Summary of Research Activities by Key Approach and Resource
Epidemiological and Longitudinal Studies
In the midst of a devastating cholera outbreak in 1854, John Snow systematically
mapped the distribution of deaths in the Soho neighborhood of London and pinpointed
water from the now-famous Broad Street pump as the source of the disease. In addition
to helping curb future outbreaks by advancing the notion that cholera is transmitted
through contaminated water, Snows efforts helped lay the foundation for modern
epidemiological studies, which collect data and test hypotheses relative to a vast
range of factors that affect diseases—from genetic variability to socioeconomic
status—with the ultimate goal of improving public health.
Epidemiological studies examine the causes of health and disease in human populations
using a broad range of approaches. Persons or groups can be followed over time in
longitudinal studies, or a snapshot of information can be collected at a single
point in time. Studies can be done retrospectively, examining outcomes that have
already occurred and factors that may have contributed to health or disease, or
they can be done prospectively by beginning to monitor a population of interest
before a particular disease-related outcome occurs. Some epidemiological studies,
such as randomized controlled clinical trials, are experiments that actively test
an intervention; others, however, are observational in nature, collecting information
about and comparing groups—called cohorts—made up of individuals who share a
characteristic of interest (e.g., tobacco use, age, educational status).
The varied approaches to epidemiological research can be employed to answer a broad range
of questions, such as:
- What genetic and environmental factors interact to cause cancer?
- What environmental or behavioral factors have led to increased rates of obesity?
- How well does vaccination protect elderly people from influenza?
- Do patterns of adolescent drug use vary by geographic region?
In order to address these questions, epidemiological research draws on expertise from a
number of disciplines, including, but not limited to, epidemiology, social and behavioral
sciences such as economics and demography, genetics, and public health. Although some
epidemiological studies may be adequately addressed within a single discipline,
collaboration among scientists with a variety of expertise is necessary to unravel
the multifarious factors that contribute to a complex disease such as cancer or diabetes.
Epidemiological research—particularly the large prospective studies with longitudinal followup
that are usually the most robust and informative—is time-consuming and expensive, but NIH
investment in this type of research over the past half-century continues to yield invaluable
results. For example, two generations of offspring born to the original subjects in the
Framingham Heart Study
which was initiated in 1948 and identified high blood pressure, smoking, and other now well-known
risk factors for cardiovascular disease, are now being followed to identify hereditary factors
that contribute to cardiovascular disease. Moreover, repositories of data and biospecimens
collected years ago in long-running epidemiological and longitudinal studies are allowing
researchers to answer the research questions of today. For example, the NIH
Genes, Environment, and Health Initiative
is using DNA samples collected from persons who participated in past studies to systematically
identify disease-related genes and gene variants. The combination of genetic and longitudinal
data should help elucidate the complex gene-environment interactions that contribute to disease.
NIH is leveraging its past investments as well as its position as one of the foremost research
hubs in the world to spur the next generation of truly big science. Although technological
advances are contributing to this effort, its success is even more deeply rooted in the growing
number of scientists working together in a truly interdisciplinary fashion. Such a collaborative
approach permits the integration of diverse data from a variety of sources to improve understanding
of (a) the factors that converge to cause disease and (b) the interventions that may reduce disease risk.
Equally important, this culture of cooperation is characterized by a willingness to make results
publicly available in a timely manner for the benefit of the entire research enterprise.
Beyond interdisciplinary collaboration, however, NIH also recognizes the great potential of a
systems approach that integrates genetics, biology, and the social sciences, as well as multilevel
studies that illuminate the mechanisms linking features of societies and communities to individual
behaviors and health outcomes, often on a global level. This approach often requires an understanding
of economic trends and their relationships to both acute and chronic diseases, and it demands
explicit consideration of the environment in which health and disease are being studied. It
recognizes that factors such as public health policy and neighborhood design may be just as
important as genetic variation and individual behavior, and that addressing any of these factors
in isolation will result in an inadequate understanding of health and disease. One example
of a systems approach to studying disease is the
International Epidemiologic Databases to Evaluate AIDS (IeDEA) consortium
which is working to harmonize HIV/AIDS data from a number of sources worldwide to gain a better
understanding of HIV/AIDS pathogenesis as well as the efficacy of treatment and prevention
strategies within different settings and populations.
Building on its past investment, NIH currently supports numerous epidemiological and longitudinal
studies to increase understanding of diseases ranging from cancer to Alzheimers disease to influenza.
Through interdisciplinary efforts and integration of data from a variety of disciplines, NIH is helping
to usher in an era of personalized medicine in which the genetic, biological, and behavioral risk factors
of an individual are considered within the context of the sociocultural and physical environment. The
following section provides an overview of NIH-supported epidemiological and longitudinal studies,
followed by notable examples of NIH work in this field across different disease areas. Detailed
information on clinical trials, one type of experimental epidemiological study, can be found in the
section on Clinical and Translational Research in Chapter 3.
Summary of NIH Activites
The NIH mission encompasses a broad range of activities, from the pursuit of fundamental knowledge
about the nature and behavior of living systems to the application of that knowledge to extend healthy
life and reduce the burdens of illness and disability. As part of this continuum from basic to
applied research, epidemiological and longitudinal studies are critical for the translation of
research findings to real-world application at the population level. In addition to testing hypotheses
generated through basic, translational, and clinical research, these types of studies often
result in the formulation of new or modified hypotheses, spurring new laboratory and clinical
studies. Thus, epidemiological and longitudinal studies are essential for linking bench to
bedside to population and help ensure that public investment in research delivers tangible
value by providing an empirical perspective on the accrual and application of scientific
knowledge. Numerous prior and ongoing NIH studies have yielded results with meaningful implications
for the health of the population. This progress has been due to a variety of factors, including
a longstanding and continuous investment in epidemiological and longitudinal research, a
deeply entrenched culture of cooperation, and a commitment to gaining a comprehensive
understanding of health and disease.
Investments in the Past Continue to Pay Off
NIH has been investing in epidemiological and longitudinal studies for more than 50 years.
The infrastructure created and the data collected from these studies continue to
advance understanding of disease and health in new and exciting ways. Prolonged
followup also has enormously increased the value of these studies, and their
existence helps form the foundation for extraordinary opportunities in biomedical
research today. Below are highlights of select NIH research activities that illustrate
how findings from long-term population-based studies have elucidated different
facets of important public health issues.
Results of large, national longitudinal studies have helped guide medical recommendations
for specific populations, substantially improving their health outcomes. For example, in 1991, NIH launched the
Womens Health Initiative
(WHI), a national longitudinal study that included nearly 162,000 women of many racial and ethnic
backgrounds––the largest and most comprehensive study of women to date. Over the next 15
years, WHI conducted clinical trials and observational studies to identify
strategies for preventing heart disease, breast and colorectal cancer, and osteoporotic
fractures in postmenopausal women. One of the most important discoveries of the original
WHI studies was that estrogen plus progestin hormone therapy increases risk of breast
cancer and may also increase risk of coronary heart disease, stroke, and pulmonary
This evidence led to a precipitous drop in use of hormone replacement
therapy by postmenopausal women, which is thought to have contributed to the 6.7
percent decline in breast cancer incidence observed in the following year.
addition to pursuing the primary study objectives of WHI, NIH encourages investigators
to take advantage of the specimens and data accumulated through WHI. To date, nearly 100
ancillary studies have been funded to research myriad issues that affect older women, from
domestic violence to periodontal disease. Many of these studies are carrying earlier WHI
results back to the laboratory in order to explain and build upon population-level
observations. One group is surveying over 1,000 proteins in specimens collected from WHI
subjects with the goal of identifying a small group of proteins that will predict both
risk of disease and response to hormone therapy.
