Frontiers in Population Genomics Research Meeting: Participants

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Frontiers in Population Genomics Research Meeting

Participants

Gregory L. Burke, M.D., M.Sc.

Gregory L. Burke, M.D., M.Sc.
Professor and Director, Department of Public Health Sciences,
Wake Forest University School of Medicine
Winston-Salem, NC


University of Iowa, M.D.
University of Iowa, M.S.

Gregory L. Burke is professor and chair of the Department of Public Health Sciences at Wake Forest University Health Sciences. Dr. Burke earned an M.D. degree in 1981 from the UI Roy J. and Lucille A. Carver College of Medicine and an M.S. degree in Preventive Medicine and Epidemiology in 1983. A widely recognized leader in the study of cardiovascular disease, Dr. Burke has participated in many of the largest national multi-center epidemiologic studies and clinical trials. Currently, he is immediate past chair of the American Heart Association's Council on Epidemiology and Prevention, a member of the National Heart Lung and Blood Institute Board of Extramural Advisors, and chair of many national NIH committees.

Dr. Burke worked closely with NHGRI on the development of design considerations for a potential United States population-based cohort.


Lon R. Cardon, Ph.D., M.A.

Lon R. Cardon, Ph.D., M.A.
Member, Human Biology Division, Fred Hutchinson Cancer Research Center, Professor, Department of Biostatistics, University of Washington School of Public Health and Community Medicine
University of Washington, Seattle, WA


University of Colorado, Ph.D., Quantitative Genetics
University of Colorado, M.A. Quantitative Genetics
University of Puget Sound, B.A., Biology, Psychology

Lon R. Cardon, Ph.D., leads research projects and collaborations that span a number of different areas, all of which are wedded to a single common theme of identifying genetic influences on complex human phenotypes. His research involves computational, statistical and epidemiological aspects of genetic study design and execution.

Dr. Cardon is involved in a number of collaborative projects covering a diverse spectrum of traits, including reading disability and language disorders, type 2 diabetes and metabolic syndrome, osteoporosis, Huntington's Disease and inflammatory bowel disease. His principal interest in these different phenotypes lies in their worldwide medical or social importance and the potential for identifying some of their etiological factors via population- or family-based studies.

Recently, Dr. Cardon's research has focused on genome-wide association mapping of complex human diseases. He was a founding investigator of the Wellcome Trust Case Control Consortium, the biggest association study yet conducted, involving 17,000 individuals in 7 common diseases, including bipolar disorder, Crohn's disease, Type 1 and Type 2 diabetes, hypertension, coronary heart disease and rheumatoid arthritis. This study led to the identification of more than 20 disease genes. He is currently leading the design and analysis of a number of additional genome-wide studies and designing sophisticated follow-up studies of the initial findings.

It is Dr. Cardon's goal that this work will lead to more precise definitions of disease that lend themselves to better diagnostics and improved treatment.


Stephen J. Chanock, M.D.

Stephen J. Chanock, M.D.
Chief, Laboratory of Translational Genomics
Director, Core Genotyping Facility at Advanced
Technology Center, Division of Cancer Epidemiology and Genetics, Office of the Director
National Cancer Institute, National Institutes of Health Bethesda, MD


Harvard Medical School, M.D.

Dr. Chanock received his M.D. from Harvard Medical School and completed training in pediatrics, pediatric infectious diseases, and pediatric hematology/oncology at Boston Children's Hospital and the Dana-Farber Cancer Institute, Boston. Afterwards, he joined the NCI where he has an interest in the molecular, cellular, and clinical problems of infectious complications in patients with cancer and HIV infection.

The goal of the laboratory is to develop new approaches to the study of the genetic basis of cancer and its outcomes, such as infectious complications. The major focus has been on annotating candidate genes, drawn from key pathways in innate immunity and cancer biology, such as telomere stability or nutrient transport (i.e., Vitamin C sodium dependent transport). Specifically, the laboratory has developed approaches to identify and validate common genetic variants, most often, single nucleotide polymorphisms, SNPs, in an effort to define common ancestral haplotypes. In turn, haplotypes as well as SNPs with defined functional consequences (i.e., alteration in function or expression) are applied to studies to determine genetic factors contributing to cancer and its outcomes.

