October 31, 2012: The 1000 Genomes Project more than doubles catalog of human genetic variation
The world's largest, most detailed catalog of human genetic variation - used by disease researchers around the world - has more than doubled in size with the 1000 Genomes Project's latest publication in the Oct. 31 issue of Nature. The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, helps fund and direct this international public-private consortium of researchers in the United States, Britain, China, Germany and Canada.
October 28, 2012: NIH researchers identify novel genes that may drive rare, aggressive form of uterine cancer
Researchers have identified several genes that are linked to one of the most lethal forms of uterine cancer, serous endometrial cancer. The researchers describe how three of the genes found in the study are frequently altered in the disease, suggesting that the genes drive the development of tumors. The findings appear in the Oct. 28, 2012, advance online issue of Nature Genetics. The team was led by researchers from the National Human Genome Research Institute, part of the National Institutes of Health.
October 8, 2012: First recipients of research grants to support genomic studies in Africa announced
African scientists will conduct genomic research on kidney disease, diabetes, heart disease, obesity, tuberculosis and African sleeping sickness through inaugural grants of the Human Heredity and Health in Africa Consortium (H3Africa). The grants were announced by the two funding organizations, the U.S. National Institutes of Health and the Wellcome Trust, a global charity based in London. The organizations also awarded grants for the development of an African bioinformatics network and two pilot biorepositories, which are banks that maintain biospecimens for future scientific investigation.
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September 24, 2012: NIH ENCODE grants advance effort to survey entire human instruction book
Grants totaling $30.3 million in fiscal year 2012 will expand the ENCyclopedia Of DNA Elements (ENCODE), a comprehensive catalog of functional elements that control the expression of genetic information in a cell, the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, announced today. The ENCODE project's goal is to provide the scientific community with information they need to better understand the role that the genome plays in health and disease.
September 24, 2012: NIH launches Phase I clinical trial for rare degenerative muscle disease treatment
Last week, researchers launched a Phase I clinical trial to evaluate the drug candidate DEX-M74 as a treatment for patients suffering from Hereditary Inclusion Body Myopathy (HIBM), a rare degenerative muscle disease. National Institutes of Health (NIH) scientists from the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI) will conduct the clinical trial at the NIH Clinical Center.
September 21, 2012: Study reveals genomic similarities between breast cancer and ovarian cancers
One subtype of breast cancer shares many genetic features with high-grade serous ovarian cancer, a cancer that is very difficult to treat, according to researchers supported by the National Institutes of Health. The findings suggest that the two cancers are of similar molecular origin, which may facilitate the comparison of therapeutic data for subtypes of breast and ovarian cancers and was a collaborative effort funded by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both part of NIH. It was published online Sept. 23, 2012, in the journal Nature.
September 14, 2012: New NIH/NHGRI grants to harness nanoscale technologies to cut DNA sequencing costs
Grants of almost $19 million will help to develop technologies to dramatically reduce the cost of DNA sequencing, the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), announced today. Currently, the cost of sequencing a human genome using next-generation DNA sequencing technologies has dipped to just under $8,000.
September 11, 2012: NIH researchers restore children's immune systems with refinements in gene therapy
Researchers have demonstrated for the first time that a refined gene therapy approach safely restores the immune systems of some children with severe combined immunodeficiency (SCID). The rare condition blocks the normal development of a newborn's immune system, leaving the child susceptible to every passing microbe. Children with SCID experience chronic infections, which usually triggers the diagnosis. Their lifespan is two years if doctors cannot restore their immunity. The findings from facilities including the National Institutes of Health, the University of California, Los Angeles (UCLA), and the Children's Hospital Los Angeles, are reported in the Aug. 30, 2012, advanced online issue of the journal Blood.
September 10, 2012: NHGRI reorganized to meet expanding research mission
The National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) will complete a major reorganization to accommodate broad changes in its mission, Eric D. Green, M.D., Ph.D., NHGRI's director, announced today. The reorganization will become effective on Oct. 1, 2012, the start of the 2013 fiscal year. The reorganization includes dividing the institute's Extramural Research Program into four new divisions and promoting to division status the office overseeing policy, communications, and education, and the office overseeing administration and management.
