Kári Stefánsson,
M.D., Dr.Med.
Chairman and Secretary, DECODE GENETICS
TITLE: GENETICS OF COMMON/COMPLEX DISEASE
Kári Stefánsson, M.D., Dr. Med. has served as President,
Chief Executive Officer and a Director since he co-founded deCODE
in August 1996. Dr. Stefansson was appointed to serve as the Chairman
of our Board of Directors in December 1999.
From 1993 until April 1997, Dr. Stefansson was
a professor of Neurology, Neuropathology and Neuroscience at Harvard
University. In addition, from 1993 through December 1996 he was Director
of Neuropathology at Beth Israel Hospital in Boston, Massachusetts.
From 1983 to 1993, he held faculty positions in Neurology, Neuropathology
and Neurosciences at the University of Chicago. Dr. Stefansson received
his M.D. and Dr. Med. from the University of Iceland.
P. Michael Conneally,
Ph.D.
Distinguished Professor School of Medicine
Department of Medical Genetics & Department of Neurology
Indiana University, Indianapolis, IN
TITLE: APPROACHES TO MAPPING COMPLEX DISORDERS
In the past two decades Dr. Conneally he has been instrumental in
mapping approximately 20 human genes. In 1980, Conneally began collaboration
with Dr. James Gusella of Harvard in a search for the Huntington
disease gene using recombinant DNA markers. In 1983 the gene was
located on chromosome 4. The 1984 International Congress of Human
Genetics added this discovery to its list of the 40 most important
advances in human genetics.
This same team also searched for a gene causing
familial Alzheimer disease. In 1987, an announcement was made in
Science that a gene was found on chromosome 21. Later in 1987, in
collaboration with investigators at Duke University, Professor Conneally
identified a second gene for familial Alzheimer disease.
Professor Conneally received his B.S. from
the University College in Dublin, Ireland and his M.S. and Ph.D.
from the University of Wisconsin.
Lindsay
A. Farrer, Ph.D.
Chief, Genetics Program
Professor, Depts. of Medicine, Neurology, and Genetics and Genomics,
Boston University School of Medicine and Depts. of Epidemiology
and Biostatistics, Boston University School of Public Health
TITLE: GENETICS OF THE VASCULAR PATHWAY TO ALZHEIMER DISEASE
In collaboration with other laboratories worldwide, Dr. Farrer has
localized genes causing a variety of rare and common disorders including
Alzheimer disease (AD), Wilson disease, Machado-Joseph disease,
Waardenburg syndrome, hypertension, sensorineural deafness, and
osteoarthritis. Dr. Farrer’s team is developing genetic mapping
methods for locating genetic modifiers for disorders whose primary
defects are already known, but account for only a small portion
of the phenotypic variation. Such modifier genes will probably be
more amenable than the primary structural genes to strategies for
delaying or modulating expression. Under
Dr. Farrer’s leadership, the MIRAGE Project, a multi center
study of AD funded since 1991 by the National Institute on Aging,
has made several important contributions to our understanding of
the interactions between genetic and environmental factors for the
disorder. This study has a particular emphasis on the genetics of
AD in African Americans. Dr. Farrer and his colleagues in the Genetics
Program have an integral role developing new multi disciplinary
research programs. They are working with other BUSM researchers
on the Hypertension SCOR Program which is dedicated to identifying
genes for hypertension and blood pressure regulation disorders;
on the Atherosclerosis SCOR Program, part of which is focused on
genetic modulators of endothelial dysfunction; the genetics of severe
asthma; on projects aimed at identifying genes influencing severity
and expression of sickle cell anemia; and with the New England Centenarian
Study on the genetic basis of exceptional longevity. In collaboration
with researchers at several other institutions, Dr. Farrer is conducting
a genome scan to search for genes conveying susceptibility to cocaine
and opioid dependence. His laboratory is also coordinating an extremely
large international study to identify genes for metabolic syndrome,
a common disorder characterized by atherosclerosis, insulin resistance,
hypertension and central obesity.