Dr. Chanock has worked closely with NHGRI/OPG in the development of procedures for data receipt and distribution aspects and chairs the Data Access Committee of the Cancer Genetic Markers of Susceptibility (CGEMS) project, of which he is also a principal investigator. He also worked closely with NHGRI/OPG on the 2006 and 2007 Multi-IC Symposia on Application of Genomic Technologies to Population Studies and co-chaired the NCI-NHGRI Replication Workshop.


Rex L. Chisholm, Ph.D.

Rex L. Chisholm, Ph.D.
Director, Center for Genetic Medicine and Department of Cell and Molecular Biology, Northwestern University Medical School, Chicago, IL


University of Michigan, Ph.D.

Dr. Chisholm received both his bachelor's and doctoral degrees from the University of Michigan where he was a trainee of the NIH training program in Genetics. As a doctoral student Dr. Chisholm investigated recombination between DNA introduced into cells and cellular chromosomes, a process critical for the genetic modification of animal cells and animals. As a postdoctoral fellow at the Massachusetts Institute of Technology, he developed methods for analyzing the patterns of gene expression during development. Since 1984 Dr. Chisholm has been on the faculty of Northwestern University where his research program uses genetic and molecular genetic approaches to investigate the fundamental process of cell motility. These studies have contributed to our understanding of processes such as wound healing, tumor metastasis, and embryonic development. Author of over 100 scientific papers and abstracts, Dr. Chisholm has served as a member of scientific review committees for the National Institutes of Health and the American Cancer Society. He also served as Director of the Biomedical Hands-on-Laboratory of the Science Writing Fellowships Program at the Marine Biological Laboratory. Dr. Chisholm received a Basil O'Connor Fellowship from the March of Dimes and was elected a fellow of the American Association for the Advancement of Science. Currently Dr. Chisholm is director of the Center for Genetic Medicine, a partnership between Northwestern University, Northwestern Memorial Hospital, Children's Memorial Hospital and Evanston Northwestern Healthcare that facilitates the development of new genetic knowledge and its application to medicine. In addition to his scientific pursuits, Dr. Chisholm is especially interested in the public understanding of science.

Dr. Chisholm is principal investigator of NUgene project and chairs the Steering Committee of the eMERGE network for genomic research in biorepositories.


Christopher G. Chute, M.D., Dr.P.H.

Christopher G. Chute, M.D., Dr.P.H.
Professor and Chair, Department of Biomedical Informatics, Mayo Clinic College of Medicine and the Center for Bioethics, University of Minnesota, Rochester, MN


Harvard University, Dr.P.H.
Brown University, M.D.
Brown University, B.S.

Dr. Chute presently Chairs the Division of Biomedical Informatics, overseeing a program of applied research and development focusing upon clinical and genomic data sources, management, standardization, and interpretation. His research focus is in the domain of terminology and ontology, and in particular upon scalable terminology services that can be used across biology and medicine. He is principal investigator on the LexGrid project, an open-source implementation and framework for the ANSI and ISO standard Common Terminology Services through HL7. This work has been adopted by Cancer Bioinformatics Grid (caBIG) at NCI, and the Public Health Informatics Network (PHIN) at CDC. LexGrid also provides the core infrastructure for the NIH Roadmap project at the National Center for Biomedical Ontologies (NCBO).

Dr. Chute is principal investigator of the Mayo site of the eMERGE network for genomic research in biorepositories.


Richard A. Cooper, M.D.

Richard A. Cooper, M.D.
Professor and Chair
Department of Preventive Medicine and Epidemiology
Loyola University Medical School
Maywood, IL


University of Arkansas, M.D.
University of Pennsylvania, B.A.

Richard Cooper is a physician epidemiologist with an interest in cardiovascular disease. Dr. Cooper has experience with patient registries, community surveys, and genetic epidemiology. Major research interests include epidemiology of cardiovascular diseases, with emphasis on black populations, hypertension in blacks, genetics of hypertension and racial differentials in disease and the concept of race in public health and epidemiology.


Martha L. Daviglus, M.D., Ph.D., M.P.H.

