Têmis Maria, van den Ende Jenneke, et al. , Lancet neurology, 2014 Jan, Volume 13, Issue 1, p.44-58, (2014) Abstract
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia., Pehlivan, Davut, Karaca Ender, Aydin Hatip, Beck Christine R., Gambin Tomasz, Muzny Donna M., Bilge Geckinli B., Karaman Ali, Jhangiani Shalini N., Gibbs Richard A., et al. , European journal of human genetics : EJHG, 2014 Jan 15, (2014) Abstract
Comparative validation of the D. melanogaster modENCODE transcriptome annotation., Chen, Zhen-Xia, Sturgill David, Qu Jiaxin, Jiang Huaiyang, Park Soo, Boley Nathan, Suzuki Ana Maria, Fletcher Anthony R., Plachetzki David C., FitzGerald Peter C., et al. , Genome research, 2014 Jul, Volume 24, Issue 7, p.1209-23, (2014) Abstract
Novel somatic and germline mutations in intracranial germ cell tumours., Wang, Linghua, Yamaguchi Shigeru, Burstein Matthew D., Terashima Keita, Chang Kyle, Ng Ho-Keung, Nakamura Hideo, He Zongxiao, Doddapaneni Harshavardhan, Lewis Lora, et al. , Nature, 2014 Jun 4, (2014) Abstract
The sheep genome illuminates biology of the rumen and lipid metabolism., Jiang, Yu, Xie Min, Chen Wenbin, Talbot Richard, Maddox Jillian F., Faraut Thomas, Wu Chunhua, Muzny Donna M., Li Yuxiang, Zhang Wenguang, et al. , Science (New York, N.Y.), 2014 Jun 6, Volume 344, Issue 6188, p.1168-73, (2014) Abstract
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome., Wangler, Michael F., Gonzaga-Jauregui Claudia, Gambin Tomasz, Penney Samantha, Moss Timothy, Chopra Atul, Probst Frank J., Xia Fan, Yang Yaping, Werlin Steven, et al. , PLoS genetics, 2014 Mar, Volume 10, Issue 3, p.e1004258, (2014) Abstract
Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Lin, Honghuang, Sinner Moritz F., Brody Jennifer A., Arking Dan E., Lunetta Kathryn L., Rienstra Michiel, Lubitz Steven A., Magnani Jared W., Sotoodehnia Nona, McKnight Barbara, et al. , Heart rhythm : the official journal of the Heart Rhythm Society, 2014 Mar, Volume 11, Issue 3, p.452-7, (2014) Abstract
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway., Enns, Gregory M., Shashi Vandana, Bainbridge Matthew, Gambello Michael J., Zahir Farah R., Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2014 Mar 20, (2014) Abstract
Comparative primate genomics: emerging patterns of genome content and dynamics., Rogers, Jeffrey, and Gibbs Richard A. , Nature reviews. Genetics, 2014 May, Volume 15, Issue 5, p.347-59, (2014) Abstract

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