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President's bioethics commission releases report on genomics and privacy

Genomics and privacy are the focus of a new report released today by the Presidential Commission for the Study of Bioethical Issues. The report, which includes a dozen recommendations, concludes that individual interests in privacy must be respected and secured to realize the enormous promise that whole genome sequencing holds for advancing clinical care. Read more

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FDA approves crystal-dissolving eye drops, a major milestone for NIH rare disease researchers

Read the heroic story of how an experimental eye-drop solution containing a drug called cysteamine eliminates 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.
Read more

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Genome Advance of the Month

Whole genome sequencing used to track infection's transmission path

Using whole bacterial genome sequencing to trace the transmission of a hospital-acquired infection is this month's Genome Advance of the Month, a potentially important breakthrough for hospital epidemiology. Read more

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Sequencing in cohort studies workshop video now available

On June 28-29, 2012, the National Human Genome Research Institute (NHGRI), sponsored a trans-NIH workshop - Sequencing in Cohort Studies and Large Sample Collections - at the National Institutes of Health in Bethesda, Md. Teri Manolio, M.D., Ph.D., NHGRI, and Eric Boerwinkle, Ph.D., University of Texas Health Science Center, co-chaired the workshop. Videos of the workshop are now available. Read more

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NIH launches new genetics education resource

High school students, teachers and anyone else interested in genetics now have a remarkable educational resource called GeneEd. Developed by the National Library of Medicine in collaboration with the National Human Genome Research Institute, GeneEd explores topics such as cell biology, DNA, genes and chromosomes. Read more

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Horror Autoinflammaticus: Adventures in the Genomics of Inflammation

On September 7, NHGRI Scientific Director Daniel Kastner, M.D., Ph.D., presented the first lecture in the Genomics in Medicine Lecture series at Suburban Hospital in Bethesda, Md., describing the clinical features of autoinflammatory diseases. Video of that lecture is available now.
Watch the video
Read more: The Genomics in Medicine Lecture Series

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Implicating Sequence Variants in Human Disease

Watch the Sept. 13, 2012 meeting from NHGRI's Office of Population Genomics: Implicating Sequence Variants in Human Disease. Workshop participants discuss guideline development for investigators, reviewers and editors to use to assess the evidence implicating sequence variants or genes in a specific disease.
Read more
Full playlist

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Dr. Eric Green announces reorganization

At the National Advisory Council for Human Genome Research 66th meeting on Sept. 10, Dr. Eric Green, NHGRI director, announced the approved reorganization of NHGRI. NHGRI will restructure into seven divisions to better achieve its strategic vision, effective Oct. 1, 2012. Watch the video
Read the news release

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National Advisory Council for Human Genome Research meets in open session

NHGRI convened the 66th meeting of the National Advisory Council for Human Genome Research (NACHGR) on Monday, Sept. 10. A sequencing data central resource, family history and clinical care, and a news announcement about the NHGRI reorganization were among the topics. Videos are now available. Go to the agenda

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ENCODE data describes function of the human genome

After a multi-year, concerted effort comprised of more than 440 researchers in 32 labs around the world, researchers have produced a dynamic picture of how the human genome actually does its job. Called ENCODE, the project links 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. The findings are reported in two papers appearing in the Sept. 5 online issue of Nature. Read more

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CIDR quenches scientists' thirst for high quality genotyping and sequencing services

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. Read more

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Genome Advance of the Month

A Genetic Fountain of Youth?

This month's Genome Advance of the Month compares newborns and centenarians to see if epigenetic changes - or alterations in the signals on the genes rather than the genes themselves - could be associated with aging. Is this the genetic Fountatin of Youth? Read more

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Genomics in Medicine Lecture Series resumes

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

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Tracking infectious outbreaks by their genomes

Last year, the NIH Clinical Center dealt with an outbreak of antibiotic resistant Klebsiella pneumoniae. Read how NHGRI Senior Investigator Julie Segre and the NIH Clinical Center's deputy hospital epidemiologist Tara Palmore, M.D., added genome sequencing to aggressive infection control to identify unexpected modes of transmission and help discover how the microbe spread. The report is published in the August 22, 2012 online edition of Science Translational Medicine. Read more

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Dog genomes open window on human ills

Distinct breeds of dogs often suffer from distinct diseases, NHGRI cancer branch chief Elaine A. Ostrander, Ph.D., explains in a review article in the Aug. 16, 2012, issue of The New England Journal of Medicine. Breeding makes it somewhat easier to find disease-associated variation in dog genomes and that can help point to similar disease-associated changes in the human genome. Read more

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The Genomics of Microbes and Microbiomes

