NHGRI News Features from the Division of Intramural Research

Study delivers new insights about effects of metabolic disorder on cognition and learning

Sat, 24 Mar 2012 04:00:00 GMT

High-throughput screening finds surprising properties for antioxidants

Mon, 19 Mar 2012 04:00:00 GMT

Bert Vogelstein considers the cancer genome at 10th annual NHGRI Trent Lectureship

Thu, 15 Mar 2012 04:00:00 GMT

Researchers use genomics to differentiate two ovarian cancer subtypes

Mon, 05 Mar 2012 05:00:00 GMT

Researchers from NHGRI's Genome Technology Branch have distinguished among particular ovarian cancer subtypes based on signals that turn a gene on or off, a process known as DNA methylation. The findings, published in the March 5, 2012, issue of PLoS One, could lead to the precise classification of ovarian cancer tumors and improve treatment strategies.

Rare lethal disorder traced to variant of the PIGA gene on the X chromosome

Fri, 03 Feb 2012 05:00:00 GMT

Next-generation genomic sequencing — technologies that streamline the processing and analysis of DNA — are well suited to rare disease discovery, as a recent study led by National Human Genome Research Institute (NHGRI) researchers demonstrates.

NHGRI supports seven young investigators on research career paths

Mon, 28 Nov 2011 05:00:00 GMT

Four National Human Genome Research Institute postdoctoral fellows and three NHGRI-supported researchers at university laboratories recently received National Institutes of Health (NIH) Pathway to Independence Awards. The prestigious NIH award program helps young investigators make the transition from postdoctoral training to research independence.

Next-Gen 101: Video Tutorial on Conducting Whole-Exome Sequencing Research

Tue, 18 Oct 2011 04:00:00 GMT

On September 28, 2011, the National Human Genome Research Institute offered a daylong course to help researchers use the new and more affordable technique called whole-exome genome sequencing. NHGRI now offers archival video of the presentations for those unable to participate.

NIH researchers achieve better understanding of skin cancer

Mon, 26 Sep 2011 04:00:00 GMT

NHGRI's Dr. Yardena Samuels and an NIH-led team studying the genetics of melanoma have found that mutations in the metabotropic glutamate receptor-3 (GRM3) gene cause some cases of melanoma. The study is published in the September. 25, early online issue of Nature Genetics.

William Gahl honored with prestigious Service to America Medal

Fri, 16 Sep 2011 04:00:00 GMT

On September 15, the Partnership for Public Service, awarded NHGRI's William A. Gahl, M.D., Ph.D., the Science and Environmental Medal, one of nine Samuel J. Heyman Service to America Medals (the "Sammies") the Partnership bestowed at a Washington D.C. gala event. Sammies are awared to outstanding public servants for remarkable work assisting Americans in need, keeping us safe and advancing our national interests.

Dr. Chris Amos cuts through the smoke at NHGRI's Annual Trent Lecture

Wed, 14 Sep 2011 04:00:00 GMT

On September 7, Christopher I. Amos, Ph.D., professor of epidemiology and biomathematics at the University of Texas M.D. Anderson Cancer Center, took the Masur Auditorium podium on the National Institutes of Health Bethesda campus and described the evolution of our current understanding of the complex genetic and environmental relationship between smoking tobacco and lung cancer risk. His talk was the ninth annual Jeffery M. Trent Lectureship in Cancer Research.

NHGRI researchers serve up mysterious disease diagnosis - three ways

Mon, 15 Aug 2011 04:00:00 GMT

Combined malonic and methylmalonic aciduria, or CMAMMA is a disorder whose unwieldy name refers to the types of chemicals that accumulate in the blood and urine instead of being metabolized or converted to energy as in healthy people. A team led by researchers at the National Human Genome Research Institute has discovered the gene mutation that causes CMAMMA. The study is published in the August 14, 2011 advance online issue of the journal Nature Genetics.

NHGRI researchers identify gene for inherited bleeding disorder

Sun, 17 Jul 2011 04:00:00 GMT

An eight-year gene hunt has culminated successfully for National Human Genome Research Institute researchers studying the inherited bleeding disorder gray platelet syndrome (GPS). The researchers found that mutations in the NBEAL2 gene cause GPS. The study was published in the July 17, 2011, early online issue of Nature Genetics.

Paul Liu Named NHGRI Deputy Scientific Director

Tue, 05 Jul 2011 04:00:00 GMT

P. Paul Liu, M.D., Ph.D., a tenured senior investigator who joined the National Institutes of Health in 1993, has been named deputy scientific director of the National Human Genome Research Institute. He will help provide scientific and administrative leadership in the Institute's Division of Intramural Research..

