NIEHS's New Strategic Plan: 2012-2017
August 1, 2012 – NIEHS director introduces the 2012-2017 strategic plan for NIEHS, "Advancing Science Improving Health: A Plan for Environmental Health Research." NIEHS, with the help of its stakeholders, lays out a plan that has descriptive strategic themes and 11 goals that are identified as priority areas for the field. As the NIEHS moves forward, our overall goal is to make the institute, including the National Toxicology Program (NTP), the foremost trusted source of environmental health knowledge, leading the field in innovation and the application of research to solve health problems.
Global climate change paper identifies 11 key categories for study
An NIEHS-led interagency effort identified 11 key categories of diseases and other health consequences of global climate change. As part of an ad hoc interagency working group on climate change and health, NIEHS teamed up with other government and international researchers to address public health concerns and vulnerability related to climate change. Discussions demonstrated that climate change mitigation strategies, in addition to reducing greenhouse gases, have additional benefits for public health. The group issued its report on Earth Day, April 21, 2010, as a supplement to the NIEHS journal, Environmental Health Perspectives. In 2009, the Institute of Medicine Roundtable on Environmental Health Sciences, Research and Medicine concluded that research on climate change needed to be reframed to emphasize human health impacts and research gaps. As a result, the working group was formed. Researchers following up on the group’s report will develop strategies to promote health and reduce greenhouse gas emissions. Mitigation strategies include reducing household energy emissions, reducing motor vehicle use, developing and using low-carbon electricity, and reducing meat consumption.
Liver enzyme decreases drug metabolism
Genetic tests are available for the two principal alleles of CYP2C9. Researchers found a null allele of CYP2C9 that decreases metabolism of both warfarin and phenytoin and a second deleterious allele reported in African-Americans on warfarin. Collaborative clinical studies have shown that metabolism of tolbutamide, phenytoin, and warfarin are altered in people with genetic polymorphisms of CYP2C9, affecting dosage requirements and sometimes causing dangerous or fatal bleeding episodes in patients on warfarin as an anticoagulant.
NIEHS Sister Study on breast cancer, environment and genes fully enrolled and in follow-up phase
The NIEHS Sister Study is a prospective cohort study of how the environment and genes together affect the chance that a woman will get breast cancer and other diseases. The study includes 50,884 women ages 35-74 recruited from every state and Puerto Rico who have never had breast cancer themselves, but who have a sister diagnosed with the disease. The study, which is the largest of its kind, has already reported some preliminary findings about how factors such as weight and perceived stress may influence health and how early-life exposures may influence development of uterine fibroids and age at menopause. The study started in 2004, enrollment was completed in 2009, and women will be followed prospectively for 10 or more years. The study has led to spin-off projects such as the Two Sister Study, a family-based study of genes and environment funded by a grant from Komen for the Cure.
RNA polymerase stalling potentiates gene activity by maintaining open chromatin structure
NIEHS researchers in the Transcriptional Responses to the Environment Group announced new findings in their study of the stalling of RNA polymerase II as it begins to transcribe a gene. The most recent findings complement earlier research demonstrating that the stalling (or pausing) of RNA polymerase is widespread throughout the genome. Researchers found that stalling could enhance gene expression by preventing epigenetic changes like the formation of repressive chromatin structures, and that stalling is important for regulation of mammalian immune response, including the critical inflammatory mediator TNF-alpha. The group developed tools to perform high-resolution mapping of stalled RNA polymerase complexes across the genome, using next-generation sequencing technologies. In addition to confirming the widespread regulation of genes by polymerase stalling, these studies reveal that DNA sequences in the promoter region influence pausing and RNA polymerase dynamics.
Electronic sensor technologies are focus of NIH's Genes, Environment and Health Initiative and NIEHS' Exposure Biology Program
NIH- and NIEHS-funded researchers are focused on the development of electronic sensor technologies and similar devices such as so-called electronic noses. These small, wearable sensors could detect high exposures to toxic chemicals that pose serious health risks in the workplace or through accidental exposure. The research is conducted under an NIH-wide initiative launched in 2006 by the U.S. Department of Health and Human Services that includes NIEHS. In particular, an emphasis is placed on creating miniaturized wearable sensors for measuring pollutants, dietary intake, physical activity, and psychosocial stress, and the biological response to each of those factors.
More than 8 Million genetic variations, or single nucleotide polymorphisms (SNPs), identified in 15 mouse strains
Researchers announce they have successfully sequenced the DNA of 15 mouse strains most commonly used in biomedical research. More than 8.3 million genetic variations, or single nucleotide polymorphisms (SNPs), were discovered among the genomes of the 15 mouse strains, and the data are now available on a public website.
