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Eric Boerwinkle, Ph.D.

Associate Director, Baylor College of Medicine Human Genome Sequencing Center

Eric Boerwinkle, Ph.D.Contact information

eboerwin@bcm.edu

Other positions

Professor and Director, IMM Center for Human Genetics

Kozmetsky Family Chair in Human Genetics

Professor and Director, Division of Epidemiology, School of Public Health

Research interests

The research interests of Dr. Boerwinkle encompass the genetic analysis of the common chronic diseases in humans, including coronary artery disease, hypertension, and non-insulin dependent (type II) diabetes.

Dr. Boerwinkle received his B.S. in Biology from the University of Cincinnati in 1980, an M.A. in Statistics (1984), and M.S. and Ph.D. in Human Genetics (1985) from the University of Michigan, Ann Arbor where he served as Senior Research Associate in the Department of Human Genetics from 1985-1986. He joined the University of Texas-Houston Center for Demographic/ Population Genetics in 1986 as a Research Assistant and became Assistant Professor in the same year. In 1991 he joined the Department of Human Genetics at the School of Public Health, University of Texas-Houston Health Science Center as Associate Professor, in 1996 was promoted to Professor, and in 1997, Director of the Human Genetics Center. He became a faculty member of the Institute of Molecular Medicine in 1996 and became Professor and Director of the Research Center for Human Genetics.

Dr. Boerwinkle is a member of the American Diabetes Association and the American Society of Human Genetics. The research interests of Dr. Boerwinkle encompass the genetic analysis of common chronic diseases in humans, including coronary artery disease, hypertension, and non-insulin dependent (type II) diabetes. This work includes localizing genes which contribute to disease risk, identification of potentially functional mutations within these genes, testing these candidate functional mutations in experimental systems, defining the impact of gene variation on the epidemiology of disease, and determining the extent to which these genes interact with environmental factors to contribute to disease risk. Activities include both statistical analysis and laboratory work. A large part of Dr. Boerwinkle's current research effort consist of localizing genes contributing to disease risk using modern genome-wide mapping methods. Success depends on keeping up with the latest genomic technical advances. The laboratory is set-up and operating as a high through-put sequencing and genotyping facility in which speed, accuracy and efficiency are monitored continuously. However, we are constantly seeking out more efficient methods to collect and manage genetic information.

Dr. Boerwinkle and colleagues have completed the world's first genome-wide analyses for a variety of CAD risk factors, including diabetes and hypertension. These investigations have lead to the identification of novel susceptibility genes in both cases. Dr. Boerwinkle is particularly interested in methods for identifying potentially functional mutations within a gene region. This seemingly simple objective is made difficult because the functional mutations are expected to have small effects and are imbedded in a sea of silent genetic variation. Once nearly all of the variation is catalogued directly by DNA sequencing, individuals are genotyped for each variable site. Both novel and traditional statistical methods are applied to relate the array of genetic information to a wealth of phenotypic data. This algorithm generates "candidate functional mutations" that are then tested in an in vitro or mouse model system. Once a functional mutation has been identified, Dr. Boerwinkle's group evaluates the ability of the variable site to predict the onset of disease (e.g. myocardial infarction or stroke) above and beyond traditional risk factors. This work is carried out as part of multiple prospective studies of cardiovascular disease and its risk factors in tens of thousands of individuals representing the major American ethnic groups.

Finally, he is working on experimental designs for studying genotype by environment interaction in humans. In particular, we are working on the extent to which interindividual variation in lipid lowering and anti-hypertensive medications are influenced by genetic factors. The practical objective of the research is to use genetic information to identify individuals at increase risk of disease and to design more efficacious interventions. Genetic studies are defining, at the molecular level, novel mechanisms of disease risk, onset and progression. Dr. Boerwinkle and collaborators address the localization of genes which contribute to disease risk in cardiovascular diseases, hypertension and diabetes. The methodology used involves screening of families having the disease and linking the presence of disease with known markers of the human genome. In this manner, the genomic region in which relevant mutations are located can be mapped and the relevant DNA sequenced. By assessing the structural change the mutation may have caused in the gene product (protein), it is possible to infer how it may affect biological function. In order to determine experimentally whether a mutation is functional, it is necessary to introduce the mutated gene into an animal, usually a mouse, and assess its biological effects on the animal's phenotype.

