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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

Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly., Gonzaga-Jauregui, Claudia, Lotze Timothy, Jamal Leila, Penney Samantha, Campbell Ian M., Pehlivan Davut, Hunter Jill V., Woodbury Suzanne L., Raymond Gerald, Adesina Adekunle M., et al. , JAMA neurology, 2013 Oct 14, (2013) Abstract
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D., Okamoto, Yuji, Goksungur Meryem Tuba, Pehlivan Davut, Beck Christine R., Gonzaga-Jauregui Claudia, Muzny Donna M., Atik Mehmed M., Carvalho Claudia M. B., Matur Zeliha, Bayraktar Serife, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2013 Oct 17, (2013) Abstract
The Cancer Genome Atlas Pan-Cancer analysis project., Chang, Kyle, Creighton Chad J., Davis Caleb F., Donehower Lawrence, Drummond Jennifer, Wheeler David, Ally Adrian, Balasundaram Miruna, Birol Inanc, Butterfield Yaron S. N., et al. , Nature genetics, 2013 Sep 26, Volume 45, Issue 10, p.1113-20, (2013)
Whole-genome sequence–based analysis of high-density lipoprotein cholesterol, Morrison, Alanna C., Voorman Arend, Johnson Andrew D., Liu Xiaoming, Yu Jin, Li Alexander, Muzny Donna, Yu Fuli, Rice Kenneth, Zhu Chengsong, et al. , Nature Genetics, 6/2013, Volume 45, Issue 8, p.899 - 901, (2013)
Increasing the number of URMS in genomic science; (1854F)., Murray, D., Whittington D., and Gibbs R. , 62nd Annual Meeting of The American Society of Human Genetics, San Francisco, California, (2012)
Human genome sequencing in health and disease., Gonzaga-Jauregui, Claudia, Lupski James R., and Gibbs Richard A. , Annual review of medicine, 2012, Volume 63, p.35-61, (2012) Abstract
An integrative variant analysis suite for whole exome next-generation sequencing data., Challis, Danny, Yu Jin, Evani Uday S., Jackson Andrew R., Paithankar Sameer, Coarfa Cristian, Milosavljevic Aleksandar, Gibbs Richard A., and Yu Fuli , BMC bioinformatics, 2012, Volume 13, p.8, (2012) Abstract
Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms., Lu, James T., Wang Yi, Gibbs Richard A., and Yu Fuli , Genome biology, 2012, Volume 13, Issue 2, p.R15, (2012) Abstract
Integrated analyses of microRNAs demonstrate their widespread influence on gene expression in high-grade serous ovarian carcinoma., Creighton, Chad J., Hernandez-Herrera Anadulce, Jacobsen Anders, Levine Douglas A., Mankoo Parminder, Schultz Nikolaus, Du Ying, Zhang Yiqun, Larsson Erik, Sheridan Robert, et al. , PloS one, 2012, Volume 7, Issue 3, p.e34546, (2012) Abstract
Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing., Fondon, John W., Martin Andy, Richards Stephen, Gibbs Richard A., and Mittelman David , PloS one, 2012, Volume 7, Issue 3, p.e33036, (2012) Abstract
Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology., English, Adam C., Richards Stephen, Han Yi, Wang Min, Vee Vanesa, Qu Jiaxin, Qin Xiang, Muzny Donna M., Reid Jeffrey G., Worley Kim C., et al. , PloS one, 2012, Volume 7, Issue 11, p.e47768, (2012) Abstract
Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes., Qin, Xiang, Galloway-Peña Jessica R., Sillanpaa Jouko, Roh Jung Hyeob, Nallapareddy Sreedhar R., Chowdhury Shahreen, Bourgogne Agathe, Choudhury Tina, Muzny Donna M., Buhay Christian J., et al. , BMC microbiology, 2012, Volume 12, p.135, (2012) Abstract
PDX-1 is a therapeutic target for pancreatic cancer, insulinoma and islet neoplasia using a novel RNA interference platform., Liu, Shi-He, Rao Donald D., Nemunaitis John, Senzer Neil, Zhou Guisheng, Dawson David, Gingras Marie-Claude, Wang Zhaohui, Gibbs Richard, Norman Michael, et al. , PloS one, 2012, Volume 7, Issue 8, p.e40452, (2012) Abstract
