Read the heroic story about how an experimental eye-drop solution containing a drug called cysteamine eliminates the the painful and destructive crystalline shards in the eyes of patients suffering from a rare, inherited condition called nephropathic cystinosis. Learn how the eyedrop went from clinical trial, to FDA approval and availability for use on Oct. 3, 2012, The research was spearheaded by NHGRI Clinical Director, William Gahl, M.D., Ph.D. (more)

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The Center for Inherited Disease Research (CIDR) provides billions of high-quality genotypes and DNA sequences by the gigabase to help investigators identify genes that contribute to human health and disease. CIDR recently celebrated its 15-year anniversary with a $101 million, five-year renewal contract. Learn more about this NHGRI-managed program. (more)

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On September 7, NHGRI scientific director and inflammatory disease expert Dan Kastner, M.D., begins the 2012-2013 Genomics in Medicine Lecture Series with Horror Autoinflammaticus: Adventures in the Genomics of Inflammationas. The monthly series, begun in December 2011, aims to enhance how we understand the intersection between genomics and medicine. (more)

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Last year, the NIH Clinical Center dealt with an outbreak of antibiotic resistant . Read the full story of how NHGRI and genome sequencing helped discover how the microbe had spread and identified unexpected modes of transmission. The report is published in the August 22, 2012 online edition of Science Translational Medicine. (more)

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NIH researchers use brain imaging to understand a genetic link between Parkinson's and a rare disease

A rare metabolic disorder is helping researchers at the National Human Genome Research Institute (NHGRI) and the National Institute of Mental Health (NIMH) uncover new clues about the biology underlying Parkinson's disease. The results of their six-year study, published online in the July 30, 2012, issue of the journal Brain, may explain how people with alterations in the gene involved in Gaucher disease are more likely to develop Parkinson's — and provide a window to potential inner workings of Parkinson's itself. (more)

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NHGRI finds "off" switch that underlies rare genetic disease affecting boys

A rare, genetic disease found only in boys is helping researchers at the National Human Genome Research Institute (NHGRI) unlock secrets about how the body fends off infection. Studying a mouse model of an inherited disease called X-linked lymphoproliferative syndrome (XLP), they have discovered new details explaining how a missing protein can disrupt communication between two important types of white blood cells, T and B cells, which play key roles in immunity. (more)

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NHGRI researchers find susceptibility mutations in patients with no cancer history

NHGRI researchers report in the American Journal of Human Genetics that gene variants in a patient's DNA that are classified as incidental or secondary gene variants are medically important. They identified cancer susceptibility mutations in DNA sequence collected as part of an NIH study called ClinSeq^tm. (more)

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

The baby seems normal at birth, but as he or she starts to eat the vomiting begins. Other symptoms might include dehydration, panting, lethargy, failure to thriveand then it gets really bad: seizures, encephalopathy and stroke. If the disease isn't picked up by a newborn screening test - usually a heel stick that produces a drop of blood for testing up to 40 disorders - terrified parents present their deteriorating baby for answers. (more)

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High-throughput screening finds surprising properties for antioxidants

Antioxidants have long been thought to have anti-aging properties. The story now appears to be much more complicated. A National Institutes of Health research team has demonstrated that some anti-oxidants damage DNA, yet may be good for treating cancer. The findings are published today, March 19th, in the Proceedings of the National Academy of Sciences (more)

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

Researchers have published 852 studies describing the genomes of 23 different cancers over the past half century and a number of things have become clear. Though every cancer is different, tumors tend to have a very similar number of gene mutations, Bert Vogelstein, M.D., told a National Institutes of Health (NIH) audience of more than 500 attending the 10th annual Jeffrey M. Trent Lectureship in Cancer Research on Feb. 29, 2012. (more)

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Researchers use genomics to differentiate two ovarian cancer subtypes

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. (more)

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

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. (more)

NHGRI supports seven young investigators on research career paths

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. (more)

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

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. (more)

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NIH researchers achieve better understanding of skin cancer

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. (more)

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William Gahl honored with prestigious Service to America Medal