September 9, 2012: TCGA discovers potential therapeutic targets for lung squamous cell carcinoma
Researchers have identified potential therapeutic targets in lung squamous cell carcinoma, the second most common form of lung cancer. The Cancer Genome Atlas (TCGA) Research Network study that appeared online Sept. 9, 2012, and in print Sept. 27, 2012, in the journal Nature, comprehensively characterized the lung squamous cell carcinoma genome. The study found a large number and variety of DNA alterations, many of which seem to be driving forces behind pathways that are important to the initiation and progression of lung cancer. TCGA is jointly funded and managed by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), both part of the National Institutes of Health (NIH).
September 5, 2012: ENCODE data describes function of human genome
After a multi-year concerted effort by more than 440 researchers in 32 labs around the world called ENCODE (The Encyclopedia of DNA Elements), researchers have produced a more dynamic picture of the human genome that gives the first holistic view of how the human genome actually does its job. During the new study, researchers linked more than 80 percent of the human genome sequence to a specific biological function and mapped more than 4 million regulatory regions where proteins specifically interact with the DNA. These findings represent a significant advance in understanding the precise and complex controls over the expression of genetic information within a cell. The findings are reported in two papers appearing in the Sept. 5 online issue of Nature.
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August 22, 2012: NIH uses genome sequencing to help quell bacterial outbreak in Clinical Center
For six months last year, a deadly outbreak of antibiotic-resistant bacteria kept infection-control specialists at the National Institutes of Health's (NIH) Clinical Center in a state of high alert. A New York City patient carrying a multi-drug resistant strain of Klebsiella pneumoniae, a microbe frequently associated with hospital-borne infections, introduced the dangerous bacteria into the 243-bed research hospital while participating in a clinical study in the summer of 2011. K. pneumoniae began to spread to other Clinical Center patients at the alarming rate of one a week. Clinical Center staff collaborated with investigators at the National Human Genome Research Institute (NHGRI), also part of NIH, to use genome sequencing to learn how the microbe spread. A report in the Aug. 22, 2012, early online edition of Science Translational Medicine describes how that collaboration helped quell the outbreak.
August 9, 2012: NIH seeks applications to study genomic sequencing in newborn period
The National Institutes of Health is seeking applications for research projects on the implications of information obtained from sequencing the genome to identify diseases in newborns. The intent of funding such projects is to further the understanding of disorders that appear during the newborn period and to improve treatments for these diseases.
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July 26, 2012: Media Availability: NIH team describes protective role of skin microbiota
A research team at the National Institutes of Health has found that bacteria that normally live in the skin may help protect the body from infection. Although immune cells in the skin protect against harmful organisms, until now, it has not been known if the millions of naturally occurring commensal bacteria in the skin - collectively known as the skin microbiota - also have a beneficial role. Using mouse models, the NIH team observed that commensals contribute to protective immunity by interacting with the immune cells in the skin. Their findings appear online on July 26th in Science. The authors of the paper are available for interviews.
July 18, 2012: Study shows colon and rectal tumors constitute a single type of cancer
The pattern of genomic alterations in colon and rectal tissues is the same regardless of anatomic location or origin within the colon or the rectum, leading researchers to conclude that these two cancer types can be grouped as one, according to The Cancer Genome Atlas (TCGA) project's large-scale study of colon and rectal cancer tissue specimens.
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June 13, 2012: NIH Human Microbiome Project defines normal bacterial makeup of the body
Microbes inhabit just about every part of the human body, living on the skin, in the gut, and up the nose. Sometimes they cause sickness, but most of the time, microorganisms live in harmony with their human hosts, providing vital functions essential for human survival. For the first time, a consortium of researchers organized by the National Institutes of Health has mapped the normal microbial make-up of healthy humans, producing numerous insights and even a few surprises.
June 12, 2012: Young patients benefit from collaboration between NIH and Children's National Medical Center
A new agreement to collaborate on clinical research studies involving young children will encourage greater insight into early origin and development of disease and discovery of new treatments for rare disorders. The Translational Research in Pediatrics Program is a joint effort from the National Institutes of Health and the NIH Clinical Center, both in Bethesda, Md., and Children's National Medical Center in Washington, D.C. The clinical expertise and infrastructure of Children's National to support a very young patient population and the state-of-the-art research facilities at the NIH Clinical Center will allow investigators to develop new studies addressing rare conditions at an earlier age.
