Highlights Archive

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TCGA team wins Sammies' People's Choice award

NHGRI's Carolyn Hutter and NCI's Jean Claude Zenklusen NHGRI's Carolyn Hutter and NCI's Jean Claude Zenklusen, along with the entire Cancer Genome Atlas team, have won the Samuel J. Heyman Service to America Medal People's Choice Award. The team mapped thousands of gene sequences for more than thirty types of cancer, advancing precision medicine in the diagnosis, treatment and prevention of these deadly diseases. Read more

Posted: October 08, 2015   |  Comments (0)

The Genomics Landscape

25th Anniversary of the Launch of the Human Genome Project

Eric Green October's Genomics Landscape marks the 25th anniversary of the Human Genome Project launch, reflecting on how far genomics has progressed since 1990. Also this month, The Genomics Landscape celebrates its second birthday by continuing to provide noteworthy, interesting and vital genomics news. This issue highlights the Undiagnosed Diseases Network, genomic data sharing policy, functional variation grants, a new event for H3Africa and more. Read more

Posted: October 06, 2015  

Twenty-five Years of Big Biology

NHGRI Director Eric Green, M.D., Ph.D., reflects on the lasting legacy of the Human Genome Project 25 years after its start. Among HGP's far-reaching impacts: team science, data sharing and analysis, and technology development.
Watch the video interview
NHGRI Director Eric Green, M.D., Ph.D.
Read the Nature commentary
By Drs. Eric Green, James Watson
and Francis Collins

Posted: October 01, 2015  

NHGRI researchers to present talks, posters at ASHG annual meeting

A S H G 2015 October 6-10 Baltimore, MD National Human Genome Research Institute researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of the American Society of Human Genetics. More than 6,500 scientific attendees and 200 exhibitors are expected to attend the meeting from October 6-10, held this year at The Baltimore Convention Center. Read more

Posted: September 30, 2015  

Scientists create world's largest catalog of human genomic variation

1000 Genomes An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers powerful clues to why some people are susceptible to various diseases. Understanding how these differences - called genomic variants - contribute to disease may help clinicians develop improved diagnostics, treatments and prevention methods. The two studies were published online, Sept. 30, in Nature. Read more
Watch a video about the 1000 Genomes Project

Posted: September 30, 2015  

Genome Advance of the Month

Gene-editing technology uncovers genetic link to infertility

A pregnant woman's silhouette with DNA double helix and letters A T C G Infertility - difficulty getting or staying pregnant - can come at a high financial and emotional cost, affecting about 6 million women and 4 million men in the United States. Half of these cases could be due to genetic factors. Now, new research techniques are yielding insight into the genetics of infertility. The August Genome Advance of the Month looks at a study in the Proceedings of the National Academy of Sciences that addresses the complex genetics of infertility using genetic sleuthing and cutting-edge, gene-editing technology. Read more

Posted: September 29, 2015  

Integrating Genomic Sequencing into Clinical Care: CSER and Beyond

C S E R Clinical Sequencing Exploratory Research On September 28, 2015, NHGRI sponsored Integrating Genomic Sequencing into Clinical Care: CSER and Beyond at the DoubleTree Hilton in Bethesda, Md. The meeting addressed the scientific contributions of the Clinical Sequencing Exploratory Research (CSER) Program, discuss integration of genomic sequencing into clinical care and identify the framework of a potential follow-up program. Read the Agenda

Posted: September 25, 2015  

TCGA team a finalist for Sammies, People's Choice awards

Jean Claude Zenklusen and Carolyn Hutter The Cancer Genome Atlas (TCGA) team has mapped thousands of genomes for more than thirty types of cancer to improve the ability to diagnose, treat and prevent cancer. Led by NHGRI's Carolyn Hutter and NCI's Jean Claude Zenklusen, the TCGA team is not only a finalist for the Samuel J. Heyman Service to America Medals award (the "Sammies"), a contender for the inaugural People's Choice Award. People's Choice voting closes at 11:59 p.m. Eastern, Sept. 30, 2015. For more information about the Sammies and to vote, visit servicetoamericamedals.org/peoples-choice