Martha L. Daviglus, M.D., Ph.D., M.P.H.
Professor of Preventive Medicine and Medicine, Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL


University of St. Simon School of Medicine, M.D.
University of Illinois, Ph.D., Epidemiology
University of South Florida, M.P.H.

Dr. Daviglus is a cardiovascular epidemiologist studying associations between cardiovascular disease risk factors, particularly favorable levels (low risk), with health care costs, quality of life, and cardiovascular events. Dr. Daviglus has considerable expertise linking and analyzing Health Care Financing Administration (Medicare) data in longitudinal studies. In addition to serving as a methodologic mentor within cardiovascular epidemiology, Dr. Daviglus can facilitate access to large cohorts for the study of vascular disease, including the MESA cohort, for which she is a co-investigator.

Her research activities have concentrated on the epidemiology and prevention of cardiovascular diseases. She has been involved in investigating associations of traditional cardiovascular and nutritional factors with long-term coronary and cardiovascular morbidity and mortality in middle-aged and older men and women. She has developed expertise in linking and analyzing Health Care Financing Administration (Medicare) data as endpoints in longitudinal studies. Dr. Daviglus' other research interests focus on the benefits in older age, in terms of health care costs and health-related quality of life, associated with favorable cardiovascular risk profile. She also is principal investigator of the Chicago site of the about-to-be-launched Hispanic Community Health Study.


Marcella Devoto, Ph.D.

Marcella Devoto, Ph.D.
Associate Professor of Pediatrics and Epidemiology at Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA


University of Bologna, Italy, Ph.D., Statistics
University of Oxford, UK, M.Sc., Applied Statistics

My main research interest is in the application and development of statistical genetic methods to identify the genes responsible for human disorders and underlying susceptibility to complex genetic traits. My research group uses a variety of statistical genetic methods to carry out linkage analysis and genetic association studies for disease gene mapping in families and patients with different disorders.

In one of our studies, we performed a linkage analysis in extended pedigrees of individuals with low bone mineral density (BMD), the single most important risk factor for osteoporosis. My group also has a research focus on identifying modifier genes for rare genetic disease. While in many cases the major gene responsible for a genetic disorder has been identified, little is known about what affects the expressivity of the clinical phenotype. In many cases the phenotype is variable even among individuals within the same families or carriers of the same major gene mutation. One possibility for this variety is that common genetic variants, or SNPs, act as modifiers of the main gene.

In addition, we are studying candidate genes for congenital cardiac defects in collaboration with Deborah Driscoll, MD. Identifying the genetic defects underlying these conditions will help us to understand the pathogenesis, provide genetic counseling for families at risk of recurrence of these diseases and devise new diagnostic and therapeutic strategies.

Other research projects in my group that are currently in preparation or awaiting funding include genome-wide association search for genetic determinants of asthma, ADHD, neuroblastoma and high-density lipoprotein cholesterol.


Montserrat Garcia-Closas, M.D., M.P.H., Dr.P.H.

Montserrat Garcia-Closas, M.D., M.P.H., Dr.P.H.
Senior Investigator, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD


University of Barcelona, M.D.
Harvard School of Public Health, M.P.H.
Harvard School of Public Health, Dr. P.H., Epidemiology

Dr. Garcia-Closas received an M.D. from the University of Barcelona in 1990, an M.P.H. in quantitative methods, and a Dr.P.H. in epidemiology from the Harvard School of Public Health in 1993 and 1996, respectively. She joined the Hormonal and Reproductive Epidemiology Branch (HREB) in 1996 as a post-doctoral fellow and is now a Senior Investigator in this branch. She received an NIH Merit Award in 2001, an NCI Intramural Research Award in 2004, and the DCEG Women Scientist Advisory Award in 2007. Dr. Garcia-Closas sits on the Etiology and Early Marker Studies Review Panel for PLCO studies, the Steering Committee of the Molecular Epidemiology Group, the Estrogen Receptor Negative Breast Cancer Health Disparities Working Group at NCI, and the Editorial Board of Cancer Epidemiology, Biomarkers and Prevention. She is also a lead organizer of the International Consortium of Case-Control Studies of Bladder Cancer, which was formed to facilitate large-scale collaborations.