Long-term longitudinal studies also can uncover health trends related to peoples social
and cultural behaviors, and thus suggest new health interventions. For instance, a recent
analysis of social network data collected on three generations of
Framingham Heart Study
subjects revealed that individuals are significantly more likely to become obese if they have
a friend, sibling, or spouse who becomes obese. Interestingly, the strongest association was
found between friends, not siblings, suggesting that social relationships play an even more
important role in obesity than genetic background. Furthermore, the effect was not observed
between neighbors who were not friends, indicating that social relationships are more important
than geographic or neighborhood factors.3
The observation that obesity—commonly attributed to genetic and individual behavioral factors—can also
spread through social ties has implications for public health interventions and suggests the possibility of harnessing
social networks to spread positive health behaviors.
Long-term population studies also have provided insight into intergenerational influences on health
and behavior. For example, NIH facilitated extensive research on linkages between parental factors
and child development by building on the U.S. Department of Labor
National Longitudinal Survey of Youth
––a longitudinal study designed to further understanding of how young Americans move into productive
roles in the economy. In 1979, the U.S. Department of Labor began collecting health, income, and
educational attainment information on a cohort of 14- to 22-year-olds. In 1986, NIH expanded the
study and began amassing extensive information on children born to women of the 1979 cohort on a
biennial basis; these children now range in age from 5 years to 20-something. The resulting
intergenerational database combines cognitive, social, and physical information about the
children with longitudinal information on family background, education, employment history,
and economic well-being. Studies on children of the 1979 cohort have spawned over 1,000 publications
on health and other outcomes, from the effects of family income on childrens health to the
effects of public policy on the investment of fathers in their children.
Longitudinal studies also can be used to inform the decisions of policymakers and assess both
short- and long-term effects of policies on health or health-related behaviors. In 1975, NIH
Monitoring the Future
(MTF), a study that tracks the beliefs, attitudes, and behaviors of adolescents and young adults.
MTF surveys approximately 50,000 students in grades 8, 10, and 12 each year. Among other things,
MTF gathers information on alcohol and other drug use, and its findings have been used by the
Office of National Drug Control Policy to monitor progress toward national health goals.
Survey results from 2007 show a 24 percent decline among the three grades combined in recent abuse (i.e.,
during the past month) of any illicit drug between 2001 and 2007. Also, during this period,
marijuana abuse has decreased roughly 25 percent, and teen cigarette use has declined by a third
to be the lowest point in the surveys history. The use of ecstasy has declined by more than half,
and methamphetamine use has plummeted by more than 60 percent since 2001.
to 860,000 fewer youth using illicit drugs, a testament to the impact of targeted drug
abuse prevention efforts, which, by depicting emerging trends, such surveys help to inform.
Culture of Cooperation
Bridging the gap between research and application requires the contributions of numerous
scientists with diverse expertise. Recognizing this, NIH fosters a culture of cooperation
that has yielded consortia of scientists enthusiastic about working together in
interdisciplinary teams and willing to make research results immediately and freely
available for the benefit of the whole research enterprise. This emerging big science
paradigm provides support for interdisciplinary epidemiological and longitudinal studies
and also promotes the creation of resources and tools that will help the broader scientific
community benefit from and build upon these studies.
NIH supports several studies that bring together expertise from multiple fields to more
effectively address research questions and/or simultaneously address multiple research
questions. For example,
the National Longitudinal Study of Adolescent Health
Add Health) was initiated in 1994 as a joint effort of 18 NIH Institutes and Federal
offices to examine how families, peers, schools, and neighborhoods influence the
health-related behaviors of adolescents in grades 7 through 12. A new wave of interviews
with the original Add Health cohort, now ages 24-32, will include collection of genetic
data and biological markers of disease processes, in addition to basic social, individual,
and behavioral data. The new design was developed by a collaborative team representing
the fields of epidemiology, cardiology, psychology, sociology, behavioral genetics,
nutrition, biostatistics, anthropology, medicine, molecular virology, statistics, and
survey research. Working together, these diverse teams will address a broad range of
research questions that collectively will yield a deeper understanding of the factors
influencing the health of young people.
Other multidisciplinary endeavors at NIH have engendered collective analyses, which extend
the power of these studies. As an example, the Magnetic Resonance Imaging (MRI) Study of
Normal Brain Development receives contributions from several NIH Institutes and Centers,
including NICHD, NIDA, NIMH, and NINDS. Researchers with expertise in child development,
neuropsychology, neurology, and imaging work together to increase understanding of normal
brain development. This longitudinal effort involves coordination of six Pediatric Study
Centers distributed across the country, all of which use cutting-edge technology to monitor
brain development in approximately 500 children from 7 days to 18 years of age. Importantly,
the Centers have developed and adopted a uniform approach to collecting these images to ensure
that their data can be collectively analyzed, extending the power and benefit of the study.
Data collected through the study are being used to build the Nations first normative database
of MRI images and accompanying clinical and behavioral data, all of which are being made
available to the scientific community. This knowledge will be valuable for future laboratory
and clinical studies examining the underlying causes of childhood disorders such as mental
retardation, developmental disabilities, mental illness, drug abuse, and pediatric
The MRI database is only one of the many tools NIH has created to facilitate research community
access to emerging scientific information. These resources are particularly relevant for genomic
studies. Building on recent knowledge gained through the Human Genome Project and the
International HapMap Project
NIH has launched a series of consortia that combine multiple cohorts to create powerful, large-scale
studies. One of these consortia, the
Cancer Genetic Markers of Susceptibility
(CGEMS) study, is performing genome-wide scans to identify genetic variants associated with risk
for developing cancer of the breast, prostate, and colon. The
Pancreatic Cancer Cohort Consortium
(PanScan) is conducting an analogous scan for pancreatic cancer, and scans are under way for lung,
bladder, and other cancers as well. All of the data collected through these studies will be freely
(the Cancer Bioinformatics Grid), a bioinformatics tool being developed for the explicit
purpose of transforming cancer research into a more collaborative, efficient, and effective
endeavor. CGEMS researchers recently identified a common genetic variant on chromosome 8 that
strongly predicts prostate cancer risk; interestingly, genetic variants in this same region
also have been associated with breast and colorectal cancers.6
These discoveries, made through population-based epidemiological studies, are already spawning new laboratory research,
allowing scientists to learn more about the molecular basis of prostate and other cancers.
The NIH investment in genome-wide analyses extends well beyond cancer. The
Database of Genotype and Phenotype
(dbGaP) was initiated in December 2006 as a platform to archive and distribute data generated by
the increasing number of studies exploring the association between specific genes and disease-related
traits. dbGaP already contains data from several studies, including the
Age-Related Eye Diseases Study
a prospective study of the clinical course of age-related macular degeneration and cataracts,
and the Parkinsonism Study, which collected genetic information on neurologically normal and
Parkinsons disease patients. This growing repository of freely available genomic data and
other similar resources illustrate a staunch commitment to data-sharing that should help
generate new hypotheses and spur discoveries that will eventually be translated into
A Comprehensive Understanding of Disease
NIH recognizes that efficient translation of scientific knowledge to population-level
application requires a systems approach that integrates genetics, biology, and the
social sciences, and also includes multilevel studies that illuminate the mechanisms
linking features of societies and communities to individual behaviors and health
outcomes. Performing these studies in diverse contexts, from the community to the global
level, contributes to a more comprehensive understanding of health and disease. NIH
supports a number of studies in the United States and worldwide aimed at uncovering how
these diverse elements interact to influence patterns of disease with the goal of identifying
new and effective approaches for prevention and treatment.