Using whole-genome sequence data to predict quantitative trait phenotypes in Drosophila melanogaster., Ober, Ulrike, Ayroles Julien F., Stone Eric A., Richards Stephen, Zhu Dianhui, Gibbs Richard A., Stricker Christian, Gianola Daniel, Schlather Martin, Mackay Trudy F. C., et al. , PLoS genetics, 2012, Volume 8, Issue 5, p.e1002685, (2012) Abstract
Landscape of somatic retrotransposition in human cancers., Lee, Eunjung, Iskow Rebecca, Yang Lixing, Gokcumen Omer, Haseley Psalm, Luquette Lovelace J., Lohr Jens G., Harris Christopher C., Ding Li, Wilson Richard K., et al. , Science (New York, N.Y.), 2012 Aug 24, Volume 337, Issue 6097, p.967-71, (2012) Abstract
Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing., Powell, Bradford C., Jiang Lichun, Muzny Donna M., Treviño Lisa R., Dreyer Zoann E., Strong Louise C., Wheeler David A., Gibbs Richard A., and Plon Sharon E. , Pediatric blood & cancer, 2012 Dec 19, (2012) Abstract
Deep sequencing of systematic combinatorial libraries reveals β-lactamase sequence constraints at high resolution., Deng, Zhifeng, Huang Wanzhi, Bakkalbasi Erol, Brown Nicholas G., Adamski Carolyn J., Rice Kacie, Muzny Donna, Gibbs Richard A., and Palzkill Timothy , Journal of molecular biology, 2012 Dec 7, Volume 424, Issue 3-4, p.150-67, (2012) Abstract
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome., Campeau, Philippe M., Kim Jaeseung C., Lu James T., Schwartzentruber Jeremy A., Abdul-Rahman Omar A., Schlaubitz Silke, Murdock David M., Jiang Ming-Ming, Lammer Edward J., Enns Gregory M., et al. , American journal of human genetics, 2012 Feb 10, Volume 90, Issue 2, p.282-9, (2012) Abstract
A systematic survey of loss-of-function variants in human protein-coding genes., MacArthur, Daniel G., Balasubramanian Suganthi, Frankish Adam, Huang Ni, Morris James, Walter Klaudia, Jostins Luke, Habegger Lukas, Pickrell Joseph K., Montgomery Stephen B., et al. , Science (New York, N.Y.), 2012 Feb 17, Volume 335, Issue 6070, p.823-8, (2012) Abstract
The Drosophila melanogaster Genetic Reference Panel., Mackay, Trudy F. C., Richards Stephen, Stone Eric A., Barbadilla Antonio, Ayroles Julien F., Zhu Dianhui, Casillas Sònia, Han Yi, Magwire Michael M., Cridland Julie M., et al. , Nature, 2012 Feb 9, Volume 482, Issue 7384, p.173-8, (2012) Abstract
Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence., Cejková, Darina, Zobaníková Marie, Chen Lei, Pospíšilová Petra, Strouhal Michal, Qin Xiang, Mikalová Lenka, Norris Steven J., Muzny Donna M., Gibbs Richard A., et al. , PLoS neglected tropical diseases, 2012 Jan, Volume 6, Issue 1, p.e1471, (2012) Abstract
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions., Bamshad, Michael J., Shendure Jay A., Valle David, Hamosh Ada, Lupski James R., Gibbs Richard A., Boerwinkle Eric, Lifton Richard P., Gerstein Mark, Gunel Murat, et al. , American journal of medical genetics. Part A, 2012 Jul, Volume 158A, Issue 7, p.1523-5, (2012) Abstract
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura., Lotta, Luca A., Wu Haifeng M., Mackie Ian J., Noris Marina, Veyradier Agnes, Scully Marie A., Remuzzi Giuseppe, Coppo Paul, Liesner Ri, Donadelli Roberta, et al. , Blood, 2012 Jul 12, Volume 120, Issue 2, p.440-8, (2012) Abstract
Genomic sequencing of key genes in mouse pancreatic cancer cells., Wang, Y., Zhang Y., Yang J., Ni X., Liu S., Li Z., Hodges S. E., Fisher W. E., Brunicardi F. C., Gibbs R. A., et al. , Current molecular medicine, 2012 Mar, Volume 12, Issue 3, p.331-41, (2012) Abstract
Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes., Hughes, Jennifer F., Skaletsky Helen, Brown Laura G., Pyntikova Tatyana, Graves Tina, Fulton Robert S., Dugan Shannon, Ding Yan, Buhay Christian J., Kremitzki Colin, et al. , Nature, 2012 Mar 1, Volume 483, Issue 7387, p.82-6, (2012) Abstract


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