We are interested in the application of biomarkers in molecular epidemiologic studies of breast, ovarian, endometrial and bladder cancers, with special emphasis on the study of genetic susceptibility, and etiologic heterogeneity of breast cancer. We have also conducted a series of methodological investigations to address relevant scientific questions derived from molecular epidemiologic studies. Recently, my work has focused on three major areas: assessment of false positive findings, collection and use of buccal cell DNA, and creation of pilot studies for biomarker development.


David B. Goldstein, Ph.D.

David B. Goldstein, Ph.D.
Director, Center for Population Genomics and Pharmacogenetics,
Duke Institute for Genome Sciences and Policy,
Duke University Medical Center, Durham, NC


Stanford University, Ph.D., Biological Sciences

David Goldstein is Professor of Molecular Genetics and Microbiology and Director of the IGSP's Center for Population Genomics and Pharmacogenetics. Dr. Goldstein received his Ph.D. in Biological Sciences from Stanford University in 1994, and from 1999 to 2005 was Wolfson Professor of Genetics at University College London.

He is the author of over 70 scholarly publications in the areas of population and medical genetics. Dr. Goldstein's principal interests include human genetic diversity, the genetics of neurological disease, and pharmacogenetics. He is on the editorial boards of Current Biology, Annals of Human Genetics, Molecular Biology and Evolution, and Human Genomics. He is the recipient of one of the first seven nationally awarded Royal Society / Wolfson research merit awards in the UK for his work in human population genetics.


Barbara A. Koenig, Ph.D.

Barbara A. Koenig, Ph.D.
Co-Director of Bioethics Research, Mayo Clinic Rochester, MN


University of California, San Francisco and Berkeley, Ph.D., Medical Anthropology
University of Minnesota, B.S. Nursing,
University of Minnesota, B.A., Asian History

Barbara A. Koenig, Ph.D., an anthropologist who studies contemporary biomedicine, is Professor of Medicine at the Mayo Clinic College of Medicine and Faculty Associate at the Center for Bioethics, University of Minnesota. Previously, she served as Executive Director of Stanford University's Center for Biomedical Ethics, West Coast Research Coordinator for The Hastings Center, and was a member of the faculty at the University of California, San Francisco.

Dr. Koenig is one of a small number of anthropologists who works within the interdisciplinary field of bioethics. She has pioneered the use of empirical social science methods in interdisciplinary bioethics research. Her methodological expertise is in the design of research using multiple methods (qualitative and quantitative) and integrating empirical research findings with normative ethical analysis, thus informing the development of health policy and bioethics practices.

Her research focuses on two areas: end-of-life care and the ethical, social, and political implications of new biomedical technologies, particularly those within the genomic sciences. Her past projects in end-of-life care have investigated topics such as how medical residents construct seriously ill patients as "dying", and the social negotiation of "routine" biomedical therapies. Later research explored issues of multi-culturalism in healthcare through the lens of end-of-life decision making, examining how the dilemmas of western bioethics are experienced in urban, inner-city American clinics and hospitals.

Dr. Koenig is a co-investigator at the Mayo Clinic site of the eMERGE network for genomic research in biorepositories.


Joseph D. McInerney, M.S., M.A.

Joseph D. McInerney, M.S., M.A.
Executive Director, National Coalition for Health Professional
Education in Genetics, Lutherville, MD


SUNY Stony Brook, M.S.

Joseph D. McInerney, M.S., C.G.C., has been involved in genetics education for 30 years, developing educational programs for audiences ranging from K-16 students and teachers to health professionals. For the last six years, Joe has been director of NCHPEG, the National Coalition for Health Professional Education in Genetics. Prior to that, he spent 22 years at the Biological Sciences Curriculum Study, where he was director from 1985 to 1999. Most recently, Joe was principal investigator on NCHPEG projects to develop interactive CD-ROMs on psychiatric genetics and on genetics and common disorders, for free distribution to more than 10,000 health professionals. He now is principal investigator on a NCHPEG project that has produced a live, 90-minute television program on race, genetics, and health care for continuing medical education. Joe holds an M.S. in genetic counseling from SUNY Stony Brook. In 2005, Joe received the award for excellence in human genetics education from the American Society of Human Genetics and the Natalie Weissberger Paul Award for national achievement from the National Society of Genetic Counselors.


