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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

The genomes of two key bumblebee species with primitive eusocial organization., Sadd, Ben M., Barribeau Seth M., Bloch Guy, de Graaf Dirk C., Dearden Peter, Elsik Christine G., Gadau Jürgen, Grimmelikhuijzen Cornelis J. P., Hasselmann Martin, Lozier Jeffrey D., et al. , Genome biology, 2015 Apr 24, Volume 16, Issue 1, p.76, (2015) Abstract
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease., Li, Alexander H., Morrison Alanna C., Kovar Christie, Cupples Adrienne L., Brody Jennifer A., Polfus Linda M., Yu Bing, Metcalf Ginger, Muzny Donna, Veeraraghavan Narayanan, et al. , Nature genetics, 2015 Apr 27, (2015) Abstract
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI., Bayram, Yavuz, Aydin Hatip, Gambin Tomasz, Akdemir Zeynep Coban, Atik Mehmed M., Karaca Ender, Karaman Ali, Pehlivan Davut, Jhangiani Shalini N., Gibbs Richard A., et al. , American journal of medical genetics. Part A, 2015 Apr 6, (2015) Abstract
Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia., Ramasamy, Ranjith, Bakırcıoğlu Emre M., Cengiz Cenk, Karaca Ender, Scovell Jason, Jhangiani Shalini N., Akdemir Zeynep C., Bainbridge Matthew, Yu Yao, Huff Chad, et al. , Fertility and sterility, 2015 Aug, Volume 104, Issue 2, p.286-91, (2015) Abstract
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy., Gonzaga-Jauregui, Claudia, Harel Tamar, Gambin Tomasz, Kousi Maria, Griffin Laurie B., Francescatto Ludmila, Ozes Burcak, Karaca Ender, Jhangiani Shalini N., Bainbridge Matthew N., et al. , Cell reports, 2015 Aug 18, Volume 12, Issue 7, p.1169-83, (2015) Abstract
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome., Karaca, Ender, Yuregir Ozge O., Bozdogan Sevcan T., Aslan Huseyin, Pehlivan Davut, Jhangiani Shalini N., Akdemir Zeynep C., Gambin Tomasz, Bayram Yavuz, Atik Mehmed M., et al. , American journal of medical genetics. Part A, 2015 Aug 4, (2015) Abstract
Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes., Wang, Linghua, Ni Xiao, Covington Kyle R., Yang Betty Y., Shiu Jessica, Zhang Xiang, Xi Liu, Meng Qingchang, Langridge Timothy, Drummond Jennifer, et al. , Nature genetics, 2015 Dec, Volume 47, Issue 12, p.1426-34, (2015) Abstract
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk., Yu, Bing, Pulit Sara L., Hwang Shih-Jen, Brody Jennifer A., Amin Najaf, Auer Paul L., Bis Joshua C., Boerwinkle Eric, Burke Gregory L., Chakravarti Aravinda, et al. , Circulation. Cardiovascular genetics, 2015 Dec 11, (2015) Abstract
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses., Campbell, Ian M., Gambin Tomasz, Jhanghiani Shalini, Grove Megan L., Veeraraghavan Narayanan, Muzny Donna, Shaw Chad A., Gibbs Richard A., Boerwinkle Eric, Yu Fuli, et al. , Human mutation, 2015 Dec 16, (2015) Abstract
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome., Burrage, Lindsay C., Charng Wu-Lin, Eldomery Mohammad K., Willer Jason R., Davis Erica E., Lugtenberg Dorien, Zhu Wenmiao, Leduc Magalie S., Akdemir Zeynep C., Azamian Mahshid, et al. , American journal of human genetics, 2015 Dec 3, Volume 97, Issue 6, p.904-13, (2015) Abstract
Molecular diagnostic experience of whole-exome sequencing in adult patients., Posey, Jennifer E., Rosenfeld Jill A., James Regis A., Bainbridge Matthew, Niu Zhiyv, Wang Xia, Dhar Shweta, Wiszniewski Wojciech, Akdemir Zeynep H. C., Gambin Tomasz, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Dec 3, (2015) Abstract
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes., Yuan, Bo, Pehlivan Davut, Karaca Ender, Patel Nisha, Charng Wu-Lin, Gambin Tomasz, Gonzaga-Jauregui Claudia, Sutton Reid V., Yesil Gozde, Bozdogan Sevcan Tug, et al. , The Journal of clinical investigation, 2015 Feb, Volume 125, Issue 2, p.636-51, (2015) Abstract
