NHGRI Funds Next Step in Understanding
Biological Roots of Common Diseases
The National Human Genome Research Institute, one of the National
Institutes of Health, today announced grants expected to total
about $31 million over the next four years for research aimed at
gaining a better understanding of how specific genetic variants
act to influence the risk of diabetes, heart disease, cancer and
other common diseases.
Over the past two years, genome-wide association studies (GWAS)
have allowed researchers to uncover more than 300 novel genetic
variants associated with common diseases. However, the discovery
of genetic variants through GWAS research represents just the first
step in the challenging process of piecing together the complex
biological picture of common diseases. To help speed the process,
NHGRI is supporting new research in existing large epidemiology
studies, all with a rich range of measures of health and potential
disease, and many with long-term follow-up.
The focus of the new research is on how genetic variants initially
identified through GWAS research are related to a person's biological
and physical characteristics, such as weight, cholesterol levels,
blood sugar levels or bone density. Scientists will also examine
how non-genetic factors, such as diet, medications and smoking,
may interact with genetic factors or each other to influence health
"By drawing on the combined strengths of genomics and epidemiology,
this innovative program will create a much-needed research resource.
The data it generates will save researchers around the world considerable
time and energy, accelerating our ongoing efforts to translate
genetic findings into new strategies for improving human health," said
NHGRI Director Francis S. Collins, M.D., Ph.D.
The information generated by this program will help guide other
genomic and epidemiologic studies by defining the potentially wide-ranging
effects of genetic differences among people. Additionally, it will
lay the groundwork for laboratory experiments in cultured cells
and other model systems to identify the precise biological mechanism
affected by each genetic variant and how it interacts with other
biological and environmental factors. Such information is vital
to developing more individualized ways of preventing, diagnosing
and treating common diseases.
"These investigators and cohorts were each chosen for their potential
to provide important clues about how specific genetic variants
might contribute to diseases like diabetes or cancer, which are
a burden to public health," said Teri Manolio, M.D., Ph.D., director
of the NHGRI Office of Population Genomics. "The investigators
will collaborate to establish criteria and prioritize specific
variants to test within their populations. Our plan is to investigate
about 100 genetic variants in 10,000 participants each year for
Below is a list of the NHGRI grantees, along with their estimated
funding levels over four years, and the cohorts involved.
Dana Crawford, Ph.D., Vanderbilt University, Nashville,
National Health and Nutrition Examination Survey (NHANES)
Gerardo Heiss, M.D., Ph.D., University of North Carolina,
CALiCo Consortium: Atherosclerosis Risk In Communities (ARIC),
Coronary Artery Risk In Young Adults (CARDIA), Cardiovascular Heart
Study (CHS), Hispanic Community Health Study, the Strong Heart
Cohort Study, the Strong Heart Family Study
Loïc Le Marchand, M.D., Ph.D., University of
Hawaii Cancer Research Center, Honolulu
Charles L. Kooperberg, Ph.D., Fred Hutchinson Cancer
Research Center, Seattle
Women's Health Initiative
A coordinating center will also be established to facilitate data
access and analysis tools for the research community. The principal
investigator of the coordinating center is Tara Matise, Ph.D.,
University of Rutgers Busch campus, Piscataway, N.J. The center
will receive approximately $3.1 million over four years. The coordinating
center is being co-funded by the National Institute of Mental Health,
which will contribute approximately $1.2 million over four years.
The participants in many of the cohorts have been followed closely
for years and information about each patient has been rigorously
collected and validated by medical experts. This includes information
such as medical histories, health exams, biomarkers from blood
tests, blood pressure, medications, behaviors/lifestyles and nutrition.
In addition, each cohort has recruited a diverse range of U.S.
populations, including Caucasians, African-Americans, Hispanics,
American Indians, and Asian and Pacific Islanders.
Group-level data generated from each study will be deposited in
dbGaP, the public database of Genotypes and Phenotypes (http://view.ncbi.nlm.nih.gov/dbgap)
operated by the National Library of Medicine's National Center
for Biotechnology Information.
For more information about genome-wide association studies, go
For information about research programs in the NHGRI Office of
Population Genomics, go to http://www.genome.gov/19518660.
NHGRI is one of 27 institutes and centers at the NIH, an agency
of the Department of Health and Human Services. The NHGRI Division
of Extramural Research supports grants for research and for training
and career development at sites nationwide. Additional information
about NHGRI can be found at its Web site, www.genome.gov.
The National Institute of Mental Health (NIMH) mission is to reduce
the burden of mental and behavioral disorders through research
on mind, brain, and behavior. More information is available at
the NIMH Web site, http://www.nimh.nih.gov.
The National Institutes of Health (NIH) — The Nation's
Medical Research Agency — includes 27 Institutes and
Centers and is a component of the U.S. Department of Health and
Human Services. It is the primary federal agency for conducting
and supporting basic, clinical and translational medical research,
and it investigates the causes, treatments, and cures for both
common and rare diseases. For more information about NIH and
its programs, visit www.nih.gov.