Numerous NIH-supported studies examine how genes, biology, behavior, and environment interact
to influence disease risk. For example, the
Jackson Heart Study
a prospective epidemiological study of cardiovascular disease among African Americans in
the Jackson, Mississippi, metropolitan area, is assessing genetic and other risk factors
that underlie cardiovascular disease. The study also is considering how sociocultural factors,
such as racism, discrimination, and coping strategies, affect disease in African Americans. In
another example, the
National Children's Study
will track more than 100,000 children from across the United States from the prenatal period through
age 21 to examine factors ranging from natural and man-made environment to biological, genetic,
social, and cultural influences. Researchers will analyze how these elements interact with
each other to influence health and disease in children throughout development. Plans also are
under way for the NIH-wide
Genes, Environment, and Health Initiative
which will use genomics, proteomics, and metabolomics to assess how genetic variance and
environmental exposures influence disease.
In addition to pursuing multifactorial explanations for disease risk, NIH is examining how
diverse factors converge to influence an individuals response to interventions. In 2002,
the NIH Diabetes Prevention Program revealed that individuals at high risk of type 2
diabetes could substantially lower disease occurrence through intensive lifestyle intervention.
Extensive followup of the same cohort through the
Diabetes Prevention Program Outcomes Study
also resulted in the identification of a genetic variant that predisposes people to type 2
diabetes. Importantly, researchers found that people with the high-risk genetic variant benefited
as much or more from intensive lifestyle intervention as did those without the variant. These
types of studies are becoming increasingly important as personalized medicine becomes a tangible
reality. Multilevel studies will lay the groundwork for the informed selection of preventive or
therapeutic interventions according to genetic, biological, behavioral, and environmental factors.
NIH also uses longitudinal and epidemiological studies to gather information on global
patterns of infectious diseases. These efforts not only will advance understanding of the
causes of these diseases, but also should contribute to the development of interventions to
lessen disease burden in the United States and worldwide. One illustration of this is the
Multinational Influenza Seasonal Mortality Study, an NIH-led collaborative that is analyzing
national and global epidemiological patterns associated with influenza virus circulation.
The goals of this large-scale collaboration are to evaluate and compare public health
strategies to alleviate the impact of seasonal influenza in different countries and better
understand the global circulation patterns of influenza and their impact on populations.
To this end, 20 countries have contributed data on mortality, virus surveillance, genomics,
and influenza control strategies. A more comprehensive understanding of influenza epidemiology
worldwide will result in the development of better vaccines as well as other types of strategies
to avoid future influenza pandemics.
A global perspective is also being acquired through
(the International Epidemiological Databases to Evaluate AIDS). This regional collaborative of centers on
five continents is focused on the harmonization and integration of data in order to pursue population-level
research questions about HIV/AIDS that cannot be addressed in single cohorts. Topics of
research will include HIV variants and resistance, HIV pathogenesis in different settings,
success of antiretroviral therapy, treatment history of HIV in different populations,
success of prevention strategies, and vaccines.
Epidemiological and longitudinal studies are essential to NIH efforts in bridging
the results of basic, translational, and clinical studies to applications in the
general population. In addition to testing hypotheses at the population level,
observations gathered through these studies help optimize existing interventions and
stimulate novel laboratory and clinical research. Many NIH epidemiological and longitudinal
studies have had substantial influence on public health. This success is due to a number
of factors, including investment in long-term studies, promotion of a culture of cooperation,
and pursuit of a comprehensive view of disease. The studies presented here represent only
a fraction of NIH efforts in this area. Although still not comprehensive, additional
notable examples of NIH-supported epidemiological and longitudinal studies, as well
as further information about the activities mentioned above, are found in the following section.
Notable Examples of NIH Activity
Key for Bulleted Items:
E = Supported through Extramural research
I = Supported through Intramural research
O = Other (e.g., policy, planning, and communication)
COE = Supported through a congressionally mandated Center of Excellence program
GPRA Goal = Concerns progress tracked under the Government Performance and Results Act
Investments in the Past Continue to Pay Off
Framingham SNP-Health Association Resource (SHARe):
The Framingham SHARe
is a comprehensive new effort by NIH and the Boston University School of Medicine to pinpoint
genes underlying cardiovascular and other chronic diseases. The program builds on the Framingham
Heart Study (FHS), which was begun in 1948 to identify factors that contribute to cardiovascular
disease, and on other NIH-funded research demonstrating that common but minute variations in human
DNA, called single nucleotide polymorphisms (SNPs), can be used to identify genetic contributors
to common diseases. The initiative will examine over 500,000 genetic variants in 9,000 study
subjects across three generations. NIH will develop a database to make the data available to
researchers around the world. The database will help researchers to integrate the wealth of
information collected over the years in the FHS with the new genetic data, resulting in an
increased understanding of genetic influences on disease risk, manifestation, and progression.
Because of its uniqueness in including three generations of subjects with comparable data obtained
from each generation at the same age, the FHS is the first study to be included in the SHARe initiative.
NIH is currently considering expansion of SHARe to include other large longitudinal studies such
as the Jackson Heart Study and the new Hispanic Community Health Study.
Womens Health Initiative:
In January 2007, NIH awarded support for a dozen 2-year
research projects to apply genomics, proteomics, and other innovative technologies to improve
understanding of several major diseases that commonly affect postmenopausal women. The new
endeavor builds on results of the long-running Womens Health Initiative, which conducted
several clinical trials and an observational study to examine strategies for preventing heart
disease, breast and colorectal cancers, and osteoporosis in a cohort of over 160,000 subjects.
Investigators will use stored blood, DNA, and other biological samples and clinical data to
analyze genetic factors and biological markers that may be useful in predicting disease outcomes
or the effects of therapeutic and preventive regimens in postmenopausal women.
Baltimore Longitudinal Study of Aging (BLSA):
In 2008, NIA will celebrate the
50th anniversary of the BLSA, Americas longest running scientific study of human aging. More
than 1,400 men and women ranging in age from their twenties to their nineties have been study
volunteers. The BLSA has generated significant findings to elucidate the normal course of aging
and disentangle the effects of disease from the normal aging process.
NIH supports several longstanding prospective cohort studies, including the
Study of Osteoporotic Fractures (SOF) in women and Mr. OS, a study of osteoporosis and
other age-related diseases in men. Major contributions from the SOF, which began in 1986,
include findings that bone mineral density of the hip is one of the best predictors of
fracture for women. Recently, Mr. OS researchers identified specific lifestyle, medical,
and demographic characteristics associated with low bone mass and fracture risk in
Given the Nations increasing diversity and changing demographics,
it is critical to understand how trends in such areas as immigration, fertility, marriage
patterns, and family formation affect the well-being of children and families. NIH research
in these areas allows policymakers and program planners to better address public health
needs. For instance:
- The Fragile Families and Child Well-Being Study follows children born to unmarried parents
to assess how economic resources, father involvement, and parenting practices affect
- The New Immigrant Survey follows the first nationally representative sample of legal
immigrants to the United States, providing accurate data on legal immigrants employment,
lifestyles, health, and schooling before and after entering the country.