Howard McLeod, Pharm.D.

Howard McLeod, Pharm.D.
Fred N. Eshelman Distinguished Professor and Director,
School of Pharmacy and Institute for Pharmacogenomics and Individualized Therapy, The University of North Carolina at Chapel Hill, Chapel Hill, NC


Philadelphia College of Pharmacy and Science, Pharm.D.
University of Washington School of Pharmacy, B.S.

Dr. Howard McLeod is a Fred N. Eshelman Distinguished Professor and Director, UNC Institute for Pharmacogenomics and Individualized Therapy, University of North Carolina, Chapel Hill. Dr. McLeod holds appointments in the Schools of Pharmacy and Medicine and the Lineberger Cancer Center. Dr. McLeod is also the Principal Investigator for the CREATE Pharmacogenetics Research Network, a member of the NIH funded Pharmacogenetics Research Network and is a member of the FDA committee on Clinical Pharmacology. He also directs the Pharmacogenetics for Every Nation Initiative, which aims to help developing countries use genetic information to improve National Drug Formulary decisions. Howard has published over 290 peer reviewed papers on pharmacogenomics, applied therapeutics, or clinical pharmacology and continues to work to integrate genetics principles into clinical practice to advance individualized medicine.


Jeffrey C. Murray, M.D.

Jeffrey C. Murray, M.D.
Professor, Department of Pediatrics, Carver College of Medicine,
University of Iowa
Iowa City, IA


Tufts University, M.D.

Current projects include strategies to identify and characterize genes and environmental components in complex human disorders. We focus on conditions that affect infants and children including a common birth defect- cleft lip and palate, prematurity and two traits of young children- myopia and language development. Many of our studies are carried out using large population and epidemiologic studies of children with particularly from the Philippines, Japan, Denmark, Norway, Argentina and Brazil, and we work in close collaboration with investigators in these countries. Studies of cleft lip involve using epidemiologic databases coupled to large scale genetic evaluation (genotyping and DNA sequencing) to find how variation in normal genes affects exposure (such as smoking or poor nutrition) to induce fetal developmental abnormalities. For prematurity, a problem that affects 10% of all infants and leads to death and significant medical problems (mental retardation, blindness, deafness), we study cases and families to find genes and examine environmental triggers such as infection, stress and smoking. Our work involves collaborations with many other disciplines such as embryologists, biostatisticians and clinicians. Our lab has particular expertise in analyzing DNA from very large datasets and tying this into basic science and clinical care. In some cases we also carry out clinical trials targeted at prevention or improved treatment of these conditions. Graduate students play an active role in implementation of the studies and are often involved at many different levels of the collaboration from bench techniques to overseas coordination of sample collection.

Dr. Murray is a recent member of the National Advisory Council on Human Genome Research and has worked with NHGRI/OPG on the development of design considerations for a potential United States population-based cohort. He is also principal investigator of a GWA study of pre-term birth in the GENEVA Consortium.


Anne B. Newman, M.D., M.P.H.

Anne B. Newman, M.D., M.P.H.
Professor of Epidemiology and Medicine
University of Pittsburgh, Pittsburgh, PA


University of Pittsburgh, M.P.H., Public Health
University of Pittsburgh, M.D., Medicine
University of Pittsburgh, B.S. Biology

Anne Newman is Professor of Epidemiology and Medicine with a joint appointment in the Division of Geriatric Medicine. Funded extensively by NIH grants and contracts, her research focuses on the epidemiology and implications of subclinical diseases in older adults. She is particularly concerned with the impact of apparently subclinical disease on physical, cognitive, and muscle (sarcopenia) function, as well as its contribution to frailty, a concept that she has helped to define. In addition to documenting the widespread effects of subclinical disease, Dr. Newman has helped to pioneer the application of clinical tools to the evaluation of entire populations. She also has facilitated and led collaborations with investigators in other divisions of medicine (such as cardiology, endocrinology, pulmonary medicine, rheumatology, renal-electrolyte), and departments (including neurology, physical therapy, occupational therapy, dental medicine) into the mechanisms mediating the declines that she documents. Dr. Newman is principal investigator of the CDC Prevention Research Center in the Department of Epidemiology and was recently appointed as Director of the Center on Aging and Population Health. She also is principal investigator of a new family study of exceptional survival and of a follow-up grant to study healthy aging outcomes in the Cardiovascular Health Study. She has been recognized for her work by election to membership in the American Epidemiology Society.