Researchers identify potential treatment for the lethal premature aging disorder progeria

Wed, 29 Jun 2011 04:00:00 GMT

Researchers from the National Human Genome Research Institute (NHGRI) at the National Institutes of Health, the University of Maryland and Massachusetts General Hospital have shown that cells from patients with the rare premature aging condition Hutchinson-Gilford progeria respond to treatment with the antibiotic rapamycin. The results of the study could lead to a potential therapy for the lethal genetic condition and advance biological understanding of the normal aging process.

Researchers identify key to molecular signals in disease affecting Mediterranean populations

Tue, 31 May 2011 04:00:00 GMT

National Institutes of Health researchers studying familial Mediterranean fever (FMF) have discovered a novel pathway triggering inflammation in these patients. These findings provide fundamental insights into the innate immune system, the body's first line of defense against infection, and may improve treatment options for patients with FMF and other inflammatory conditions. The study was released in the May 19, 2011, early online edition of Immunity.

NHGRI Scientific Director Daniel Kastner is inducted into the National Academy of Sciences

Mon, 02 May 2011 04:00:00 GMT

On April 30, NHGRI Scientific Director Daniel Kastner, M.D., Ph.D., was inducted as a member of the National Academy of Sciences (NAS) at a ceremony in Baltimore. NAS is an elite body of approximately 2,100 distinguished U.S. scientists and engineers who advise the federal government on science and technology.

Parents favor genetic tests that might detect children's susceptibility to common diseases

Mon, 18 Apr 2011 04:00:00 GMT

Parents are generally willing to allow genetic testing to determine their children's susceptibility to eight, adult-onset health conditions, according to new study published in the April 18, online edition of the journal Pediatrics. NHGRI's Social and Behavioral Research Branch Chief Dr. Colleen McBride is the paper's senior author.

In Mouse Study, NIH Investigators Observe the Immune-Boosting Properties of Vitamin A

Thu, 07 Apr 2011 04:00:00 GMT

A new study in which National Human Genome Research Institute researchers collaborated with colleagues from the National Institute of Allergy and Infectious Disease helps shed light on how vitamin A regulates the immune system at mucosal surfaces — the moist linings of the mouth, lungs and gastrointestinal track.

Symposium ushers in NIH-Lasker Clinical Research Scholars Program

Mon, 04 Apr 2011 04:00:00 GMT

The dual role of the physician-scientist is part biomedical research and part clinical care. To nurture this training tradition, the National Institutes of Health (NIH) has established the NIH-Lasker Clinical Research Scholars Program. A symposium to kick off the program, featuring talks by four exemplars of the physician-scientist experience, took place March 31 in the Masur Auditorium on NIH's Bethesda campus.

NHGRI Researchers Win AAAS Prize for Neanderthal Genome Analysis

Mon, 21 Feb 2011 05:00:00 GMT

On February 19, two researchers from the National Human Genome Research Institute (NHGRI), along with members of the Neanderthal Genome Analysis Project, won the Newcomb Cleveland Prize from the American Association for the Advancement of Science (AAAS) for the article, A Draft Sequence of the Neandertal Genome.

NHGRI's William Gahl Honored with Top Governmental Service Award

Mon, 14 Feb 2011 05:00:00 GMT

On Feb. 9, William A. Gahl, M.D., Ph.D., clinical director of the National Human Genome Research Institute (NHGRI), received the American Medical Association's (AMA) Dr. Nathan Davis Award for Outstanding Government Service for his work establishing the National Institutes of Health Undiagnosed Diseases Program, a trans-NIH initiative that aims to provide diagnoses to patients with mysterious medical conditions. Dr. Gahl accepted the award on behalf of the thousands of patients with rare and undiagnosed disorders.

NIH and Wellcome Trust Launch H3Africa.org

Mon, 24 Jan 2011 05:00:00 GMT

Scientists at African medical research institutions are collaborating with a new initiative called Human Heredity and Health in Africa - or H3Africa - to advance African capacity and expertise in genomic science. H3Africa, announced in June 2010, is organized and supported by the National Institutes of Health (NIH) and the Wellcome Trust, a global charity based in London. Now, H3Africa organizers have launched a new website to serve as a repository for research resources and information about H3Africa.

Penetrating Spider Bites and Neuropsychiatric Insights

Mon, 10 Jan 2011 05:00:00 GMT

The female black widow spider is notorious for both her venomous bite and her reputation for using it on her own partner after mating. That venom, containing latrotoxin, places the black widow at the center of a fascinating web - one connecting this neurotoxin to attention deficit hyperactivity disorder (ADHD).

NHGRI Researchers Achieve Successful Gene Therapy in Mice

Fri, 03 Dec 2010 05:00:00 GMT

Propionic acidemia, a potentially fatal metabolic disorder that affects as many as one in 50,000 American babies, can be treated in mice using gene therapy, according to a National Human Genome Research Institute (NHGRI) study published in the October 2010 advance online issue of Human Gene Therapy.