- The National Longitudinal Survey of Youth (1979 cohort) continues to assess the work,
educational, and family experiences of a nationally representative cohort of young men and
women who were 14-22 years old when they were first studied in 1979. The study also follows
children born to female subjects up through age 20, creating the opportunity to study
intergenerational influences on child development, health behaviors, and educational attainment.
A Look at Drug Abuse Trends: Local to International:
- For more information, see https://www.fragilefamilies.princeton.edu/index.asp
- For more information, see https://nis.princeton.edu/
- For more information, see https://www.bls.gov/nls/nlsy79ch.htm
- This example also appears in Chapter 2: Life Stages, Human Development, and Rehabilitation.
- (E) (NICHD, NCI, NCMHD, NIA, NIAAA, NIAID, NIDA, NIDCD, NINR, OAR, OBSSR, ORWH)
Several major systems of
data collection are helping to identify substance abuse trends locally, nationally,
and internationally: Monitoring the Future Survey (MTF), the Community Epidemiology Work
Group (CEWG), and the Border Epidemiology Work Group (BEWG). All help to surface emerging
drug abuse trends among adolescents and other populations, and guide responsive national
and global prevention efforts. The MTF project, begun in 1975, has many purposes, the primary
one being to track trends in substance use, attitudes, and beliefs among adolescents and young
adults. The survey findings are also used by the Presidents Office of National Drug Control
Policy to monitor progress towards national health goals. The MTF project includes both
cross-sectional and longitudinal formats—the former given annually to 8th, 10th, and 12th graders
to see how answers change over time, and the latter given biennially, or every 2 years (until
age 30, then every 5 years) to follow up on a randomly selected sample from each senior class.
CEWG, established in 1976, provides both national and international information about drug abuse
trends through a network of researchers from different geographic areas. Regular meetings feature
presentations on selected topics, as well as those offering international perspectives on drug
abuse patterns and trends. A recently established Border Epidemiology Work Group represents a
collaboration of researchers from both sides of the U.S.-Mexico border. Of special interest
are drug abuse patterns and problems in geographically proximal sister cities/areas. Development
of a Latin American Epidemiology Network is under way. NIH has also provided technical consultation
for the planning and establishment of an Asian multi-city epidemiological network on drug abuse.
The Gila River Indian Community Longitudinal Study:
NIHs Phoenix Epidemiology
and Clinical Research Branch studies type 2 diabetes as it occurs among Pima Indians of Arizona,
who have the highest prevalence of diabetes in the world. Working closely with Pima volunteers,
the Branch has made substantial progress in identifying genetic, physiologic, and behavioral
factors that lead to obesity and diabetes. The Branch also has facilitated improved treatment
and prevention services in this community, leading to improved blood glucose control and blood
pressure in Pima with diabetes. One important result is that the rate of kidney failure due to
diabetes in Pima 45 years of age and older has declined since 1990.
The Role of Development in Drug Abuse Vulnerability:
NIH supports a number
of longitudinal studies at various stages of development, following cohorts over extended
timeframes. Information is gathered on childrens cognitive and emotional development, as
well as their vulnerability to addiction later in life. These studies have been critical to
estimate, for example, the contribution of in utero drug exposure to emotional and cognitive
development, vulnerability to substance abuse, and other mental disorders. This knowledge,
together with animal studies that provide complementary and validating information while
minimizing the confounding factors that are likely to play a role in prenatal effects of
drug exposure in humans, will help us to mitigate the deleterious impact of substance abuse
on the developing fetus. With regard to later developmental stages, the application of modern
brain imaging technologies has generated unprecedented structural and functional views of the
dynamic changes occurring in the developing brain (from childhood to early adulthood). The
discovery of these changes has been critical to understanding the role of brain development
in decision-making processes and responses to stimuli, including early exposure to drugs.
Such studies have suggested, for example, that an unbalanced communication between volitional
control and emotional circuits may explain some of the impulsive reactions typical of
adolescents, who tend to engage in risky behaviors, and are at heightened risk for developing
addictions. Collectively, these longitudinal studies, using new imaging and genetics tools,
promise a greatly enhanced ability to interpret the effects of myriad environmental variables
(e.g., quality of parenting, drug exposure, socioeconomic status, and neighborhood
characteristics) on brain development and behavior.
The Carolina Lupus Study:
Since 1997, NIH supported the Carolina
Lupus Study, the first population-based epidemiologic study to examine the influence
of hormonal and occupational exposures, in addition to genetic factors affecting immune
function and metabolism, on systemic lupus erythematosus (SLE). SLE is a severe, disabling
autoimmune disease that can lead to morbidity and mortality from renal and cardiovascular
disease. African Americans are two to three times more likely than whites to develop the
disease for reasons unknown. The study included 265 patients and 355 people without lupus
living in 60 counties in North and South Carolina. The results for analysis of occupational
exposure to silica dust in relation to risk for SLE were striking. Other associations
were seen with self-reported occupational exposure to mercury, in mixing pesticides for
agricultural work and among dental workers. Weaker associations were seen between SLE
and shift work and among health care workers with patient contact.
Culture of Cooperation
Health Care Delivery Consortia to Facilitate Discovery and Improve Quality of Cancer
: NIH supports
several research consortia that are designed to enhance understanding of cancer control across the
continuum of prevention, screening, and treatment within the context of health care delivery.
Database of Genotype and Phenotype (dbGaP):
- The most comprehensive of these initiatives, the Cancer Research Network (CRN),
seeks to improve the effectiveness of preventive, curative, and supportive interventions
for major and rare tumors. The CRN consists of the research programs, enrolled populations,
and data systems of 13 health maintenance organizations covering care for over 9 million
enrollees, or 3 percent of the U.S. population. This initiative uses a consortium of
delivery systems to conduct research on cancer prevention, early detection, treatment,
long-term care, and surveillance. Given its large and diverse populations, the CRN is
uniquely positioned to study the quality of cancer care in community-based settings and
to explore rare conditions. Seminal research includes, for example, CRN research
documenting specific gaps in implementing effective tobacco cessation services among
clinicians, reasons for late diagnosis of breast and cervical cancer, more rapid uptake
in the use of aromatase inhibitors in comparison to tamoxifen in treatment for breast
cancer, and examination of the role of a number of common drugs and cancer outcomes
using its large and automated pharmaceutical databases.
- In the area of the evaluation of cancer screening in clinical care, the
Breast Cancer Surveillance Consortium (BCSC)
is a collaborative network of mammography registries linked to tumor and/or pathology
registries designed to assess the delivery and quality of breast cancer screening
and related patient outcomes in the United States. Because of the vast size and
continually updated clinical information in this research initiative, the BCSC is
responsible for research that for the first time documented the falling incidence
of hormone replacement therapy among screened women, quantified the extent of
difference in the association of breast density with breast cancer risk among
premenopausal and postmenopausal women, and identified that although biopsy rates
are twice as high in the United States in comparison to the United Kingdom,
cancer detection rates are very similar in the two countries.
- In an effort to address how characteristics of patients, providers, and care
delivery systems affect the cancer management and treatment services that patients
receive, as well as the relationship between cancer-related clinical practices
and outcomes, including patient-centered outcomes, such as symptom control and quality of life, the
Cancer Care and Outcomes Research Surveillance Consortium (CanCORS)
was established. It supports prospective cohort studies on 10,000 patients with
newly diagnosed lung or colorectal cancers across geographically diverse populations
and health care systems and examines issues related to health outcomes, costs,
and patient-centered issues such as symptom control and quality of life.