Dr. Farrer is a graduate of the University of North Carolina in
Chapel Hill, received his Ph.D. from the Indiana University School
of Medicine and gained additional training in genetic epidemiology
at Yale University.
Thomas
B. Friedman, Ph.D.
Chief, Laboratory of Molecular Genetics
National Institute on Deafness and Other Communication Disorders
National Institutes of Health
TITLE: A GENETIC DISSECTION OF HEARING LOSS AND HAIR CELLS
The goal of the Dr. Friedman’s Laboratory of Molecular Genetics
is to identify, clone and characterize the genes that contribute
to communication disorders. The Laboratory of Molecular Genetics
has three sections, the Section on Human Genetics, the Section on
Gene Structure and Function, and the Section on Systems Biology
of Communication Disorders. The Section on Human Genetics is studying
the genes responsible for hereditary hearing impairment and hearing
loss coupled with blindness. Improved understanding of the mutated
genes will provide important information on hearing and brain processing.
The identification of the relevant genes will also permit early
and more accurate diagnosis for certain forms of hereditary hearing
and communication impairments as well as loss of sight.
Dr. Friedman received a B.S. and his Ph.D.
from the University of Michigan where he worked with Tahir Mohammed
Rizki on the molecular genetics of purine metabolism in Drosophila.
After postdoctoral work at the NIMH, he became a faculty member
in the Department of Zoology and the Department of Pediatrics and
Human Development at Michigan State University.
Todd
R. Golub, M.D.
Charles A. Dana Investigator in Human Genetics
Associate Professor Pediatrics at Harvard Medical School
TITLE: GENOMIC INFORMATION AND CANCER
Dr. Golub’s work focuses on using the human genome to understand
the biological and clinical challenges facing cancer medicine. Dr.
Golub joined the Dana-Farber Cancer Institute Faculty in 1996 and,
a year later, also joined the Whitehead Institute/MIT Center for
Genome Research, where he serves as Director of Cancer Genomics.
He is recipient of several awards, including the Daland Prize of
the American Philosophical Society, Discover Magazine's Inventor
of the Year (Health Category), and the Cornelius P. Rhoads Award
of the American Association for Cancer Research. In recognition
of his work in cancer genomics, he was one of 12 physician-scientists
appointed in 2002 as associate investigators of the Howard Hughes
Medical Institute.
Jose M. Ordovas, Ph.D.
Professor, Nutrition and Genetics
Director, Nutrition and Genomics
JM-USDA-HNRCA at Tufts University, Boston, MA
TITLE: GENE ENVIRONMENT INTERACTIONS MODULATING CARDIOVASCULAR RISKS
Jose M. Ordovas, PhD is Professor of Nutrition
and a Senior Scientist (USDA-HNRC) at Tufts University in Boston,
Massachusetts where he also is a Director of the Nutrition and Genomics
Laboratory, HNRCA.
Dr Ordovas was educated in Spain at the University
of Zaragoza where he completed his undergraduate work in chemistry,
his graduate work in biochemistry, and received his doctorate in
biochemistry. While earning his doctorate, Dr Ordovas served as
a teaching assistant at the University’s Department of Biochemistry
and Nutrition. He then joined Massachusetts Institute of Technology
in Boston, Massachusetts as a Research Associate, Department of
Nutrition and Food Science. He continued as a Research Associate
with Harvard Medical School, Department of Cardiology, Children’s
Hospital and then at Tufts University, Lipid Metabolism Laboratory,
USDA Human Nutrition Research Center on Aging where he was also
named Dana Research Fellow. While at Tufts’ Lipid Metabolism
Laboratory, Dr Ordovas assumed a scientist III position which then
led way to his nutrition professorships and role as Head, Molecular
Biology Section, Lipid Metabolism. At the present time, he is the
Director of the Nutrition and Genomics Laboratory, at the USDA Human
Nutrition Research Center on Aging at Tufts University.