Dr. Boerwinkle has participated in multiple notable discoveries since joining the Institute. Only two will be highlighted here. First, Dr. Boerwinkle's group has completed the first ever genome-wide search for genes contributing to inter-individual blood pressure levels. This initial effort has lead to the identification of an important gene (an adrenergic receptor) which influences blood pressure levels and the risk to hypertension. This is the first time that such a genome-wide approach has led to the identification of a susceptibility gene to a major cardiovascular disease risk factor. Second, Dr. Boerwinkle has participated in similar efforts to identify genes contributing to the risk of developing non-insulin dependent (type II) diabetes. In this case, however, there were no genes in the region that were suspects for the disease. A team of collaborating investigators have painstakingly characterized the genetic region and identified the mutated gene (in this case a protease). This is the first time that anyone has ever positionally cloned a gene contributing to any common chronic disease. This work is of obvious potential clinical importance. It may lead to improved prediction of those at increased risk of disease and the design of more efficacious intervention strategies. The technologies and information from the human genome project provide new tools for lessening the burden of ill-health. Dr. Boerwinkle's accomplishments in developing an internationally recognized team of investigators targeting the genetics of cardiovascular disease and its risk factors ensures a productive future and further discoveries.

Publications

New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy., Riveiro-Álvarez, Rosa, Xie Yajing Angela, López-Martínez Miguel-Ángel, Gambin Tomasz, Pérez-Carro Raquel, Avila-Fernández Almudena, López-Molina María-Isabel, Zernant Jana, Jhangiani Shalini, Muzny Donna, et al. , JAMA ophthalmology, 2014 Oct 30, (2014) Abstract
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome., Bayram, Yavuz, Pehlivan Davut, Karaca Ender, Gambin Tomasz, Jhangiani Shalini N., Erdin Serkan, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna, Elcioglu Nursel H., et al. , American journal of medical genetics. Part A, 2014 Sep, Volume 164A, Issue 9, p.2328-34, (2014) Abstract
A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases., Yamamoto, Shinya, Jaiswal Manish, Charng Wu-Lin, Gambin Tomasz, Karaca Ender, Mirzaa Ghayda, Wiszniewski Wojciech, Sandoval Hector, Haelterman Nele A., Xiong Bo, et al. , Cell, 2014 Sep 25, Volume 159, Issue 1, p.200-14, (2014) Abstract
Transethnic meta-analysis suggests genetic variation in the HEME pathway influences potassium response in patients treated with hydrochlorothiazide., Del-Aguila, J. L., Cooper-DeHoff R. M., Chapman A. B., Gums J. G., Beitelshees A. L., Bailey K., Turner S. T., Johnson J. A., and Boerwinkle E. , The pharmacogenomics journal, 2014 Sep 9, (2014) Abstract
Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes, Li, Quan, Liu Xiaoming, Gibbs Richard A., Boerwinkle Eric, Polychronakos Constantin, and Qu Hui-Qi , PLoS ONE, 8/2014, Volume 9, Issue 8, p.e104452, (2014)
A framework for the interpretation of de novo mutation in human disease, Samocha, Kaitlin E., Robinson Elise B., Sanders Stephan J., Stevens Christine, Sabo Aniko, McGrath Lauren M., Kosmicki Jack A., Rehnström Karola, Mallick Swapan, Kirby Andrew, et al. , Nature Genetics, 8/2014, Volume 46, Issue 9, p.944 - 950, (2014)
Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium., Grove, Megan L., Yu Bing, Cochran Barbara J., Haritunians Talin, Bis Joshua C., Taylor Kent D., Hansen Mark, Borecki Ingrid B., Cupples Adrienne L., Fornage Myriam, et al. , PloS one, 2013, Volume 8, Issue 7, p.e68095, (2013) Abstract
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls., Liu, Li, Sabo Aniko, Neale Benjamin M., Nagaswamy Uma, Stevens Christine, Lim Elaine, Bodea Corneliu A., Muzny Donna, Reid Jeffrey G., Banks Eric, et al. , PLoS genetics, 2013 Apr, Volume 9, Issue 4, p.e1003443, (2013) Abstract
Metabolomics and incident hypertension among blacks: the atherosclerosis risk in communities study., Zheng, Yan, Yu Bing, Alexander Danny, Mosley Thomas H., Heiss Gerardo, Nettleton Jennifer A., and Boerwinkle Eric , Hypertension, 2013 Aug, Volume 62, Issue 2, p.398-403, (2013) Abstract