Dr. Newman worked with NHGRI/OPG as a member of the Technical Advisory Group for the Genetic Association Information Network.


Robert L. Nussbaum, M.D.

Robert L. Nussbaum, M.D.
Chief, Division of Medical Genetics, Department of Medicine
University of California, San Francisco,
San Francisco, CA


Harvard Medical School, M.D.
Harvard College, A.B.

Dr. Nussbaum's laboratory studies genetic contributions developmental and neurodegenerative disorders. His two major areas of concentration are Lowe syndrome and Parkinson disease. Lowe syndrome, formally known as Lowe oculocerebrorenal syndrome (OCRL), is a rare X-chromosome-linked disorder that can cause mental retardation, seizures, cataracts, and kidney disease in young children. Most Lowe syndrome patients die in their teens or twenties. Parkinson disease is a slowly progressive disease of the nervous system, which strikes an estimated 50,000 mostly older Americans each year. It is second only to Alzheimer's disease among the most common neurodegenerative diseases in the developed world.

Dr. Nussbaum joined NHGRI in 1993 and was chief of the Genetic Disease Research Branch of NHGRI until 2006.


James M. Ostell, Ph.D. James M. Ostell, Ph.D.
Chief, Information Engineering Branch
National Center for Biotechnology Information,
National Library of Medicine,
National Institutes of Health,
Bethesda, MD


Harvard University, Ph.D., Cellular and Developmental Biology
University of Massachusetts, M.S., Zoology

Dr. Ostell received a Master's degree in Zoology from the University of Massachusetts and a Ph.D. in Cellular and Developmental Biology from Harvard University. He was the author of the popular sequence analysis package, MacVector. At the founding of National Center for Biotechnology Information (NCBI) in 1988, Dr. Ostell became the Chief of the Information Engineering Branch, and is responsible for designing, developing, deploying and maintaining all the public resources at NCBI. This includes PubMed, GenBank, BLAST, Entrez, OMIM, PubMed Central, NCBI BookShelf, GEO, dbEST, dbSNP, UniGene, LocusLink, RefSeq, and others. NCBI assembles the human genome sequence used as the standard framework for human gene models by every major site in the world and produces the set of curated Human (and other organism) RefSeq mRNAs is the standard reagent for finding and labeling characterized human genes. The RefSeq manual and automated annotation pipelines also include bacteria and viruses. The annotation of the Vancouver SARS coronavirus to the level of mature peptides was provided to the Vancouver group by NCBI in less than a day. PubMed is the largest biomedical bibliographic resource in the world, incorporating publications electronically from thousands of journals. NCBI is the most heavily used biomedical information resource in the world, interactively serving almost 400,000 unique users a day at rates of more than 700 web hits a second, and providing almost a terabyte of data a day by ftp.

Dr. Ostell has worked closely with NHGRI/OPG on the development of the data receipt and distribution aspects of the Genetic Information Association Network, the 2006 and 2007 Multi-IC Symposia on Application of Genomic Technologies to Population Studies, and the 2007 GEI-SER symposium on Genome-Wide Association Studies.


Thomas A. Pearson, M.D., Ph.D., M.P.H.

Thomas A. Pearson, M.D., Ph.D., M.P.H.
Professor of Community and Preventive Medicine,
Department of Community and Preventive Medicine,
Visiting Scientist
National Human Genome Research Institute
School of Medicine, University of Rochester, Rochester, NY


Johns Hopkins University, M.D., Ph.D., Epidemiology

Dr. Pearson received his M.D., Ph.D. in Epidemiology and Masters in Public Health from Johns Hopkins University. He is the Principal Investigator for the Rochester Clinical Research Curriculum, supported by a K30 grant from the National Institutes of Health. He is also Program Director for an Institutional Research Training Grant for the National Heart, Lung, and Blood Institute, entitled "Research Training in Preventive Cardiology." He is also Principal Investigator on a Nutrition Academic Award from NHLBI to design a medical school curriculum in nutrition.