Research on the connection between
genetics and human health and disease has grown exponentially since completion of the Human
Genome Project in 2003, generating high volumes of data. Building on its established research
resources in genetics, genomics, and other scientific data, NIH established dbGaP to house
this growing body of information, particularly the results of genome-wide association
studies (GWAS), which examine genetic data of subjects with and without a disease or specific
trait to identify potentially causative genes. By the end of 2007, dbGaP included results
from more than a dozen GWAS, including genetic analyses added to the landmark Framingham
Heart Study and trials conducted under the Genetic Association Information Network.
dbGaP is to become the central repository for many NIH-funded GWAS in order to provide
for rapid and widespread distribution of such data to researchers and accelerate the
advance of personalized medicine.
NIH Collaborative Psychiatric Epidemiology Surveys (CPES):
- For more information, see https://view.ncbi.nlm.nih.gov/dbgap
- This example also appears in Chapter 3: Disease Registries, Databases, and Biomedical Information Systems and Chapter 3: Genomics.
- (I) (NLM)
agreements, NIH supports the National Co-morbidity Survey-Replication (NCS-R), the National
Latino and Asian American Study (NLAAS), and the National Survey of American Life (NSAL).
These studies are large, nationally representative surveys assessing the prevalence and
correlates of mental health disorders. The NLAAS provides national information on the
similarities and differences in mental illness and service use of Latinos and Asian Americans.
The objectives of the NSAL are to investigate the nature, severity, and impairment of mental
disorders among national samples of the African American and non-Hispanic white
populations in the United States.
Genome-Wide Association Studies of Cancer Risk:
Beginning with the Cancer
Genetic Markers of Susceptibility (CGEMS) initiative for breast and prostate cancer, NIH
has capitalized on its long-term investment in intramural/extramural consortia by creating
strategic partnerships to accelerate knowledge about the genetic and environmental components
of cancer induction and progression. Using powerful new technology capable of scanning the
entire human genome, these efforts have recently identified unsuspected genetic variants
associated with increased risk for developing cancers of the prostate, breast, and colon.
Additional scans, either planned or under way, will be directed at cancers of the pancreas,
bladder, lung, and other organs. The results of these genome-wide studies, together with
the follow-on studies planned to narrow the search for causal gene variants, promise to
provide novel clinical strategies for early detection, prevention, and therapy. To expand
upon these emerging opportunities, a new Laboratory of Translational Genomics (LTG) has
been established to further characterize genetic regions associated with cancer susceptibility,
and to identify gene-gene and gene-environment interactions. The LTG will create
opportunities for collaboration and data-sharing in order to accelerate the translation
of genomic findings into clinical interventions.
Hispanic Community Health Study:
In October 2006, NIH began the
largest long-term epidemiological study of health and disease ever conducted in people
of Latin American heritage living in the United States. The project, which will include
about 16,000 subjects, is designed to identify factors that predispose individuals to
develop heart disease, stroke, asthma, chronic obstructive pulmonary disease, sleep
disorders, dental disease, hearing loss, diabetes, kidney disease, liver disease,
cognitive impairment, and other chronic conditions. Characteristics such as diet,
physical activity, obesity, smoking, blood pressure, blood lipids, acculturation,
socioeconomic status, psychosocial factors, occupation, health care access, environment,
and use of medications and dietary supplements will be assessed.
The Rapid Response Program:
- For more information, see https://www.nhlbi.nih.gov/new/press/06-10-12.htm
- This example also appears in Chapter 2: Chronic Diseases and Organ Systems and Chapter 2: Minority Health and Health Disparities.
- (E) (NHLBI, NCMHD, NIDCD, NIDCR, NIDDK, NINDS, ODS)
In April 2002, the Task Force on College
Drinking released its seminal report A Call to Action: Changing the Culture of Drinking
at U.S. Colleges. As part of its college focus, NIH initiated support of collaborations
between university personnel who have responsibility for alcohol programs on various
campuses and established college drinking researchers to implement and evaluate programs
to reduce underage alcohol use and its consequences.
- Dec. 2002 - RFA AA-03-008: Research Partnership Awards for Rapid Response to
College Drinking Problems. Five U01 (cooperative agreement) 5-year grants were awarded.
- June 2003 - PAR-03-133: Rapid Response to College Drinking Problems. Fifteen 3-year
grants were awarded.
- This rapid funding mechanism (U18, cooperative agreement) supports timely
research on interventions to prevent or reduce alcohol-related problems among
college students. It was intended to support studies of services or interventions
that could capitalize on natural experiments (e.g., unanticipated adverse events,
policy changes, new media campaigns, campus-community coalitions)
- Each U18 grantee was required to partner with a U01 grantee. Together, these
pairs, working with NIH Scientific Staff Collaborators, jointly design, develop,
implement, and evaluate college drinking projects on their campuses.
Polycystic Kidney Disease (PKD):
- This example also appears in Chapter 2: Chronic Diseases and Organ Systems, Chapter 3: Health Communication and Information Campaigns and Clearinghouses, and Chapter 2: Life Stages, Human Development, and Rehabilitation.
- (E) (NIAAA)
The Consortium for Radiologic Imaging Studies
of PKD (CRISP) showed that magnetic resonance imaging could accurately track structural changes
in the kidneys in people with the more common form of PKD. An extension, CRISP II, will continue
to monitor these patients to determine whether these changes in kidney volume predict changes
in kidney function. NIH is also conducting two clinical trials of people with the most common form
of PKD; one is in patients with early kidney disease and another in patients with more advanced
disease. These two trials are the largest multicenter studies of PKD conducted to date and are
collectively termed HALT-PKD. They are testing whether optimum blood pressure management, in
combination with medication, will slow the progression of PKD.
Health and Retirement Study (HRS):
The HRS is the leading source of combined
data on health and financial circumstances of Americans older than age 50 and a valuable
resource to follow and predict trends and help inform policies for an aging America. Now in
its 14th year, the study follows more than 20,000 people at 2-year intervals and provides
researchers with an invaluable, growing body of multidisciplinary data on the physical and
mental health of older Americans, insurance coverage, finances, family support systems, work
status, and retirement planning. Managed under a cooperative agreement between NIH and the
University of Michigan, the study was expanded in 2006 to include additional key constructs in
cognitive aging. A substudy will provide the first estimates of cognitive impairment and dementia
based on nationally representative data and validation of survey measures. HRS staff will also
assemble information on sample and questionnaire design, computer-assisted interview programming,
interviewer performance, and data dissemination to improve the quality of data collected and provide
an incentive for international partners to follow a harmonized design that will maximize
the potential for cross-national behavioral and social research on aging.
Magnetic Resonance Imaging (MRI) Study of Normal Brain Development:
- For more information, see https://hrsonline.isr.umich.edu/
- This example also appears in Chapter 2: Life Stages, Human Development, and Rehabilitation.
- (E) (NIA)
healthy brain development is essential to finding the causes of many childhood disorders,
including those related to mental retardation, developmental disabilities, mental illness,
drug abuse, and pediatric neurological diseases. NIH is creating the Nations first database
of MRI measurements and analytical tools, and clinical and behavioral data to understand
normal brain development in approximately 500 children from across the Nation. This large-scale
longitudinal study uses several state-of-the-art brain-imaging technologies. The data will be
disseminated as a Web-based, user-friendly resource to the scientific community.
