Highlights Archive

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Highlights Archive

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HHS announces proposal to update rules governing research on study participant

National Archives and Records Administration 195 (Logo) Medical advances wouldn't be possible without individuals willing to volunteer to participate in research. Today's proposed changes to the Common Rule for protecting human research participants would update safeguards for participants and reduce unnecessary administrative burdens. For more information and details on providing comments on the proposed rule, go to:
HHS News Release
Read the Notice of Proposed Rulemaking [federalregister.gov]

Posted: September 02, 2015  

Genome Advance of the Month
Deaf mouse with gene therapy for Tmc1 mutations

Gene Therapy and the Biological Treatment of Hearing Loss

July's Genome Advance of the Month highlights a study in the journal Science Translational Medicine that demonstrated gene therapy as an effective way to improve hearing in patients with two genes linked to genetic prelingual deafness, or hearing loss that occurs before a child learns to speak. Read more

Posted: August 31, 2015  

Video now available
ENCODE

ENCODE 2015: Research Applications and Users Meeting

On June 29 - July 1, 2015, NHGRI sponsored the ENCODE 2015: Research Applications and Users Meeting at the Bolger Center in Potomac, Md. The meeting featured: hands-on workshops on learning to navigate, analyze and integrate ENCODE and mouseENCODE data into your research; leading-edge research applications from distinguished invited speakers; tutorials on newly-available informatics pipelines that greatly facilitate working with ENCODE data and more.
Video for this event is now available

Posted: August 21, 2015  

Video now available

Intramural trainees represent NHGRI at 2015 plain language competition

Melissa Harris (left), Gustavo Sudre NHGRI intramural trainees and representatives from other NIH institutes recently participated in a high-energy science communications contest called the Three-minute Talk (TmT). Five NHGRI intramural trainees competed as finalists, taking on the challenge to use plain language and one PowerPoint slide to explain their research in three-minutes or less. Talks by Dr. Gustavo Sudre (right) and Dr. Melissa Harris placed second and third. Read more

Posted: August 12, 2015  

The Genomics Landscape

Centers for Mendelian Genomics Program

Eric Green In this month's Genomics Landscape, Dr. Green features the Centers for Mendelian Genomics Program, a report from the Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, the NIH Strategic Planning Request for Information, and the Genome: Unlocking Life's Code Exhibition traveling to St. Louis, along with other information items of interest. Read more

Posted: August 07, 2015  

Centers for Mendelian Genomics uncovering the genomic basis of hundreds of rare conditions

Pedigree, DNA double helix, letters of A G T C When the Centers for Mendelian Genomics (CMGs) program was launched nearly four years ago, it was charged with the ambitious task of identifying the genomic underpinnings of as many Mendelian conditions as possible. CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions, while also uncovering new, previously unknown conditions and learning important details about the development of many others that scientists had described before. Read more

Posted: August 06, 2015  

Genome Advance of the Month

Gene-disease association data could improve drug development

 Drug development is a risky business. More than half of candidate drugs that look promising in the research lab will ultimately fail. More than a quarter of drugs that reach the clinical trial stage will be rejected as ineffective. June's Genome Advance of the Month focuses on how drug development success rates could be improved by using known genetic associations to help choose research targets. Read more

Posted: July 30, 2015  

Studying cancer from the inside out: What the epigenetic code can tell doctors about disease

 How tumors differ from each other - either in different organs or within the same organ - can yield useful clues about cancer prognosis and treatment. Ultimately, that knowledge may lead to precision medicine, where a doctor is not just treating a tumor, but tailoring treatment to the patient's specific tumor. A massive new analysis of tumors, published online April 17 in Epigenetics & Chromatin, is leading medicine closer to these goals. Read more

Posted: July 24, 2015  

Video now available

Opportunities and Challenges for Health Disparities Research in the Personal Genome Era

Carlos Bustamante On May 27, Dr. Carlos Bustamante, professor of genetics at Stanford University School of Medicine and co-founding director of the Stanford Center for Computational, Human, and Evolutionary Genomics, was the inaugural speaker for the Genomics and Health Disparities Lecture Series. The NHGRI co-sponsored series seeks to enhance dialogue about how innovations in genomics research and technology can impact health disparities. Watch video