Posted: September 21, 2015  

NHGRI welcomes 2015 ASHG/NHGRI education and public policy fellows

Cari Young (left) and Julie Nadel This fall, Cari Young, Sc.M., and Julie Nadel, Ph.D., will join the National Human Genome Research Institute (NHGRI) as American Society of Human Genetics (ASHG)/NHGRI education and public policy fellows. Ms. Young will spend time working with NHGRI's Policy and Program Analysis Branch, while Dr. Nadel will direct her talents to the Education and Community Involvement Branch. Both credit their high school biology classes with inspiring the direction of their careers. Read more

Posted: September 17, 2015  

Undiagnosed Diseases Network launches online application portal

UDN logo The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National Institutes of Health, has opened an online patient application portal called the UDN Gateway. Introduction of this application system sets the stage for the network to advance its core mission: to diagnose patients who suffer from conditions that even skilled physicians have been unable to diagnose despite extensive clinical investigation.
Read more

Posted: September 16, 2015  

Advisory council open session meets September 21st

Council members The open session for the seventy-fifth meeting of the National Advisory Council for Human Genome Research will meet Monday, September 21st, at Fishers Lane Conference Center. NHGRI Director Eric Green will report to council, followed by talks on Stevens-Johnson syndrome, precision medicine and a report from the Genomics and Society Working Group. The session will be broadcast live starting at 10 a.m. Eastern.
Read the agenda

Posted: September 15, 2015  

Who should decide? The Complex Ethics of Pediatric Genome Sequencing

Pediatrics A working group of the Clinical Sequencing Exploratory Research (CSER) Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies, interpreting results and disclosing findings. CSER was established to speed the integration of genomics into clinical practice and is funded by NHGRI and the National Cancer Institute, both part of NIH. The study was published today, Sept. 14, 2015, in the advanced online issue of Pediatrics. Read more

Posted: September 14, 2015  

An ancient tumor in dogs might teach new tricks about cancer in people

Dogs and cancer An ancient, sexually transmitted dog cancer has baffled researchers until now. Canine transmissible venereal tumor - CTVT - spreads when cancer cells move from one dog to another during sexual contact. By comparing the genomes of 186 healthy dogs to two dog tumor genomes, NHGRI researchers discovered genetic mutations that prevented the dogs' immune systems from detecting and fending off invading cancer cells. Findings were reported online in the July 31, 2015 edition of Genome Research. Read more

Posted: September 11, 2015  

The Genomics Landscape

The New NHGRI Brochure

Eric Green In this month's The Genomics Landscape, Dr. Green highlights the new NHGRI brochure, NHGRI's Summer Workshop in Genomics held this past August, the request for public comment on human subjects protections, and welcomes NHGRI's new chief of communications, John Ohab. Read more

Posted: September 08, 2015  

Investigating why cancer comes back

Leukemia cells, remission and relapse For a patient with cancer, two of the most important words in the oncologist's lexicon begin with the letter "r": remission and relapse. Why do some patients stay in remission, while others see their cancer return? In recent research published online in July in the journal Leukemia, Paul Liu, M.D., Ph.D., a senior investigator, and Raman Sood, Ph.D., an associate investigator, for the Translational and Functional Genomics Branch at NHGRI, are trying to understand why leukemia patients relapse, and if there are any DNA-level mutations that account for the leukemia coming back. Read more

Posted: September 08, 2015  

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 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  

NIH Strategic Plan determining emerging research needs

NIH Building 1 The National Institutes of Health (NIH) is developing a five-year, NIH-wide strategic plan to outline a vision for biomedical research and identify crosscutting areas of research. The plan aims to continue guiding NIH with its mission to understand living systems, while applying best practices to extend human life and reduce sickness and disability. The Strategic Plan is due to Congress in late December 2015. NIH would like the public to review the framework in the NIH Request for Information (RFI) and on the NIH website, and provide feedback via the RFI submission site by August 16
Read more about the NIH Strategic Plan
Read more about the NIH Strategic Plan

Posted: August 05, 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  

Enlarge the graphic

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