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May 30, 2012: Odds of quitting smoking affected by genetics
Genetics can help determine whether a person is likely to quit smoking on his or her own or need medication to improve the chances of success, according to research published in today's American Journal of Psychiatry. Researchers say the study moves health care providers a step closer to one day providing more individualized treatment plans to help patients quit smoking.
May 21, 2012: NHGRI collaborates with Smithsonian to produce new genome exhibit
To celebrate the 10th anniversary of researchers producing the first complete human genome sequence - the genetic blueprint of the human body - the Smithsonian Institution in Washington, D.C., will open a high-tech, high-intensity exhibition in 2013. The exhibition will result from a collaboration of the Smithsonian's National Museum of Natural History (NMNH) and the National Human Genome Research Institute (NHGRI) of the National Institutes of Health.
May 17, 2012: NIH-led study finds genetic test results do not trigger increased use of health services
creasing opportunities to participate in genetic testing that can indicate their range of risk for developing a disease. Receiving these results does not appreciably drive up or diminish test recipients' demand for potentially costly follow-up health services, according to a study performed by researchers at the National Institutes of Health and colleagues at other institutions. The study in the May 17, 2012 early online issue of Genetics in Medicine was done by investigators with the Multiplex Initiative, a multi-center collaborative initiative involving investigators from the National Institutes of Health's Intramural Research Program, Group Health Cooperative in Seattle, and the Henry Ford Health System in Detroit.
May 6, 2012: Scientists find that chromosomal abnormalities are associated with aging and cancer
Two new studies have found that large structural abnormalities in chromosomes, some of which have been associated with increased risk of cancer, can be detected in a small fraction of people without a prior history of cancer. The studies found that these alterations in chromosomes appear to increase with age, particularly after the age of 50, and may be associated with an increased risk for cancer. The results of the studies were published online May 6, 2012, in Nature Genetics.
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April 25, 2012: NHGRI to develop revolutionary technologies for exploring genome function
The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, has awarded 10 grants, totaling $10.5 million, to develop revolutionary technologies that will help researchers identify millions of genomic elements that play a role in determining what genes are expressed and at what levels in different cells. These multi-year grants are part of the Encyclopedia of DNA Elements (ENCODE) project, whose aim is to provide the scientific community with a comprehensive catalog of functional genomic elements that will ultimately help explain the role that the genome plays in health and disease.
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March 29, 2012: 1000 Genomes Project data available on Amazon Cloud
The world's largest set of data on human genetic variation - produced by the international 1000 Genomes Project - is now publicly available on the Amazon Web Services (AWS) cloud, the National Institutes of Health (NIH) and AWS jointly announced today. The public-private collaboration demonstrates the kind of solutions that may emerge from the Big Data Research and Development Initiative announced today by the White House Office of Science and Technology Policy (OSTP) during an event at the American Association for the Advancement of Science in Washington, D.C.
March 28, 2012: Researchers identify genetic basis of tropical foot and leg lymphedema
Researchers think they know why some 4 million people in at least 10 countries worldwide develop podoconiosis or 'mossy foot'.One-fifth carry genetic variants that cause their immune system to react to the volcanic dust on their farms. The disease-producing response is triggered by exposure from the lack of shoes. The March 29, 2012 New England Journal of Medicine, published the international team study.
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January 11, 2012: NIH Scientists Find Cause of Rare Immune Disease
Investigators at the National Institutes of Health have identified a genetic mutation in three unrelated families that causes a rare immune disorder characterized by excessive and impaired immune function. Symptoms of this condition include immune deficiency, autoimmunity, inflammatory skin disorders and cold-induced hives, a condition known as cold urticaria. The study was led by Joshua Milner, M.D., in the Laboratory of Allergic Diseases at the National Institute of Allergy and Infectious Diseases (NIAID), and Daniel Kastner, M.D., Ph.D., scientific director at the National Human Genome Research Institute (NHGRI). It appears in the online edition of the New England Journal of Medicine on Jan. 11, 2012.
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Last Updated: March 25, 2013