National Longitudinal Study of Adolescent Health (Add Health):
Institutes are supporting this study, which integrates biomedical, behavioral, and social
science data to discover the pathways that lead to health and/or disease in adulthood.
NIH initially funded Add Health in 1994 as a social science study of the causes of
adolescent health problems and health-related behaviors. As the cohort of adolescents
has moved into early adulthood, the studys focus has shifted to the environmental, behavioral,
and biological pathways that lead to the development of adult chronic disease. The study
initially incorporated measurements of social environments—peer groups, families, schools,
and neighborhoods—that could affect health and also incorporated a sibling-pair design
that facilitated quantitative genetic studies. Most recently, in collaboration with other
Federal offices, NIH funded a new wave of interviews that will include collection of
genetic data and biological markers of disease processes, as well as basic social,
individual, and behavioral data. The new design was developed by a collaborative team
representing the fields of epidemiology, cardiology, psychology, sociology, behavioral
genetics, nutrition, biostatistics, anthropology, medicine, molecular virology, statistics,
and survey research.
Study of Normal Brain Development:
- For more information, see https://www.cpc.unc.edu/addhealt
- This example also appears in Chapter 2: Life Stages, Human Development, and Rehabilitation.
- (E) (NICHD, NCI, NCMHD, NIA, NIAAA, NIAID, NIDA, NIDCD, NINR, OAR, OBSSR, ORWH)
The NIH Intramural Research Program is
conducting studies to explore brain development in healthy children and adolescents using
magnetic resonance imaging. Recent studies have addressed brain structure differences
related to risk for Alzheimers disease and sex differences in brain development trajectories.
A Comprehensive Understanding of Disease
National Health and Nutrition Examination Survey (NHANES):
CDC uses rigorous surveys
such as NHANES to collect health information and disease burden statistics representative of the entire
U.S. population. Surveys also provide insight on health-seeking behaviors, as well as quality of life
experiences and priorities. NIH and CDC collaborate to generate stable national estimates of vision
impairment. A recent analysis of vision data indicated that 11 million of the estimated 14 million
Americans with vision impairment could have their vision improved to normal levels if they had
appropriate refractive correction (e.g., glasses or contact lens), including 9 percent of all
young adults ages 12-19.
Ocular Epidemiology Panel Report:
The broad aim of National Eye
Institute (NEI)-sponsored epidemiology research is to reduce the burden of visual impairment
through research into the causes, diagnosis, prevention, treatment, and rehabilitation of
the most prevalent blinding diseases. The ability to apply genetic and molecular tools
in the context of populations, in connection with behavioral, environmental, and social
factors, has transformed the potential contribution of epidemiology to the goal of
controlling the major blinding diseases. NEI recently convened an expert panel to
assess the unique needs and opportunities in ocular epidemiology that result from
these new tools and to make recommendations for their application in future research.
The panels recommendations are contained in its report Epidemiological Research:
From Populations through Interventions to Translation.
Multi-Ethnic Study of Atherosclerosis (MESA):
In an ancillary study to
the NHLBI-sponsored MESA, retinal disease was assessed in more than 6,000 African American,
Hispanic, White, and Asian subjects in this large population-based study of cardiovascular
health. Eyes of African American and Hispanic study subjects are more likely to have signs
indicative of diabetic eye disease whereas the eyes of White and Chinese subjects are more
likely to show signs of age-related macular degeneration. Other analyses demonstrate
racial/ethnic differences in the relative size and characteristics of the blood vessels
lining the back of the eye, which are associated with various cardiovascular profiles.
Future analyses will expand on these results and will consider the impact of genes,
alone and in combination with differential exposure to environmental factors, such as
cigarette smoke and air pollution, on retinal health.
Chronic Kidney Disease (CKD) and End-Stage Renal Disease (ESRD):
Chronic Renal Insufficiency Cohort (CRIC) study is investigating the relationship
between CKD and cardiovascular disease. With approximately 3,000 subjects, this is
the largest cohort study of CKD undertaken to date. The Chronic Kidney Disease in
Children Study (C-KiD) is a cohort study of 540 children. It aims to identify novel
and traditional kidney disease risk factors for the progression of CKD, and to
characterize the impact of a decline in kidney function on neurodevelopment,
cognitive abilities, and behavior. The U.S. Renal Data System is a national data
system that collects, analyzes, and distributes information about CKD and ESRD
in the United States.
Diabetes Control and Complications Trial (DCCT)/Epidemiology of Diabetes Interventions and
The DCCT demonstrated that intensive control of blood glucose levels
reduced complications of the eyes, nerves, and kidneys in type 1 diabetes patients. Long-term findings
from the follow-on EDIC study show that intensive control lowers risk of heart disease. This research
revolutionized disease management, leading to the recommendation that patients should begin intensive
therapy as early as possible. EDIC recently found that recurrent hypoglycemia associated with intensive
control does not affect patients long-term cognitive function. After over 20 years of studying this
patient cohort, crucial insights continue to emerge.
Diabetes Prevention Program Outcomes Study (DPPOS):
NIH Diabetes Prevention Program clinical trial showed that lifestyle change or
treatment with the drug metformin significantly delayed development of type 2
diabetes in people at high risk. The DPPOS is a long-term followup study of
the DPP subjects that is determining the durability of the interventions in
preventing disease. DPP researchers recently confirmed that a variant in a
gene predisposes people to type 2 diabetes. DPP subjects at highest genetic
risk benefited from healthy lifestyle changes as much or more than those who
did not inherit the variant. Participants over 60 years of age responded
especially well to the lifestyle intervention, showing a 71 percent risk
reduction in the incidence of diabetes, as compared to groups treated with
metformin or standard medical advice. The lifestyle intervention had greater
impact with increasing age (from age 25 to over 60) while the metformin
treatment had progressively less impact with increasing age.
National Epidemiologic Survey on Alcohol and Related Conditions (NESARC):
- Florez JC, et al. N Engl J Med 2006;355:241-50, PMID: 16855264
- For more information, see https://tinyurl.com/24okog
- For more information, see https://tinyurl.com/295h4l
- This example also appears in Chapter 2: Chronic Diseases and Organ Systems and Chapter 3: Clinical and Translational Research.
- (E) (NIDDK, CDC, IHS, NCMHD, NEI, NHLBI, NIA, NICHD, ORWH)
This nationally representative survey collected comprehensive, detailed data from
approximately 40,000 individuals on alcohol consumption, use of 10 categories of
drugs, and symptoms of alcohol and specific drug use disorders, as well as mood,
anxiety, and personality disorders. In addition to diagnostic criteria, NESARC
assessed indicators of impairment and distress due to each disorder, as well as
disorder-specific treatment and help seeking. Analysis of these data is ongoing
and continues to provide valuable information such as prevalence and comorbidity
of mental health and substance use disorders. In addition, because NESARC data include
a representative sample of ethnic and racial minority populations in the United States,
a better assessment of the needs of specific populations can be made. One recent study
using these data examined differences in the use of alcohol treatment services across
the three largest ethnic groups in America. It showed Hispanics and African Americans
with higher levels of problem severity were less likely to have used treatment services
than Whites with problems of comparable severity, providing useful information
about disparities in treatment utilization.
Boston Area Community Health Study (BACH) Survey:
cystitis/painful bladder syndrome (IC/PBS) is a urologic condition whose prevalence
is uncertain and which remains difficult to diagnose and treat. The Boston Area
Community Health (BACH) Survey is a population-based study of urologic conditions,
including IC/PBS, in over 5,500 adults in Boston. Results emerging from BACH about
IC/PBS prevalence by demographic group, the role of comorbid conditions, and the
impact of IC/PBS on quality of life are providing a clearer picture of the IC/PBS
burden in the population and will inform research efforts to reverse this burden.