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, 2013 Aug, Volume 45, Issue 8, p.899-901, (2013) Abstract
Genome-Wide Association Study of a Heart Failure Related Metabolomic Profile Among African Americans in the Atherosclerosis Risk in Communities (ARIC) Study., Yu, Bing, Zheng Yan, Alexander Danny, Manolio Teri A., Alonso Alvaro, Nettleton Jennifer A., and Boerwinkle Eric , Genetic epidemiology, 2013 Aug 11, (2013) Abstract
Associations between metabolomic compounds and incident heart failure among African Americans: the ARIC Study., Zheng, Yan, Yu Bing, Alexander Danny, Manolio Teri A., Aguilar David, Coresh Josef, Heiss Gerardo, Boerwinkle Eric, and Nettleton Jennifer A. , American journal of epidemiology, 2013 Aug 15, Volume 178, Issue 4, p.534-42, (2013) Abstract
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies., Yu, Bing, Barbalic Maja, Brautbar Ariel, Nambi Vijay, Hoogeveen Ron C., Tang Weihong, Mosley Thomas H., Rotter Jerome I., deFilippi Christopher R., O'Donnell Christopher J., et al. , Circulation. Cardiovascular genetics, 2013 Feb, Volume 6, Issue 1, p.82-8, (2013) Abstract
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes., Wang, Q. Y., Song J., Gibbs R. A., Boerwinkle E., Dong J. F., and Yu F. L. , Journal of thrombosis and haemostasis : JTH, 2013 Feb, Volume 11, Issue 2, p.261-9, (2013) Abstract
Seafood consumption and blood mercury concentrations in Jamaican children with and without autism spectrum disorders., Rahbar, Mohammad H., Samms-Vaughan Maureen, Loveland Katherine A., Ardjomand-Hessabi Manouchehr, Chen Zhongxue, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., Bloom Kari, Pearson Deborah A., et al. , Neurotoxicity research, 2013 Jan, Volume 23, Issue 1, p.22-38, (2013) Abstract
Fat mass and obesity gene and cognitive decline: the Atherosclerosis Risk in Communities Study., Bressler, Jan, Fornage Myriam, Demerath Ellen W., Knopman David S., Monda Keri L., North Kari E., Penman Alan, Mosley Thomas H., and Boerwinkle Eric , Neurology, 2013 Jan 1, Volume 80, Issue 1, p.92-9, (2013) Abstract
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders., Lim, Elaine T., Raychaudhuri Soumya, Sanders Stephan J., Stevens Christine, Sabo Aniko, MacArthur Daniel G., Neale Benjamin M., Kirby Andrew, Ruderfer Douglas M., Fromer Menachem, et al. , Neuron, 2013 Jan 23, Volume 77, Issue 2, p.235-42, (2013) Abstract
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
APOE Modulates the Correlation Between Triglycerides, Cholesterol, and CHD Through Pleiotropy and Gene-by-Gene Interactions., Maxwell, Taylor J., Ballantyne Christie M., Cheverud James M., Guild Cameron S., Ndumele Chiadi E., and Boerwinkle Eric , Genetics, 2013 Oct 4, (2013) Abstract
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations., Liu, Xiaoming, Jian Xueqiu, and Boerwinkle Eric , Human mutation, 2013 Sep, Volume 34, Issue 9, p.E2393-402, (2013) Abstract
Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida., Agopian, A. J., Bhalla Angela D., Boerwinkle Eric, Finnell Richard H., Grove Megan L., Hixson James E., Shimmin Lawrence C., Sewda Anshuman, Stuart Colin, Zhong Yu, et al. , Birth defects research. Part A, Clinical and molecular teratology, 2013 Sep, Volume 97, Issue 9, p.597-601, (2013) Abstract
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)
PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population., Li, Quan, Qu Hui-Qi, Rentfro Anne R., Grove Megan L., Mirza Shaper, Lu Yang, Hanis Craig L., Fallon Michael B., Boerwinkle Eric, Fisher-Hoch Susan P., et al. , Clinical and investigative medicine. Médecine clinique et experimentale, 2012, Volume 35, Issue 4, p.E237-45, (2012) Abstract
Population-based risk factors for elevated alanine aminotransferase in a South Texas Mexican-American population., Qu, Hui-Qi, Li Quan, Grove Megan L., Lu Yang, Pan Jen-Jung, Rentfro Anne R., Bickel Perry E., Fallon Michael B., Hanis Craig L., Boerwinkle Eric, et al. , Archives of medical research, 2012 Aug, Volume 43, Issue 6, p.482-8, (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


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