Posted: July 16, 2015  

The Genomics Landscape

The Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training Program

Eric Green In this month's The Genomics Landscape, Dr. Green features a well-established joint program with Johns Hopkins University that trains genetic counselors, a recent report to the NIH Director on the future of the National Library of Medicine, and news from NHGRI activities related to coordinating provider education in genomics and international genomic medicine efforts, along with other information items that of interest. Read more

Posted: July 07, 2015  

GM8: Looking across genomic medicine's gaps and opportunities

Group photo of leaders who attended the two-day Genomic Medicine 8 meeting. On June 8-9, international experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by the National Human Genome Research Institute (NHGRI) in Rockville, Maryland. Speakers discussed topics ranging from interpreting genomic variants and handling genomic data, to diversity in research populations. Read more

Posted: July 06, 2015  

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Posted: July 03, 2015  

LabGenius: The next step toward a digital laboratory

LabGenius The HHS Ignite Accelerator program, inspired by Silicon Valley start-up methods, nurtures innovative ideas that might improve government operations. Now this seed funding and mentorship program could help create a digital "LabGenius" and, according to NIH Director Francis Collins, M.D., Ph.D., "has the potential to streamline our labs ... which could have a big impact." Read more

Posted: June 29, 2015  

New NHGRI brochure highlights major genomics research areas

NHGRI brochure cover A new brochure from the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), spotlights the Institute's past, present and future roles in the field of genomics. In the Director's Message, NHGRI Director Eric Green, M.D., Ph.D., frames the field as "one of the most vibrant, compelling and relevant scientific disciplines of the 21st century." The document traces NHGRI's history from serving as the leader of the U.S. component of the Human Genome Project to its current focus on advancing human health through genomics research.
Read more

Posted: June 26, 2015  

Genomics holds promise of treatments for inherited blindness

Retina with double helix Millions of people worldwide suffer from diseases of the retina that cause partial or complete blindness. While there is no cure for retinal degenerative disease, there are several promising areas of research that aim to, at least, partially restore vision. May's Genome Advance of the Month focuses on two experimental therapeutic approaches - gene replacement therapy and optogenetics. Read more

Posted: June 26, 2015  

Peering at brain and skin cancers through a genomic lens

TCGA logo A pair of studies from The Cancer Genome Atlas (TCGA) Research Network has provided new insight into the genomics of brain and skin cancer. The findings point to new ways of classifying these cancers that should lead to smarter ways to predict disease behavior and better decisions about treatment. The results were reported in the June 18, online edition of Cell and the June 10 online issue of the New England Journal of Medicine. Read more

Posted: June 24, 2015  

Happy Father's Day from NHGRI

Y Chromosome From NHGRI to you: For Father's Day, learn about the Y chromosome - the chromosome shared by all boys and men - that was passed down from a single male ancestor who lived over 100,000 years ago! Learn 11 neat facts about the Y chromosome from our special infographic. Read more

Posted: June 19, 2015  

Video now available

The Cancer Genome Atlas Fourth Annual Scientific Symposium

DNA double helix and two researchers In May, the Cancer Genome Atlas (TCGA) held its fourth annual scientific symposium at Natcher Conference Center, NIH. The symposium was offered collaborative workshops, poster sessions and plenary presentations where investigators from around the world shared their novel biological discoveries, analytical methods and translational approaches using TCGA data. Video and slides are now available.
View agenda and videos

Posted: June 15, 2015  

Stanford researchers suss out cancer mutations in genome's dark spots

Michael Snyder. Photo Credit: Stanford University Stanford University researchers combined genome sequence data from The Cancer Genome Atlas (TCGA) with data from regulatory regions from the Encyclopedia of DNA Elements (ENCODE) to identify mutations affecting gene activity in cancer. The NHGRI-supported research, published in the June 8th issue of Nature Genetics, suggests that mutations in genome regions that control gene activity may play a significant role in cancer. Read more

Posted: June 09, 2015  

Video now available

Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio

GM8 Genomic Medicine Meeting VIII June 8-9, 2015 On June 8-9, 2015, NHGRI sponsored its eighth Genomic Medicine meeting - Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio - at the Hilton Washington D.C./Rockville Hotel & Executive Meeting Center in Rockville, Md. The meeting convened leadership from NHGRI's genomic medicine programs and representatives from other NIH Institutes and Centers (ICs) and external groups.
View agenda and videos