Multinational Influenza Seasonal Mortality Study:
NIH is leading
an international collaborative effort to analyze national and global epidemiological
patterns associated with influenza virus circulation. Twenty countries have contributed
data on mortality, virus surveillance, genomics, and control strategies. The goals of
this large-scale collaboration are to evaluate and compare public health strategies to
alleviate the impact of seasonal influenza in different countries, and understand the
global circulation patterns of influenza and their impact on populations. A better
understanding of influenza epidemiology worldwide can inform vaccine strain selection
and strategies to mitigate future influenza pandemics.
Screening Infants for Congenital CMV Infection:
- For more information, see https://origem.info/misms/
- This example also appears in Chapter 2: Infectious Diseases and Biodefense.
- (O) (FIC)
develop and evaluate the efficacy of neonatal screening for congenital cytomegalovirus
(CMV) infection to permit identification of infants who will develop CMV-induced
hearing loss in the first years of life. Approximately 1 percent of newborns,
or about 40,000 infants each year, are born infected with CMV. As much as 20 to 30
percent of childhood hearing loss is caused by CMV, the most common virus that is
passed from a mother to her unborn child. However, 90 percent of CMV-infected
children show no symptoms at birth. Due to the compelling but limited data on congenital
CMV infection and hearing loss in infants, NIH funded a research contract to the
University of Alabama School of Medicine, Birmingham (UAB). The contract funds UAB
to lead a multicenter longitudinal study entitled CMV and Hearing Multicenter
Screening (CHIMES) Study, on the role of congenital CMV in the development of hearing
loss in children. A major focus of this research is identifying asymptomatic children
and following their progress to determine whether hearing loss develops. The CHIMES
study is one of the largest studies of its kind with approximately 100,000 children to
be screened at birth for CMV infection. Those who test positive for CMV will undergo
followup diagnostic hearing testing to determine the onset, severity, and progression
of hearing loss. NIH-supported scientists are combining screening newborns for CMV infection
with newborn hearing screening to improve our ability to detect and predict hearing
loss in children.
International Training and Research Program in Population and Health:
program supports U.S. universities that provide training to scientists from developing
countries in population studies or reproductive biology. Objectives of this program include
enhancing population research programs and international collaborative studies on (a)
reproductive processes and contraceptive development and (b) demographic processes, including
aging, mortality, morbidity, fertility, migration, and linkages between health and economic
development; strengthening the ability of scientists from developing nations to contribute
to global population research efforts and advance knowledge in support of population policies
appropriate for their home countries; and developing and strengthening centers of research
excellence in population-related sciences in developing countries.
Jackson Heart Study:
The Jackson Heart Study, a large epidemiological
study of cardiovascular disease (CVD) among over 5,300 African American residents of
Mississippi, has been renewed through FY 2013. The project is exploring genetic, biological,
and environmental factors that influence the development and course of CVD in African
Americans. It is also seeking to expand minority participation in public health and
epidemiological research by providing classes and hands-on training to interested
undergraduate students. Moreover, a community health education component is using data
derived from the study cohort to develop and disseminate up-to-date information on
reduction of risk factors, practice of healthy lifestyles, and adherence to proven
Retrovirus Epidemiology Donor Study (REDS):
- For more information, see https://jhs.jsums.edu/jhsinfo/
- This example also appears in Chapter 2: Chronic Diseases and Organ Systems and Chapter 2: Minority Health and Health Disparities.
- (E) (NHLBI, NCMHD)
REDS was begun by NIH in 1989
to determine the prevalence and incidence of HIV infection among blood donors and the
risks of transmitting HIV and other viruses via transfusions. In 2004, NIH launched REDS-II
to monitor the appearance of newly discovered infectious agents in the blood supply,
evaluate the characteristics and behaviors of voluntary blood donors, determine the causes
of transfusion reactions of unknown etiology, assess the results of new donor screening
methods, assess the effects of new blood banking technologies, and evaluate the donation
process. In 2005, an international component was added to REDS-II to conduct research on
blood donors in selected countries seriously affected by the AIDS epidemic to ensure the
safety and availability of blood for transfusion.
Improving the Lives of Asthmatic Children in the Inner City:
Inner-City Asthma Consortium (ICAC) evaluates the safety and efficacy of promising
immune-based therapies to reduce asthma severity and prevent disease onset in inner-city
children, who are disproportionately affected by asthma. An ICAC longitudinal birth
cohort study involving 500 inner-city children is investigating the immunologic causes
of the development of recurrent wheezing, a surrogate marker for asthma in children
under three. The ICAC is also conducting a multicenter trial to evaluate the safety
and efficacy of Xolair (omalizumab) in children with moderate to severe allergic asthma
whose symptoms are inadequately controlled with inhaled steroids. Finally, researchers
are conducting a clinical trial to determine the safety and dosing levels of a potential
new allergy immunotherapy for cockroach allergen, which previous ICAC findings showed
are a major determinant of asthma severity among inner-city children.
Therapies to Treat and Prevent Food Allergies:
- This example also appears in Chapter 2: Chronic Diseases and Organ Systems and Chapter 3: Clinical and Translational Research.
- (E) (NIAID)s
The NIH Consortium
of Food Allergy Research is developing immune-based approaches to treat food allergy,
rather than to simply avoid food allergens. Basic studies are ongoing using mouse
models to study how modified forms of peanut allergens protect against peanut-induced
anaphylaxis. The five clinical sites of the Consortium are developing treatment and
prevention strategies for food allergy, and they work to educate parents and health
care providers regarding food allergies. An ongoing observational study is examining
immune mechanisms, genetic factors, and environmental factors associated with the
development of new food allergy to peanut and the loss of egg allergy to high-risk
children. An interventional study aims to determine the safety and immunologic effects
of giving egg by mouth to egg-allergic children, with the goal of inducing immunological
tolerance. Phase I clinical trials are assessing the safety of treating peanut-allergic
subjects with either a modified form of peanut allergen or small amounts of peanut
allergen under the tongue.
Prenatal Alcohol, Sudden Infant Death Syndrome (SIDS), and Stillbirth (PASS)
Following a 3-year feasibility study, NIH established
this multidisciplinary consortium in order to determine the role of prenatal
alcohol exposure and other maternal risk factors in the incidence and etiology
of SIDS, stillbirth, and fetal alcohol syndrome, all of which are devastating
pregnancy outcomes. The PASS study will follow 12,000 pregnant high-risk
American Indian and South African women and their infants prospectively until
the infants are 12 months old. Maternal, fetal, and infant measures and tissues
will be obtained for analysis.
Orofacial Pain: Prospective Evaluation and Risk Assessment (OPPERA):
This 5-year clinical studys longitudinal design will greatly accelerate the
identification of better treatments to control the pain of temporomandibular
joint and muscle (TMJ) disorders. The OPPERA study marks one of the first
prospective clinical studies of a chronic pain disorder. A prospective study
is the gold standard of medical research: It looks forward in time,
monitoring the health of those in the study over several years to track the
onset or progression of a disease. With the studys 5-year vantage point,
investigators will begin identifying individual genetic, physiologic,
and psychological factors that cause or contribute to TMJ disorders and
advance virtually all aspects of understanding and caring for these disorders.