Julie Segre, Ph.D., a senior investigator in NHGRI's Genetics and Molecular Biology Branch, presented the Genomics of Microbes and Microbiomes for the 13th and final Current Topics in Genome Analysis lecture. View the lecture video here from the series that covers the major topics in genomics and bioinformatics, sponsored by NHGRI's Division of Intramural Research.
Watch the lecture
Read more about the CTGA lectures

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NHGRI launches new Digital Media Database

NHGRI's brand new, Digital Media Database is full of downloadable high-resolution photographs, graphics and video files related to the field of genomic research. These public domain images represent more than two decades of institute research, including photos of animals sequenced to help understand the human genome, as well as images of the people and technologies dedicated to genomic research.
Search the new Digital Media Database

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Video now available for meeting on whole genome sequencing privacy and confidentiality.

Whole genome sequencing (WGS) - where researchers and clinicians read the entire DNA sequence of a person's genetic material using a DNA sample - raises privacy and confidentiality concerns. A recent Presidential Commission for the Study of Bioethical Issues meeting on WGS, including a talk by Laura Lyman Rodriguez, Ph.D., NHGRI's Office of Policy, Communications and Education director, is available on video here: View meeting videos

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NIH streamlines request process for aggregate genomic data

NIH has created a new mechanism to streamline requests for aggregate genomic datasets. Now investigators can make a single request for controlled access to 14 aggregate datasets for general research use, a process that will enhance access to aggregate genomic data while maintaining research participant protections. Read 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 is published online today, July 30, 2012, in the journal Brain. Read more

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Request for comments on a new genomic nursing research agenda

The Genomic Nursing State of the Science Initiative Advisory Panel has recommended a draft genomics nursing research agenda and advised solicitation of public comment on the draft research priorities.
Read more
Go directly to comment page

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The Genetics of Melanoma: Searching for New Therapeutic Targets

Video is now available for the May 23, NIH Clinical Center Grand Rounds lecture The Genetics of Melanoma: Searching for New Therapeutic Targets, presented by NHGRI Cancer Genetics Branch Investigator Yardena Samuels, Ph.D.
Watch the video

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June Genome Advance of the Month

The Human Microbiome Project: Extending the definition of what constitutes a human

The June Genome Advance of the Month discusses how Human Microbiome research is demonstrating that the microbiome - the normal bacteria that live in and on us - is a major genetic signal in humans, contributing key properties essential to human function. Learn how these bacteria are not invaders but beneficial colonizers who ultimately care for our health. Read more

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Genomics in Maternal Child Health

On June 1, Barbara Biesecker, Ph.D., an associate investigator in NHGRI's Social and Behavioral Research Branch, presented Genomics in Maternal Child Health, exploring the implications of diagnostic prenatal testing. The lecture was part of the Genomics in Medicine lecture series NHGRI sponsors with Suburban Hospital and the Johns Hopkins University. Video of that lecture is now available.
Watch the video

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May Genome Advance of the Month

Researchers view DNA through 3D lens

The May Genome Advance of the Month explores two studies - one uncovering a functional role of DNA in chronic pain and another manipulating DNA to form useful shapes - both advances that translate 2D data into 3D thinking that may improve our 4D lives. Read more

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The heart of the matter: genomics and cardiovascular disease

Please join NHGRI for a "genomics and cardiovascular disease" lecture by Les Biesecker, M.D., Genetic Disease Research Branch. The July 13 lecture at Suburban Hospital in Bethesda, Md., focuses on the genetically distinct components of cardiovascular disease and how genomic diagnostic approaches can provide individualized patient treatment. Read more

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Insights from the modENCODE Project

Video is now available of the NHGRI special symposium, Genomics of model organisms and human biology: Insights from the modENCODE Project, held at NIH in June. The symposium celebrated the project's accomplishments, showcased modENCODE findings, and highlighted how model organisms increase our understanding of the biology of organisms, fundamental biological processes, and human health and disease. Read 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 NHGRI unlock secrets about how the body fights infection. Studying a mouse model of an inherited disease called X-linked lymphoproliferative syndrome (XLP), they've discovered new details about how a missing protein can disrupt communication between two types of white blood cells that play key roles in immunity. Read 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. Read more

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Establishing a Central Resource of Data from Genome Sequencing Projects

On June 5-6, 2012, the National Human Genome Research Institute participated in a National Institutes of Health workshop Establishing a Central Resource of Data from Genome Sequencing Projects at the Hilton Washington D.C./Rockville Hotel in Rockville, Md. The workshop addressed the challenges to aggregating and analyzing data sets from genome sequencing studies.
See videos of the full workshop

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