Posted: June 05, 2015  

NIH researchers pilot predictive medicine in study of healthy people's DNA

An NIH study has turned genomics research on its head. Instead of searching for a mutation in the genomic sequence of a person with a genetic disease, researchers sequenced the genomes of healthy participants and analyzed the data to find presumed mutations that would almost certainly lead to a genetic condition. Results were published today in the American Journal of Human Genetics.
Read more

Posted: June 04, 2015  

International collaboration aims to speed development of genomic medicine

Group photo of meeting participants Translational genomic medicine research - the effort to turn genomic discoveries into tools and therapies - is going global. After an international symposium last year called "Global Leaders in Genomic Medicine," top genome scientists from over 20 countries have now joined forces to improve cooperation and coordination of genomic medicine research worldwide. A summary of the symposium is now available in the June 3, 2015, issue of Science Translational Medicine. Read more

Posted: June 03, 2015  

The Genomics Landscape

Genotype-Tissue Expression (GTEx) Project Reports Research Results

Eric Green In this month's The Genomics Landscape, NHGRI Director Eric Green, M.D., Ph.D., highlights the recent publications from the Genotype-Tissue Expression (GTEx) Project along with news from ClinGen, LabTV and an update on the Precision Medicine Initiative.
Read more

Posted: June 02, 2015  

Genome Advance of the Month

Scientists discover insights into the effect of sun exposure on skin

Sun and human skin Soaking up the sun may be positive while on vacation, but the effect on our skin often isn't kind, especially as we grow older. A study by Johns Hopkins' scientists, featured in April's Genome Advance of the Month, reveals the genomic information they found after comparing sun-exposed and sun-protected skin in younger and older individuals, and how skin changes with sun exposure and aging. Read more

Posted: June 01, 2015  

DNA double helix with data

ClinGen setting standards for when genes and their variants matter in disease

In the May 27, 2015, online New England Journal of Medicine, investigators with the National Institutes of Health's Clinical Genome Resource (ClinGen) describe how the program is evaluating the clinical relevance of genomic variants for use in precision medicine and research. ClinGen, launched in 2013, is funded in part by NHGRI. Read more

Posted: May 27, 2015  

NHGRI's Elizabeth Burke finds way to Undiagnosed Diseases Program

Elizabeth Burke Elizabeth Burke, Ph.D., a postdoctoral fellow in NIH/NHGRI's Undiagnosed Diseases Program, describes how she helps answer the question "why?" for people who have longstanding medical conditions but lack a diagnosis. She talks about how it's become "the most fascinating and inspiring job" she could ever have.
Read more

Posted: May 26, 2015  

Video now available
Council members

Advisory Council meets in open session

Did you miss the seventy-fourth meeting of the National Advisory Council for Human Genome Research? See video of the full meeting held May 18, 2015 at Fishers Lane Conference Center. NHGRI Director Eric Green gave his report to council, which was followed by talks on ENCODE, the Clinical Sequencing Exploratory Research Consortium, functional genomics and ClinSeq.
View all videos now

Posted: May 14, 2015  

Zambian Deputy Health Minister Chitalu Chilufya (left) welcomes members of the H3Africa Consortium on May 9, 2015, in Livingstone, Zambia.

Zambian Deputy Minister of Health welcomes members of the H3Africa Consortium

Chitalu Chilufya, Zambian Deputy Minister of Health (pictured left), welcomed members of the H3Africa Consortium to the Sixth H3Africa Consortium meeting. Also present at the meeting: NHGRI Director Eric Green, NHGRI staff, Wellcome-Trust staff and members of the H3Africa Consortium. Read More

Posted: May 11, 2015  

Virtual reality in action

Genomic knowledge is power in the fight against obesity

Although many doctors are wary about discussing weight loss with their overweight patients - for fear of alienating the patients or being ignored - two recent research studies from a team led by NHGRI's Susan Persky, Ph.D., suggest that doctor-patient talks about the genomic underpinnings of obesity can pay off.
Read more

Posted: May 07, 2015  

The Genomics Landscape
NHGRI Director Eric Green, M.D., Ph.D.

Genome-Wide Association Studies Catalog

In this month's The Genomics Landscape, I discuss the NHGRI-EBI Genome-Wide Association Studies Catalog, which was started at NHGRI and is now housed at the European Bioinformatics Institute (EBI) in the United Kingdom. There's also news about G2C2, Genome Unlocking Life's Code and an NHGRI Staff visit to NASA! Read more

Posted: May 05, 2015  

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