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. (more)

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

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. (more)

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NHGRI researchers serve up mysterious disease diagnosis - three ways

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. (more)

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NHGRI researchers identify gene for inherited bleeding disorder

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. (more)

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Paul Liu Named NHGRI Deputy Scientific Director

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.. (more)

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Researchers identify potential treatment for the lethal premature aging disorder progeria

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. (more)

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May 31, 2011: Researchers identify key to molecular signals in disease affecting Mediterranean populations

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. (more)

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May 2, 2011: NHGRI Scientific Director Daniel Kastner is inducted into the National Academy of Sciences

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. (more)

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April 18, 2011: Parents favor genetic tests that might detect children's susceptibility to common diseases

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. (more)

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April 7, 2011: In Mouse Study, NIH Investigators Observe the Immune-Boosting Properties of Vitamin A

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. (more)

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April 4, 2011: Symposium ushers in NIH-Lasker Clinical Research Scholars Program

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. (more)

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February 21, 2011: NHGRI Researchers Win AAAS Prize for Neanderthal Genome Analysis

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. (more)

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February 14, 2011: NHGRI's William Gahl Honored with Top Governmental Service Award

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. (more)

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January 24, 2011: NIH and Wellcome Trust Launch H3Africa.org

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. (more)

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January 10, 2011: Penetrating Spider Bites and Neuropsychiatric Insights

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). (more)

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December 2010: NHGRI Researchers Achieve Successful Gene Therapy in Mice

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. (more)

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November 2010: NIH researchers identify genetic cause of anemia disorder

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. (more)

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October 2010: New Genetic Findings Explain Some Obesity Risk and Body Types

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. (more)

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September 2010: Exploring the Human Microbiome to Improve Care for Patients with Eczema and Skin Infections

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.(more)

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August 2010: Diversity of Canine Traits Attributed to Simple Genetic Architecture

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.

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July 2010: The Alaskan Sled Dog — A Genetic Breed Apart

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. (more)

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June 2010: NHGRI Genetic Development Researchers Find Trigger for Cell's Internal Compass

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. (more)

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June 2010: Multiplex Initiative Showcases Outcomes of Genetic Test Study at Detroit Symposium

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.(more)

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May 2010: NHGRI Investigator Wins ASGCT Outstanding New Investigator Award

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. (more)

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April 2010: Mice Study Reveals A Mystery of The Developing Brain

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 (more)

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March 2010: Genetic Variant Greatly Increases Lung Cancer Risk for Light, Non-Smokers

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. (more)

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February 2010: Researchers Identify Gene Associated with ADHD Susceptibility

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). (more)

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November 2009: Researchers Analyze First Complete DNA Sequence Generated at National Institutes of Health

A group of more than a dozen gene hunter from the National Human Genome Research Institute recently gathered at the National Institutes of Health Intramural Sequencing Center in Rockville, Md. to analyze data from the first complete DNA sequence of an NIH Clinical Center patient enrolled in the ClinSeq^TM study, a trans-NIH effort to understand the genetic roots of coronary heart disease and the challenges of using genome sequencing tools for personalized health benefit in a clinical research setting. (more)

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November 2009: Taking Aim At Trypanosomes

The NIH Chemical Genomics Center (NCGC), administered by the National Human Genome Research Institute, is training its leading-edge technology on two ancient scourges: Chagas disease and African sleeping sickness. In two studies published Nov. 11 in the online edition of the Journal of Medicinal Chemistry, NCGC researchers, along with collaborators from the University of California-San Francisco, identified a group of compounds with the potential to inhibit parasitic Trypanosoma microbes and unveiled a public dataset that will aid the entire field of drug discovery. (more)

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October 2009: NHGRI Researchers Create New Database of Drug-Metabolizing Enzymes

In their quest to find new and better drugs, researchers weigh many factors. Among the most important factors is how a compound will interact with a family of liver enzymes, known as the cytochrome P450s (CYPs), that play an essential role in drug metabolism. (more)

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September 2009: Prepublication Data Sharing: The Toronto Statement