Dr. Pearson has several areas of research interests, all in the field of Preventive Cardiology. He has been interested in developing guidelines in Preventive Cardiology and examining the extent to which they are implemented as well as identifying barriers to their implementation. He has been a writer of The American Heart Association guidelines for the primary and secondary prevention of heart disease and stroke. He has been the Principal Investigator for the L-TAP and ACCEPT studies, examining the extent to which guidelines are carried out.

Dr. Pearson has also carried out clinical trials of dietary and drug interventions in lipid disorders. His particular interests have been in HDL metabolism and the role of lipoprotein (a) in atherogenesis. He has lectured and published extensively on the prevention of cardiovascular disease, including research at the patient, healthcare system, community, and public policy levels.

Dr. Pearson is currently on a nine-month sabbatical with NHGRI/OPG, where he is working on identification and management of biases in genome-wide association studies and on development of a course in genomics for epidemiologists to bring back to the University of Rochester.


Malcolm C. Pike, Ph.D.

Malcolm C. Pike, Ph.D.
Professor, Preventive Medicine,
Norris Cancer Center
University of Southern California
Los Angeles, CA


Aberdeen University, United Kingdom, Ph.D.

Dr. Pike's research interests are concentrated on the cause and prevention of female cancers. Current major research efforts include: (1) development of a hormonal contraceptive designed to significantly reduce breast cancer in young women; (2) studies of the effects of diet on risk of female cancers in a large multi-ethnic cohort ( African-Americans, Japanese-Americans, Latinas, Native-Hawaiians, Whites); (3) studies of the genetics of hormonal factors of importance in the cause of female cancers in the multi-ethnic cohort and in case-control studies; and (4) studies designed to find improved forms of menopausal hormone replacement therapy.


Charles Rotimi, Ph.D., M.P.H.

Charles Rotimi, Ph.D., M.P.H.
Professor, College of Medicine,
Director, National Human Genome Center,
Howard University, Washington, DC


University of Alabama at Birmingham, MPH
University of Alabama at Birmingham, Ph.D.

Dr. Charles Rotimi is a biochemist and a genetic epidemiologist in the College of Medicine, Howard University in Washington, DC. He received his PhD and MPH FROM the University of Alabama in Birmingham. Dr. Rotimi is a Professor in the College of Medicine and the director of the National Human Genome Center at Howard University. His research focuses on understanding the patterns and determinants of common complex diseases including diabetes, hypertension, and obesity in populations of the African Diaspora. Dr. Rotimi uses genetic epidemiology models to test whether high rates of diseases like diabetes, hypertension, and obesity among African Americans are the result of exposure to higher levels of environmental risk factors, increased genetic susceptibility, or an interaction between adverse environments and deleterious genes. He is the president of the African Society of Human Genetics (http://afshg.org).

Dr. Rotimi worked with NHGRI/OPG on the NCI-NHGRI Replication Workshop and will be joining NHGRI's Inherited Disease Research Branch in the near future.


David A. Schwartz, M.D.

David A. Schwartz, M.D.
Senior Advisor for Environmental Health Sciences,
National Institute of Environmental Health Sciences,
National Institutes of Health
Research Triangle Park, NC


University of California, San Diego School of Medicine, M.D.
University of Rochester, B.A., Biology

David A. Schwartz, MD, is the current Senior Advisor to NIH on Environmental Health Science. Schwartz is a nationally recognized researcher and practicing physician specializing in environmental lung disease. He came to the NIEHS after five years at Duke University, where he was director of the Pulmonary, Allergy, and Critical Care Division and Vice Chair of Research in the Department of Medicine. At Duke, he played a principal role in developing three interdisciplinary centers in environmental health sciences, environmental genomics, and environmental asthma.

