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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

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations., Wang, Min, Beck Christine R., English Adam C., Meng Qingchang, Buhay Christian, Han Yi, Doddapaneni Harsha V., Yu Fuli, Boerwinkle Eric, Lupski James R., et al. , BMC genomics, 2015, Volume 16, Issue 1, p.214, (2015) Abstract
Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventions., Anstead, Clare A., Korhonen Pasi K., Young Neil D., Hall Ross S., Jex Aaron R., Murali Shwetha C., Hughes Daniel S. T., Lee Siu F., Perry Trent, Stroehlein Andreas J., et al. , Nature communications, 2015, Volume 6, p.7344, (2015) Abstract
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions., Yu, Fuli, Lu Jian, Liu Xiaoming, Gazave Elodie, Chang Diana, Raj Srilakshmi, Hunter-Zinck Haley, Blekhman Ran, Arbiza Leonardo, Van Hout Cris, et al. , PloS one, 2015, Volume 10, Issue 3, p.e0121644, (2015) Abstract
16S gut community of the Cameron County Hispanic Cohort., Ross, Matthew C., Muzny Donna M., McCormick Joseph B., Gibbs Richard A., Fisher-Hoch Susan P., and Petrosino Joseph F. , Microbiome, 2015, Volume 3, p.7, (2015) Abstract
Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium., Jalali, Ali, Amirian Susan E., Bainbridge Matthew N., Armstrong Georgina N., Liu Yanhong, Tsavachidis Spyros, Jhangiani Shalini N., Plon Sharon E., Lau Ching C., Claus Elizabeth B., et al. , Scientific reports, 2015, Volume 5, p.8278, (2015) Abstract
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility., Wessel, Jennifer, Chu Audrey Y., Willems Sara M., Wang Shuai, Yaghootkar Hanieh, Brody Jennifer A., Dauriz Marco, Hivert Marie-France, Raghavan Sridharan, Lipovich Leonard, et al. , Nature communications, 2015, Volume 6, p.5897, (2015) Abstract
FBN1 contributing to familial congenital diaphragmatic hernia., Beck, Tyler F., Campeau Philippe M., Jhangiani Shalini N., Gambin Tomasz, Li Alexander H., Abo-Zahrah Reem, Jordan Valerie K., Hernandez-Garcia Andres, Wiszniewski Wojciech K., Muzny Donna, et al. , American journal of medical genetics. Part A, 2015 Apr, Volume 167, Issue 4, p.831-6, (2015) Abstract
Assessing structural variation in a personal genome-towards a human reference diploid genome., English, Adam C., Salerno William J., Hampton Oliver A., Gonzaga-Jauregui Claudia, Ambreth Shruthi, Ritter Deborah I., Beck Christine R., Davis Caleb F., Dahdouli Mahmoud, Ma Singer, et al. , BMC genomics, 2015 Apr 11, Volume 16, Issue 1, p.286, (2015) Abstract
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies., Dong, Chengliang, Wei Peng, Jian Xueqiu, Gibbs Richard, Boerwinkle Eric, Wang Kai, and Liu Xiaoming , Human molecular genetics, 2015 Apr 15, Volume 24, Issue 8, p.2125-37, (2015) Abstract
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis., Pehlivan, Davut, Akdemir Zeynep Coban, Karaca Ender, Bayram Yavuz, Jhangiani Shalini, Yildiz Edibe Pembegul, Muzny Donna, Uluc Kayihan, Gibbs Richard A., Elcioglu Nursel, et al. , Human genetics, 2015 Apr 17, (2015) Abstract
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome., Posey, Jennifer E., Burrage Lindsay C., Campeau Philippe M., Lu James T., Eble Tanya N., Kratz Lisa, Schlesinger Alan E., Gibbs Richard A., Lee Brendan H., and Nagamani Sandesh C. S. , American journal of medical genetics. Part A, 2015 Apr 2, (2015) Abstract
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis., Watkin, Levi B., Jessen Birthe, Wiszniewski Wojciech, Vece Timothy J., Jan Max, Sha Youbao, Thamsen Maike, Santos-Cortez Regie L. P., Lee Kwanghyuk, Gambin Tomasz, et al. , Nature genetics, 2015 Apr 20, (2015) Abstract
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
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
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
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
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)
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


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