Dr. Ordovas’ major research interests focus
on the genetic factors predisposing to cardiovascular disease and
their interaction with the environment and behavioral factors with
special emphasis on diet. He has participated in the Framingham
Heart Study for nearly 20 years and is carrying out multiple cross-cultural
studies to determine cardiovascular risk in different populations
around the world, with special interest in the Asian Pacific and
the Mediterranean regions.
Dr Ordovas has published over 350 scientific articles
in peer review journals, including The Lancet, the New England Journal
of Medicine, Science, JAMA, Circulation, Arteriosclerosis Thrombosis
and Vascular Biology, Journal of Biological Chemistry and Proceedings
of the National Society of Sciences (USA) and the American Journal
of Clinical Nutrition. Moreover, Dr. Ordovas has written numerous
reviews and 4 books on topics surrounding diet and coronary heart
disease, diet and genetics, and the pathophysiology of arteriosclerosis.
During the past five years, Dr Ordovas has participated
as invited speaker for over 200 International Congresses, courses,
and symposiums in Europe, Asia, Central and South America and the
USA. These lectures have focused primarily on dietary prevention
and treatment of cardiovascular disease, Mediterranean diet, the
cultural transition in the Asian Pacific region and the interaction
between genetics and the environment as a determinant of individual
health risk, and the genetics of cardiovascular disease.
Dr Ordovas serves on several editorial boards,
is a frequent reviewer of many leading journals, and is active with
several peer review committees, including the NHLBI Program Projects
Parent Committee, and professional memberships. Throughout his career,
Dr Ordovas has contributed his expertise to various global organizations
and has received many honors for his scientific achievements. As
such, Dr Ordovas was asked to serve as Nutrition Expert for the
American Soybean Association, consulting for Mexico and Central
America, was named Expert Consultant to the Singapore Ministry of
Health, and is the recipient of the Francisco Grande Memorial Lecture
for Excellence in Nutrition. His contributions to the atherosclerosis,
nutrition and genetic research in Spain have resulted in the recent
praise as Member of Honor of the Spanish Society of Atherosclerosis.
He serves on the scientific advisory boards of biotechnology and
as advisor of large food and personal care companies
In addition to his career achievements, Dr
Ordovas actively supports young physicians. He directed an international
scientific course entitled, “The Impact of Lipids on Cardiovascular
Disease” (Spanish Society of Atherosclerosis/American Heart
Association), held 12 times per year. For the past 10 years, Dr
Ordovas has also hosted 10 Ph.D. students and over 40 foreign visiting
scientists and graduate students, overseeing their research on diet,
lipoprotein metabolism and genetics.
Jerome I. Rotter, M.D., F.A.C.P., F.A.C.M.G.
Director of Research, Medical Genetics Institute,
Cedars-Sinai Medical Center
Director, Division of Medical Genetics, Department of Medicine
Cedars-Sinai Board of Governors Endowed Chair in Medical Genetics
Professor of Medicine, Pediatrics, and Human Genetics, UCLA
TITLE: MAPPING GENES IN THE INTERFACE BETWEEN DIABETES AND ATHEROSCLEROSIS
The goal of Dr. Rotter's research is to delineate
the genetic susceptibility to specific common diseases, as a basis
for an improved understanding of their etiologies and as a means
for developing methods of identifying high-risk individuals for
disease prevention. His current research efforts are focused on
large scale family epidemiologic, physiologic, and linkage studies
of metabolic/cardiovascular and gastrointestinal/autoimmune diseases,
more specifically, atherosclerosis, insulin resistance, hypertension,
lipid disorders, both insulin and non-insulin dependent diabetes,
and inflammatory bowel disease. In this context, he also conducts
theoretical work on genetic epidemiologic approaches, genetic analytic
methodologies, and development of clinical application programs.
These also include pharmacogenetic studies, that is defining the
genetic determinants of therapeutic responses to pharmacologic agents.