NIEHS releases strategic plan
In May, NIEHS unveiled a strategic plan aimed at challenging and energizing the scientific community to use environmental health sciences to improve human health and understand the causes of disease. The plan, "New Frontiers in Environmental Sciences and Human Health," called for interdisciplinary teams of scientists to investigate a broad spectrum of disease factors, including environmental agents, genetics, age, diet, and activity levels.
PON1 may indicate disease from pesticide exposure
NIEHS-funded research demonstrated that a gene known as paraoxonase 1 (PON1) may serve as an important indicator for disease from pesticide exposure. The gene has been found to play a critical role in breaking down organophosphate insecticides. The high or low activity level of PON1 during pregnancy and early-life development may either protect or leave individuals who are exposed to pesticides more vulnerable.
Microarrays provide more consistent disease testing
Researchers found that using a standardized process and commercially manufactured microarrays, or gene chips, produced the best reproducible results. Their results were more consistent and reliable when using microarray technology to see how differences in gene expression are linked to specific diseases. This may allow for earlier detection of diseases such as cancer.
Toll-Like receptor 4 (TLR4) important in immune function
NIEHS researchers discovered a gene that plays an important role in immune function, known as toll-like receptor 4 (TLR4). It may also play a critical role in suppressing chronic lung inflammation and tumor development in mice.
DNA registry focuses on genotypes linked to disease
The Environmental Polymorphisms Registry (EPR) is a long-term research project to collect DNA samples from up to 20,000 individuals in the greater North Carolina Triangle region. These samples will be available to scientists to look for genes that may be linked to common diseases such as diabetes, heart disease, cancer, asthma and many others. The EPR allows scientists to screen participants for "genotypes of interest" and then invite the participants into follow-up phenotyping and/or toxicity studies on the basis of their genetic profile. The data collected from these studies will be used to define environmental risk factors and develop preventative strategies to reduce the incidence of disease. A consortium of multidisciplinary scientists has been assembled to focus research on genes that increase the risk of human disease when combined with environmental exposure, called environmental response genes.
Protein may block progression of Alzheimer's disease
NIEHS-funded researchers identified a brain protein known as transthyretin that may block the progression of Alzheimer's disease by inhibiting the effects of another protein, beta-amyloid peptide.
Defective alleles in liver enzymes linked to poor drug metabolism
NIEHS researchers in the Human Metabolism Group announced the identification and functional characterization of potentially defective alleles in human liver enzymes that are responsible for metabolizing therapeutic drugs, including anti-clotting medications and antidepressants. Genetic polymorphisms in the enzyme result in poor metabolism of the drugs. The researchers focused on single nucleotide polymorphisms (SNPs) in CYPC19.
Two new lines of genetically altered mice developed to study cancer
NIEHS researchers produced two lines of genetically altered mice that have a significant impact on the study of cancer development. Research with these mice showed that removal of two genes, COX-1 and COX-2, lead to a significant decrease in development of colon, skin, and intestinal cancers in laboratory animals.
Fathers' genetic birth defect more likely to pass to offspring
After analysis of more than 450,000 birth records, children's health researchers discovered that men and women with birth defects have a higher risk of passing that defect on to their children. Children of mothers are not at increased risk for defects other than the one carried by the mother, but researchers found children of fathers with birth defects have a significantly higher risk of birth defects of any kind.
Toxicogenomics Research Consortium formed
NIEHS awarded $37 million to five academic research organizations to form a Toxicogenomics Research Consortium with the Institute's own National Center for Toxicogenomics. Building a library of known toxins and the genes they turn "on" or "off " the center seeks to use an array of cloned genes to review chemicals for toxicity. Later, the technology may be used on individual patients to tailor preventive, diagnostic, and treatment methods.
Environmental Genome Project looks at gene variations: Some people develop disease while others do not
A new program is announced to explore gene variations, or polymorphisms, that influence people's susceptibility to environmental exposures that cause disease in some people but not others.
Gene cloned that suppresses prostate cancer
NIEHS researchers identified and cloned a gene that suppresses the spread of prostate cancer.
Researchers identify first breast, ovarian cancer gene: BRCA1
NIEHS and collaborators at the University of Utah isolated a tumor-suppressor gene known to play a critical role in the development of hereditary breast and ovarian cancer. BRCA1 was the first breast cancer gene to be identified.