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy., McMichael, G., Bainbridge M. N., Haan E., Corbett M., Gardner A., Thompson S., van Bon B. W. M., van Eyk C. L., Broadbent J., Reynolds C., et al. , Molecular psychiatry, 2015 Feb, Volume 20, Issue 2, p.176-82, (2015) Abstract
Do echinoderm genomes measure up?, Cameron, Andrew R., Kudtarkar Parul, Gordon Susan M., Worley Kim C., and Gibbs Richard A. , Marine genomics, 2015 Feb 17, (2015) Abstract
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy., Collison, Frederick T., Xie Yajing Angela, Gambin Tomasz, Jhangiani Shalini, Muzny Donna, Gibbs Richard, Lupski James R., Fishman Gerald A., and Allikmets Rando , Ophthalmic genetics, 2015 Feb 17, p.1-6, (2015) Abstract
The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes., Challis, Danny, Antunes Lilian, Garrison Erik, Banks Eric, Evani Uday S., Muzny Donna, Poplin Ryan, Gibbs Richard A., Marth Gabor, and Yu Fuli , BMC genomics, 2015 Feb 28, Volume 16, Issue 1, p.143, (2015) Abstract
Structure-activity analysis of human ghrelin O-acyltransferase reveals chemical determinants of ghrelin selectivity and acyl group recognition., Darling, Joseph E., Zhao Feifei, Loftus Rosemary J., Patton Leslie M., Gibbs Richard A., and Hougland James L. , Biochemistry, 2015 Feb 3, Volume 54, Issue 4, p.1100-10, (2015) Abstract
Germline mutations in shelterin complex genes are associated with familial glioma., Bainbridge, Matthew N., Armstrong Georgina N., Gramatges Monica M., Bertuch Alison A., Jhangiani Shalini N., Doddapaneni Harsha, Lewis Lora, Tombrello Joseph, Tsavachidis Spyros, Liu Yanhong, et al. , Journal of the National Cancer Institute, 2015 Jan, Volume 107, Issue 1, (2015) Abstract
Germline mutations in shelterin complex genes are associated with familial glioma., Bainbridge, Matthew N., Armstrong Georgina N., Gramatges Monica M., Bertuch Alison A., Jhangiani Shalini N., Doddapaneni Harsha, Lewis Lora, Tombrello Joseph, Tsavachidis Spyros, Liu Yanhong, et al. , Journal of the National Cancer Institute, 2015 Jan, Volume 107, Issue 1, p.384, (2015) Abstract
Coronary heart disease and genetic variants with low phospholipase A2 activity., Polfus, Linda M., Gibbs Richard A., and Boerwinkle Eric , The New England journal of medicine, 2015 Jan 15, Volume 372, Issue 3, p.295-6, (2015)
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing., Ritter, Deborah I., Haines Katherine, Cheung Hannah, Davis Caleb F., Lau Ching C., Berg Jonathan S., Brown Chester W., Thompson Patrick A., Gibbs Richard, Wheeler David A., et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Jan 8, (2015) Abstract
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine Levels and Incident Coronary Heart Disease., Yu, Bing, Li Alexander H., Muzny Donna, Veeraraghavan Narayanan, de Vries Paul S., Bis Joshua C., Musani Solomon K., Alexander Danny, Morrison Alanna C., Franco Oscar H., et al. , Circulation. Cardiovascular genetics, 2015 Jan 8, (2015) Abstract
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing., Ritter, Deborah I., Haines Katherine, Cheung Hannah, Davis Caleb F., Lau Ching C., Berg Jonathan S., Brown Chester W., Thompson Patrick A., Gibbs Richard, Wheeler David A., et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Jan 8, (2015) Abstract
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities., Chong, Jessica X., Buckingham Kati J., Jhangiani Shalini N., Boehm Corinne, Sobreira Nara, Smith Joshua D., Harrell Tanya M., McMillin Margaret J., Wiszniewski Wojciech, Gambin Tomasz, et al. , American journal of human genetics, 2015 Jul 8, (2015) Abstract
Genomic Signatures of Cooperation and Conflict in the Social Amoeba., Ostrowski, Elizabeth A., Shen Yufeng, Tian Xiangjun, Sucgang Richard, Jiang Huaiyang, Qu Jiaxin, Katoh-Kurasawa Mariko, Brock Debra A., Dinh Christopher, Lara-Garduno Fremiet, et al. , Current biology : CB, 2015 Jun 15, Volume 25, Issue 12, p.1661-5, (2015) Abstract


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