International experts have updated guidelines for the rapid release of genomics data and proposed extending the prepublication release principles to other biological data sets. Two NHGRI researchers are among the authors of an Opinion article about rapid data release published, now in the journal Nature.(more)

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April 2009: Novel Gene Found Critical for Regeneration in Zebrafish

NHGRI researchers have identified a gene that plays a crucial role in the ability of zebrafish to regenerate vibration-detecting hair cells, like those in the human inner ear. Named phoenix, the gene may help unlock the secrets of these amazing regenerative powers and the possibility of restoring human hearing and balance. (more)

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April 2009: Familial Lung Cancer Gene Located

A consortium that includes scientists from the National Human Genome Research Institute has identified a gene associated with an increased susceptibility for lung cancer in members of families with a history of the disease. The new finding is reported in the April 15, 2009 issue of the journal Clinical Cancer Research. (more)

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March 2009: NHGRI Research Helps to Demystify Dyslexia

Dyslexia is one of the world's most common learning disorders. NHGRI researchers are helping to open a new window on this complex condition with a new genomic discovery reported in the journal PLoS Genetics. (more)

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January 2009: Darwin @200

February 12, 2009, marks the 200th birthday of Charles Darwin (1809-1882) and the 150^th year since publication of his seminal work, On the Origin of Species. The National Human Genome Research Institute will observe Darwin's life and accomplishments at events at the NIH's Bethesda campus and at the Smithsonian Institution's National Museum of Natural History. (more)

December 2008: Two NHGRI Intramural Investigators Selected for Presidential Award

Two National Human Genome Research Institute (NHGRI) investigators — cancer geneticist Daphne W. Bell, Ph.D., investigator in the Cancer Genetics Branch, and bioinformatician Elliott Margulies, Ph.D., investigator in the Genome Technology Branch — have received the 2007 Presidential Early Career Award for Scientists and Engineers (PECASE). They are among 12 PECASE awardees supported by the National Institutes of Health (NIH) and the only NIH intramural investigators among this year's awardees. The awards were presented at a White House ceremony on Dec. 19, 2008. (more)

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November 2008: Chemical Genomics Screen Uncovers Clues to Fat Storage

In a study published in the Nov. 25, 2008 issue of PLoS Biology, a team from the National Institute of Diabetes and Digestive and Kidney Diseases, the University of Maryland, Baltimore, and the NIH Chemical Genomics Center — an affiliated center with NHGRI — identified a cellular pathway that regulates fat storage and showed that interrupting the pathway boosts the amount of fat stored by human cells. (more)

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May 2008: NHGRI Research Reveals Humans Share a Common Set of Skin Microbes

A team of researchers from the National Institutes of Health (NIH), led by Julie Segre, Ph.D., a senior investigator in the Genetics and Molecular Biology Branch at the National Human Genome Research Institute (NHGRI), has found that healthy humans share a common set of microorganisms living in and on the area of skin around the inner elbow, an area where atopic dermatitis (eczema) is known to develop, research published a study in the online issue of Genome Research. (more)

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April 2008: Dr. Pamela Schwartzberg Inducted into Association of American Physicions

Pamela Schwartzberg, M.D., Ph.D., senior investigator in the Genetic Disease Research Branch, is a 2008 inductee into the Association of American Physicians (AAP). She was inducted at the AAP's annual meeting in Chicago, April 25-27, 2008. (more)

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February 2008: Finding What's Toxic Fast

Chemical compounds — from household cleaners to pesticides — require testing to reveal hazards that they may pose to human health. An effort now underway by three collaborating federal research groups seeks to rapidly evaluate larger numbers of chemicals for risks to humans while reducing the role of laboratory animals in regulatory testing. (more)

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January 2008: Pam Schwartzberg Wins AAI Investigator Award

Pamela L. Schwartzberg, M.D., Ph.D., senior investigator and head of the Cell Signaling Section of the Genetic Disease Research Branch of the National Human Genome Research Institute (NHGRI), will receive the AAI-BD Biosciences Investigator Award from the American Association of Immunologists (AAI). (more)

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