NIH researchers identify genetic cause of anemia disorder

Mon, 22 Nov 2010 05:00:00 GMT

One of the most common types of familial anemia, hereditary spherocytosis (HS), is caused by a defect in a gene's barrier insulator, a DNA element that keeps a gene's switch in the 'on' position. A team led by researchers at the National Human Genome Research Institute (NHGRI) and Yale University School of Medicine report on their findings in the early online issue of the Nov. 22, 2010, Journal of Clinical Investigation.

New Genetic Findings Explain Some Obesity Risk and Body Types

Sun, 10 Oct 2010 04:00:00 GMT

An international team of scientists, including researchers from NHGRI's Genome Technology Branch, have identified 13 regions of genetic variation associated with body fat distribution, and 18 regions of genetic variation associated with increased susceptibility to obesity.

Exploring the Human Microbiome to Improve Care for Patients with Eczema and Skin Infections

Tue, 07 Sep 2010 04:00:00 GMT

About 15 percent of infants and children and 2 percent of adults experience the red, itchy patches of skin caused by atopic dermatitis, or eczema. Dermatologists have a number of treatments to offer, but a study to sequence and analyze the genomes of the colonies of bacteria residing on human skin aims to take the guesswork out of which treatment is optimal for different patients.

Diversity of Canine Traits Attributed to Simple Genetic Architecture

Tue, 10 Aug 2010 04:00:00 GMT

The domestic dog (Canis familiaris) diverged from the gray wolf on the canine family tree more than 15,000 years ago. Today, due to selective breeding by humans, dogs exhibit an extremely wide range of body types and canine behaviors. Now, a national team that includes researchers from the National Human Genome Research Institute's Cancer Genetics Branch, has found that a surprisingly simple genetic architecture underlies the great variation in domestic dogs. The study appears in the August 10, 2010 issue of PLoS Biology.

The Alaskan Sled Dog — A Genetic Breed Apart

Thu, 22 Jul 2010 04:00:00 GMT

Heather Huson has applied a passion for sled dogs to her genetics research with NHGRI's Cancer Genetics Branch. Now, NHGRI graduate student Huson is the lead author of a study on the genetic origins of sled dogs, published in the July 22, 2010 online issue of the BioMed Central's open access journal BMC Genetics.

NHGRI Genetic Development Researchers Find Trigger for Cell's Internal Compass

Mon, 28 Jun 2010 04:00:00 GMT

Developmental geneticists find that the planar cell polarity signaling pathway is a key mechanism for the placement of organs and other structures on either side of the body. Their study of left-right asymmetry in vertebrate development, and the role of planar cell polarity in initiating it, appeared in the June 20, 2010 early online edition of the journal Nature.

Multiplex Initiative Showcases Outcomes of Genetic Test Study at Detroit Symposium

Tue, 01 Jun 2010 04:00:00 GMT

A team of researchers that included National Human Genome Research Institute investigators convened in Detroit on May 27 to present data and analysis from a study of how healthy, young people use genetic risk-susceptibility tests. The one-day symposium, entitled The Multiplex Initiative: Implications for Personalized Medicine, dealt with a range of provocative issues.

NHGRI Investigator Wins ASGCT Outstanding New Investigator Award

Sat, 01 May 2010 04:00:00 GMT

The American Society of Gene & Cell Therapy awards Charles P. Venditti, M.D., Ph.D., its 2010 Outstanding New Investigator Award for his work in the still evolving field of human gene therapy. He will receive the award on May 20, 2010 during the ASGCT's annual meeting in Washington, D.C.

Mice Study Reveals A Mystery of The Developing Brain

Thu, 01 Apr 2010 04:00:00 GMT

A congenital defect called microcephaly causes small brain size and varying degrees of mental impairment in humans and animals alike. NHGRI researchers, and others, recently identified a gene in mice that can cause this developmental brain disorder when inactivated. The study was published in the April 4, 2010, early online edition of the journal Nature Neuroscience

Genetic Variant Greatly Increases Lung Cancer Risk for Light, Non-Smokers

Mon, 01 Mar 2010 05:00:00 GMT

NIH researchers and collaborators on a major, genetic epidemiology study of lung cancer, have identified a genetic variant that greatly increases the risk of disease for individuals who inherit it, even if they have never smoked or are light smokers. The finding suggests that any level of tobacco exposure increases susceptibility for lung cancer in this group, underscoring the dangers from any type of cigarette smoke exposure. The study is published in the March 9, 2010 early online issue of the journal Cancer Research.

Researchers Identify Gene Associated with ADHD Susceptibility

Mon, 01 Feb 2010 05:00:00 GMT

An international team led by researchers from the National Human Genome Research Institute (NHGRI) has discovered that certain variants in the Latrophilin 3 gene (LPHN3) act as a trigger for attention deficit hyperactivity disorder (ADHD).