Studies of Diabetes in Youth:
Previously known as a disease of adults,
type 2 diabetes is increasingly being observed in youth. The Treatment Options for
Type 2 Diabetes in Youth study is comparing three different treatment strategies
for children with the disease. The SEARCH for Diabetes in Youth Study is providing
key data on childhood diabetes incidence and prevalence. SEARCH estimated that 1
of every 523 youths had physician-diagnosed diabetes in 2001. While type 2 diabetes
is increasing in children over 10, particularly minorities, type 1 diabetes
accounts for most new cases, with an estimated 15,000 youths diagnosed annually.
The Environmental Determinants of Diabetes in the Young:
the environmental factors, such as infectious agents or diet that can trigger type
1 diabetes in genetically susceptible individuals, is crucial to developing prevention
strategies. To address this knowledge gap, NIH established The Environmental Determinants
of Diabetes in the Young (TEDDY) consortium. This international consortium is enrolling
newborns at high genetic risk and following them until age 15 to identify environmental
triggers for type 1 diabetes. The study is amassing the largest set of data and
samples in the world for newborns at risk for type 1 diabetes.
The Sister Study:
- For more information, see https://teddy.epi.usf.edu/
- This example also appears in Chapter 2: Chronic Diseases and Organ Systems and Chapter 2: Life Stages, Human Development, and Rehabilitation.
- (E) (NIDDK, CDC, NIAID, NIEHS)
The Sister Study is a major NIH initiative
to study environmental and genetic risk factors for breast cancer in a cohort
of 50,000 sisters of women who have had breast cancer. The asymptomatic women
are being followed over time with periodic health updates. The women who
develop breast cancer during the followup period will be compared with those who
remained healthy to identify factors associated with increased cancer risk.
Cognitive and Emotional Health Project:
The Healthy Brain:
The purpose of this initiative is to assess the state of longitudinal
and epidemiologic research on determinants of cognitive and emotional
health in aging adults. The project has completed a comprehensive review
of measures that have been (or could be) used in epidemiological research.
To help NIH learn what epidemiological data exist on the cognitive and
emotional health of adults in the United States, the project polled investigators
who are conducting these types of studies and created an online database.
In addition, a Critical Evaluation Study Committee conducted an analysis
and published a summary of the existing scientific literature pertaining
to factors involved in the maintenance of cognitive and emotional health in
adults. NIH is discussing new initiatives to expand this project, including
promoting the use of existing datasets and developing ancillary studies to
examine how cognitive and emotional health influence each other.
HIV/AIDS Epidemiological and Long-term Cohort Studies:
epidemiologic HIV research through a wide range of cohort studies that contribute
to our understanding of risk factors that lead to HIV transmission and disease
progression. Established in 2005, the International Epidemiologic Databases to
Evaluate AIDS (IeDEA) compiles data from NIH-funded international HIV research
to answer population-level questions about HIV variants and resistance, HIV
pathogenesis in different settings, success of antiretroviral therapy, treatment
history of HIV in different populations, success of prevention strategies, and
vaccines. The Pediatric HIV/AIDS Cohort Study (PHACS) established in 2005 addresses
two critical pediatric HIV research questions: the long-term safety of fetal
and infant exposure to prophylactic antiretroviral chemotherapy and the effects
of perinatally acquired HIV infection in adolescents. The Women's Interagency
HIV Study (WIHS) and the Multicenter AIDS Cohort Study (MACS) are the two largest
observational studies of HIV/AIDS in women and homosexual or bisexual men, respectively,
in the United States. These studies exceed standard clinical care diagnostics and
laboratory analysis on both HIV infected, and importantly, HIV negative controls,
which allows for novel research on how HIV spreads, how the disease progresses,
and how it can best be treated. The studies focus on contemporary questions such
as the interactions between HIV infection, aging, and long-term treatment;
cardiovascular disease; and host genetics and its influence on susceptibility
to infection, disease progression, and response to therapy.
The National Childrens Study (NCS):
The NCS promises to be one of
the richest information resources available for answering questions related to
childrens health and development and will form the basis of child health guidance,
interventions, and policy for generations to come. The landmark study will examine
the effects of environmental influences on the health and development of more
than 100,000 children across the United States, following them from before birth
until age 21. This extensive research effort will examine factors ranging from
those in the natural and man-made environments to basic biological, genetic,
social, and cultural influences. By studying children through their different
phases of growth and development, researchers will be better able to understand the
role of these factors in both health and disease. Specifically, the NCS will identify
factors underlying conditions ranging from prematurity to developmental disabilities,
asthma, autism, obesity, and more. The study is led by a consortium of Federal agencies
including NICHD and NIEHS at NIH, CDC, and EPA.
Environmental Health of Mothers and Babies:
The Norwegian Mother
and Child Cohort Study: NIH is participating in the Norwegian Mother and Child Cohort
Study, which provides a valuable opportunity to assess the role of environmental
exposures in the health of women and their children. The Norwegian Mother and Child
Cohort Study or MoBa (den norske Mor & barn-undersØkelsen) is an ongoing long-term
prospective cohort study of 100,000 pregnant Norwegian women and their children. In
collaboration with the Norwegian National Public Health Institute (NIPH), NIH is
supporting the collection of additional biologic specimens from the pregnant women.
These specimens will be used for the measurement of environmental exposures.
A variety of exposure and health variables on babies, mothers, and fathers are
collected. Records from the cohort study will also be linked to routine national
Databases for Cervical Cancer Research:
NIH has developed data
analysis and image recognition tools for studying biomedical images of human
papillomavirus (HPV) infection and cervical neoplasia. Image data include 100,000
cervicographs (high-definition cervical photograph), Pap test, and histology images.
Tools allow the exploration of visual aspects of HPV and cervical cancer, for research,
training, and teaching.
U.S.-Born Children of Immigrants May Have Higher Risk for Mental Disorders
In the first studies to examine the effects of immigration and
years of residence on the mental health of Caribbean Black, Latino, and Asian populations
in the United States, NIH-funded researchers found that immigrants in general appear to have
lower rates of mental disorders than their U.S.-born counterparts.
Retinopathy Occurs in Middle-aged Adults Even Without Diabetes:
of retinopathy are common in the eyes of the elderly, particularly in those with
diabetes. In the Atherosclerosis Risk in Communities (ARIC) Study, African American
subjects were significantly more likely to have signs of retinopathy (13 percent)
compared to White subjects (5.5 percent). Among persons with diabetes, 27 percent
had signs of retinopathy. Unexpectedly, retinopathy signs were also observed in 4.3
percent of people who did not have frank diabetes but tended to have elevated blood
pressure. Future studies will examine whether these signs of retinopathy result from
high blood pressure and whether they indicate an increased risk of systemic cardiovascular
disease or predict a subsequent diagnosis of diabetes.
1 Rossouw JE, et al. JAMA 2002;288:321-33, PMID: 12117397
2 Ravdin PM, et al. N Engl J Med 2007;356:1670-4, PMID: 17442911
3 Christakis NA, Fowler JH. N Engl J Med 2007;357:370-9, PMID: 17652652
4 Johnston LD, O'Malley PM, Bachman JG, Schulenberg JE. (December 11, 2007), Overall, illicit drug use by American teens continues gradual decline in 2007 University of Michigan News Service: Ann Arbor, MI. [Online].https://www.monitoringthefuture.org/
5 Evans AC, et al. Neuroimage 2006;30:184-202, PMID: 16376577
6 Yeager M, et al. Nat Genet 2007;39:645-9, PMID: 17401363