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Richard Gibbs, Ph.D.

Director, Baylor College of Medicine Human Genome Sequencing Center

image: Richard Gibbs, Ph.D.Contact information

agibbs@bcm.edu

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

Education

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.

Publications

Convergent evolution of the genomes of marine mammals., Foote, Andrew D., Liu Yue, Thomas Gregg W. C., Vinař Tomáš, Alföldi Jessica, Deng Jixin, Dugan Shannon, van Elk Cornelis E., Hunter Margaret E., Joshi Vandita, et al. , Nature genetics, 2015 Mar, Volume 47, Issue 3, p.272-5, (2015) Abstract
Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism., Bayram, Yavuz, Gulsuner Suleyman, Guran Tulay, Abaci Ayhan, Yesil Gozde, Gulsuner Hilal Unal, Atay Zeynep, Pierce Sarah B., Gambin Tomasz, Lee Ming, et al. , The Journal of clinical endocrinology and metabolism, 2015 Mar 16, p.jc20151150, (2015) Abstract
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome., White, Janson, Mazzeu Juliana F., Hoischen Alexander, Jhangiani Shalini N., Gambin Tomasz, Alcino Michele Calijorne, Penney Samantha, Saraiva Jorge M., Hove Hanne, Skovby Flemming, et al. , American journal of human genetics, 2015 Mar 25, (2015) Abstract
Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction., Bainbridge, Matthew N., Davis Erica E., Choi Wen-Yee, Dickson Amy, Martinez Hugo R., Wang Min, Dinh Huyen, Muzny Donna, Pignatelli Ricardo, Katsanis Nicholas, et al. , Circulation. Cardiovascular genetics, 2015 May 29, (2015) Abstract
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3., Chong, Jessica X., Burrage Lindsay C., Beck Anita E., Marvin Colby T., McMillin Margaret J., Shively Kathryn M., Harrell Tanya M., Buckingham Kati J., Bacino Carlos A., Jain Mahim, et al. , American journal of human genetics, 2015 May 7, Volume 96, Issue 5, p.841-9, (2015) Abstract
Whole-Exome Sequencing in Familial Parkinson Disease., Farlow, Janice L., Robak Laurie A., Hetrick Kurt, Bowling Kevin, Boerwinkle Eric, Coban-Akdemir Zeynep H., Gambin Tomasz, Gibbs Richard A., Gu Shen, Jain Preti, et al. , JAMA neurology, 2015 Nov 23, p.1-8, (2015) Abstract
Hemichordate genomes and deuterostome origins., Simakov, Oleg, Kawashima Takeshi, Marlétaz Ferdinand, Jenkins Jerry, Koyanagi Ryo, Mitros Therese, Hisata Kanako, Bredeson Jessen, Shoguchi Eiichi, Gyoja Fuki, et al. , Nature, 2015 Nov 26, Volume 527, Issue 7579, p.459-65, (2015) Abstract
Comparative genomic study of arachnid immune systems indicates loss of βGRPs and the IMD pathway., Bechsgaard, Jesper, Vanthournout Bram, Funch Peter, Vestbo Stine, Gibbs Richard A., Richards Stephen, Sanggaard Kristian W., Enghild Jan J., and Bilde Trine , Journal of evolutionary biology, 2015 Nov 3, (2015) Abstract
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease., Karaca, Ender, Harel Tamar, Pehlivan Davut, Jhangiani Shalini N., Gambin Tomasz, Akdemir Zeynep Coban, Gonzaga-Jauregui Claudia, Erdin Serkan, Bayram Yavuz, Campbell Ian M., et al. , Neuron, 2015 Nov 4, Volume 88, Issue 3, p.499-513, (2015) Abstract
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
The Matchmaker Exchange: a platform for rare disease gene discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors., McCullough, Laurence B., Slashinski Melody J., McGuire Amy L., Street Richard L., Eng Christine M., Gibbs Richard A., Parsons William D., and Plon Sharon E. , Pediatric blood & cancer, 2015 Oct 27, (2015) Abstract
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy., Pehlivan, Davut, Beck Christine R., Okamoto Yuji, Harel Tamar, Akdemir Zeynep H. C., Jhangiani Shalini N., Withers Marjorie A., Goksungur Meryem Tuba, Carvalho Claudia M. B., Czesnik Dirk, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Sep 17, (2015) Abstract
WGSA: an annotation pipeline for human genome sequencing studies., Liu, Xiaoming, White Simon, Peng Bo, Johnson Andrew D., Brody Jennifer A., Li Alexander H., Huang Zhuoyi, Carroll Andrew, Wei Peng, Gibbs Richard, et al. , Journal of medical genetics, 2015 Sep 22, (2015)
Association of exome sequences with plasma C-reactive protein levels in >9000 participants, Schick, U. M., Auer P. L., Bis J. C., Lin H., Wei P., Pankratz N., Lange L. A., Brody J., Stitziel N. O., Kim D. S., et al. , Human Molecular Genetics, (2014)
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11, Xie, Y., Lee W., Cai C., Gambin T., Noupuu K., Sujirakul T., Ayuso C., Jhangiani S., Muzny D., Boerwinkle E., et al. , Human Molecular Genetics, (2014)
Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35, Boonma, Prapaporn, Spinler Jennifer K., Qin Xiang, Jittaprasatsin Chutima, Muzny Donna M., Doddapaneni Harsha, Gibbs Richard, Petrosino Joe, Tumwasorn Somying, and Versalovic James , Standards in Genomic Sciences, 02/2014, Volume 9, Issue 3, p.744 - 754, (2014)
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, 03/2014, (2014)
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome, Lindstrand, Anna, Davis Erica E., Carvalho Claudia M.B., Pehlivan Davut, Willer Jason R., Tsai I-Chun, Ramanathan Subhadra, Zuppan Craig, Sabo Aniko, Muzny Donna, et al. , The American Journal of Human Genetics, 05/2014, Volume 94, Issue 5, p.745 - 754, (2014)
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations, Rainger, Joe, Pehlivan Davut, Johansson Stefan, Bengani Hemant, Sanchez-Pulido Luis, Williamson Kathleen A., Ture Mehmet, Barker Heather, Rosendahl Karen, Spranger Jürgen, et al. , The American Journal of Human Genetics, 06/2014, Volume 94, Issue 6, p.915 - 923, (2014)
Squamous Cell Carcinoma of the Oral Tongue in Young Non-Smokers Is Genomically Similar to Tumors in Older Smokers, Pickering, C. R., Zhang J., Neskey D. M., Zhao M., Jasser S. A., Wang J., Ward A., Tsai C. J., Ortega Alves M. V., Zhou J. H., et al. , Clinical Cancer Research, 07/2014, Volume 20, Issue 14, p.3842 - 3848, (2014)
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines, Huang, W., Massouras A., Inoue Y., Peiffer J., Ramia M., Tarone A. M., Turlapati L., Zichner T., Zhu D., Lyman R. F., et al. , Genome Research, 07/2014, Volume 24, Issue 7, p.1193 - 1208, (2014)
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)
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia, Stray-Pedersen, Asbjørg, Backe Paul H., Sorte Hanne S., Mørkrid Lars, Chokshi Niti Y., Erichsen Hans Christian, Gambin Tomasz, Elgstøen Katja B.P., Bjørås Magnar, Wlodarski Marcin W., et al. , The American Journal of Human Genetics, 07/2014, Volume 95, Issue 1, p.96 - 107, (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)


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