Dr. Schwartz's research focuses on the genetic and biological determinants of environmental lung disease and host defense. These efforts have provided new insights into the pathophysiology and biology of asbestos-induced lung disease, interstitial lung disease, environmental airway disease, and innate immunity. His research has identified the endotoxin lipopolysaccharide (LPS) as an important cause of airway disease among those exposed to organic dusts, and that a specific mutation in the Toll-4 gene is associated with a diminished airway response to inhaled LPS in humans. Recent work focuses on genes that regulate the innate immune response in humans, genes involved in the fibroproliferative response in the lung, and the genetic regulation of environmental asthma. Dr. Schwartz has authored more than 150 research papers, 38 book chapters, and a textbook. He has served on numerous National Institutes of Health study sections, is a member of the American Society for Clinical Investigation and the Association of the American Physicians, and received the American Thoracic Society Scientific Achievement Award in 2003.

Dr. Schwartz worked closely with NHGRI/OPG in the development and implementation of the Genes, Environment, and Health Initiative (GEI).


Michael Snyder, Ph.D.

Michael Snyder, Ph.D.
Lewis B. Cullman Professor of Molecular, Cellular and Developmental Biology
Yale University, New Haven, CT


California Institute of Technology, Ph.D.,

Michael Snyder is the Lewis B. Cullman Professor of Molecular and Cellular Biology and Professor of Molecular Biophysics and Biochemistry at Yale University; he is also the Director of the Yale Center of Genomics and Proteomics. Dr. Snyder received his Ph.D. training in the laboratory of Dr. Norman Davidson at the California Institute of Technology and carried out postdoctoral training in Dr. Ronald Davis's laboratory at Stanford University. He is a leader in the field of functional genomics and proteomics. His laboratory study was the first to perform a large-scale functional genomics project in any organism, and currently carries out a variety of projects in the areas of genomics and proteomics both in yeast and humans. These include the large-scale analysis of proteins using protein microarrays and the global mapping of the binding sites of chromosomal proteins. His laboratory built the first proteome chip for any organism and the first high resolution tiling array for the entire human genome. Dr. Snyder has published over 200 manuscripts and is editor of a number of journals including Functional and Integrative Genomics, Molecular and Cellular Proteomics, Drug Discovery Today, PloS Genetics and Genes and Development. He sits on many international advisory boards and was a cofounder of Protometrix, Inc., a protein microarray company that was purchased by Invitrogen in 2004.

Dr. Snyder is principal investigator of the Yale site of the ENCODE consortium.


Ellen M. Wijsman, Ph.D.

Ellen M. Wijsman, Ph.D.
Professor, Division of Medical Genetics,
Department of Medicine and Biostatistics
University of Washington, Seattle, WA


University of Wisconsin at Madison, Ph.D., Population Genetics
Michigan State University, B.S., Biology

Ellen M. Wijsman, Professor, received a B.S. in Biology (1975), from Michigan State University, and Ph.D. in Population Genetics (1981), from the Genetics Department at the University of Wisconsin, Madison. She was a postdoctoral fellow in the Department of Genetics, Stanford University from 1981-1984, and a research associate from 1984-1987. In 1987 she joined the faculty at the University of Washington in the Division of Medical Genetics, Department of Medicine, and was promoted to Associate and full Professor in 1992, and 1997, respectively. Since 1993 she has held a joint appointment in the Department of Biostatistics, and the Division of Medical Genetics, Department of Medicine. She is also an adjunct faculty in the Department of Genome Sciences.

She currently serves on the National Institute of Aging Board of Scientific Counselors, on the Emerging Genetic Studies advisory panel of the Jackson Heart Study, on the NHLBI Large-Scale genotyping cohorts oversights committee, on the Observational Study Monitoring Board for the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions, and on the editorials boards of Genetic Epidemiology and The American Journal of Human Genetics. She was president of the International Genetic Epidemiology Society in 2005, and also in 2005 completed terms on the NHLBI Mammalian Genotyping Service review panel, the Center for Inherited Disease (CIDR) Access Committee, and the NHLBI observational safety and monitoring board of the Family Blood Pressure Program.

Dr. Wijsman worked with NHGRI/OPG on the NCI-NHGRI Replication Workshop and on a recent ASHG educational session on design of genetic association studies.

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Last Reviewed: November 3, 2010