Dr. Rotter received his bachelor's and medical
degrees from University of California, Los Angeles (UCLA). He completed
his internship in medicine at Harbor-UCLA Medical Center, followed
by a residency in internal medicine at Wadsworth VA Hospital in
Los Angeles and a fellowship in medical genetics at Harbor-UCLA
Medical Center, followed by a faculty position in Medical Genetics
at Harbor-UCLA. He moved to Cedars-Sinai in 1986, to establish a
newly created Medical Genetics Birth Defects Center and to create
a Common Disease Genetics Program. Along with Drs. Richard King
and Arno Motulsky, he is editor for the textbook of the discipline,
the Genetic Basis of Common Diseases (Oxford, 2002, 2nd edition).
He is now Director of Research at the newly created Medical Genetics
Institute at Cedars-Sinai.
Edwin
K. Silverman, M.D., Ph.D.
Assistant Professor of Medicine, Havard Medical School
Associate Physician, Brigham and Women's Hospital
TITLE: GENETIC EPIDEMIOLOGY OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE
Dr. Silverman’s research current research involves the genetic
epidemiology of obstructive lung diseases including chronic obstructive
pulmonary disease (COPD) and asthma. He has assembled a group of
early-onset COPD families. Compared to control subjects, we have
found an increased risk for reduced FEV1 and chronic bronchitis
among first-degree relatives of early-onset COPD probands. He is
currently performing genotyping with microsatellite markers adjacent
to potential candidate loci and linkage analysis with these markers
in our early-onset COPD pedigrees. In addition to studying the genetics
of early-onset COPD, I am involved in several genetic studies of
asthma
Dr. Silverman did his graduate work at Washington
University where he studied the variable development of pulmonary
function impairment in alpha 1-antitrypsin deficiency using epidemiologic
techniques, path analysis, segregation analysis, and genotype-by-environment
interaction analysis.
Pamela
Sklar, M.D., Ph.D.
Associate Director, Psychiatric and Neurodevelopmental Genetics
Unit
Massachusetts General Hospital
Director, Neuropsychiatric Gentics, Whitehead Institute MIT/Center
for Genome Research
TITLE: GENOMICS, CONSOMICS AND SCHIZOPHRENIA
Dr. Sklar completed clinical training in Psychiatry
at Columbia Presbyterian Hospital and the New York State Psychiatric
Institute in Manhattan and research training in the laboratories
of Solomon Snyder (Johns Hopkins Medical School) and Richard Axel
(Columbia University). Dr. Sklar has been collaborating with Eric
Lander at the Whitehead Institute MIT/Center for Genome Research
on psychiatric genetics projects for the last 6 years. Currently,
Dr Sklar is a member of the Psychiatric and Neurodevelopmental Genetics
Unit at MGH, and the Director of Neuropsychiatric Genetics at the
Whitehead Institute MIT/Center for Genome Research.
Dr. Sklar, a neuroscientist, human geneticist and
clinical psychiatrist, is an investigator in search for the genetic
causes of psychiatric disorders, including schizophrenia, bipolar
disorder and ADHD. A major focus of her lab is to develop tools
for understanding and characterizing human sequence variation and
its associated haplotype structure and to apply them to neuropsychiatric
diseases. Currently, we select candidate genes for study based on
evidence obtained from linkage analysis, expression arrays and biological
data. Her work in bipolar disorder focuses on the identification
of risk alleles through association analysis and large scale linkage
disequilibrium mapping. Dr. Sklar has recently identified an association
between the gene brain-derived neurotrophic factor and risk of bipolar
disorder. She is also part of a large consortium of researchers
across the country collecting patient samples in collaboration with
the STEP-BD program for the largest ever association study in bipolar
disorder. The power of genetically homogeneous populations is being
used in an positional cloning and linkage disequilibrium mapping
strategy in a sample of patients with Portuguese patients with schizophrenia
from the Azores and Madeira. In collaboration with Steve Faraone
and clinical researchers in the Pediatric Psychopharmacology Research
at MGH a number of studies investigating candidate genes and ADHD
are underway.
Dr. Sklar's current research efforts focus
on Schizophrenia, Bipolar disorder, and ADHD.
