Highlights Archive

Showing all entries (from most to least recent)

Genome Advance of the Month

The "bunny ear" hypothesis: How defective DNA looping may contribute to cancer

Read more Your DNA forms thousands of "bunny ear" loops, like those of a shoelace. Your DNA creates "genetic neighborhoods" within each bunny ear loop. These neighborhoods bring distant genes and specific gene control switches into close proximity. The December Genome Advance of the Month highlights a landmark study in Nature that describes what happens when two genetic neighborhoods merge in brain tumor cells. Read more

Posted: January 29, 2016  

NHGRI & ASHG seek policy and education fellowship applicants

Fellows group photo NHGRI and the American Society of Human Genetics (ASHG) are now accepting applications for the 2016 Genetics & Public Policy Fellowship and the 2016 Genetics & Education Fellowship. The application period is now open for both fellowships until April 25, 2016.
The Genetics & Public Policy Fellowship
The Genetics & Education Fellowship

Posted: January 26, 2016  

New ENCODE funding opportunities released, Webinar scheduled

ENCODE Information on five new research funding opportunities for the NHGRI ENCyclopedia of DNA Elements (ENCODE) Project is now available. To explain these initiatives, a pre-application, information Webinar will be held Tuesday, Feb. 2, 2016, from 11 a.m. to 2 p.m. Eastern. Please see the ENCODE website by Jan. 29 for instructions on participating. Submit questions or comments on the RFAs to ENCODE@mail.nih.gov before Feb. 1. Read more

Posted: January 22, 2016  

NIH genome sequencing program targets the genomic bases of common, rare disease

DNA double helix with world map The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. On January 14, the National Human Genome Research Institute (NHGRI), part of NIH, launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases. Read more

Posted: January 14, 2016  

Genome Advance of the Month

Gene-editing technology harnessed to protect plants from viruses

Plants and CRISPR Scientists are using an exciting gene editing tool called CRISPR/Cas9 to protect plants from harmful DNA viruses. The CRISPR/Cas9 system has previously been adapted for use in many organisms, and this latest iteration develops gene-editing for use in plants. The November Genome Advance of the Month describes how these scientists inserted the code for an ancient bacterial immune system into a plant's genome to successfully strengthen the plant's protection against viruses. Read more

Posted: January 08, 2016  

The Genomics Landscape

NHGRI Genome Sequencing Program: Blazing the Path Forward in Human Disease Genomics

Eric Green Much to the chagrin of most adult Washingtonians (I note that children have a very different attitude about this), our seemingly mild winter ended abruptly last weekend with the accumulation of a record-breaking amount of snow. However, the 'Blizzard of 2016' failed to chill my enthusiasm for recent developments with the NHGRI Genome Sequencing Program - whose new phase was announced last month. Read more

Posted: January 05, 2016  

NHGRI summarizes proposed changes to the Common Rule
relevant to genomics research

Human Subjects The federal policy protecting people who participate in biomedical research, also known as the "Common Rule," is in the process of being revised. NHGRI has summarized the proposed changes relevant to genomics research. Read the summary and submit your comments to the Office for Human Research Protections by January 6. Read more

Posted: December 29, 2015  

This holiday season, resolve to discover your family health history

Read more Family gatherings around the holidays are the perfect time to learn about your family's health history. A few thoughtful questions can reveal a pathway to preventing future disease and improving your health. Vice Admiral Vivek H. Murthy, M.D., M.B.A., the U.S. Surgeon General, has upheld this proud tradition, and encourages Americans to talk about their family health histories and eventually record their inherited health conditions.
Learn how

Posted: December 18, 2015  

NIH unveils FY2016-2020 Strategic Plan

Read more The National Institutes of Health (NIH) today released the NIH-Wide Strategic Plan, Fiscal Years 2016-2020: Turning Discovery Into Health, which will ensure the agency remains well-positioned to capitalize on new opportunities for scientific exploration and address new challenges for human health. Developed after hearing from hundreds of stakeholders and scientific advisers, and in collaboration with leadership and staff of NIH's Institutes, Centers and Offices (ICO), the plan is designed to complement ICOs' individual strategic plans, which are aligned with their congressionally mandated missions. Read more

Posted: December 16, 2015   |  Comments (0)

Video now available

A Quarter Century after the Human Genome Project's Launch:
Lessons Beyond the Base Pairs

Read more To commemorate the 25th anniversary of the launch of the Human Genome Project (HGP), the NHGRI History of Genomics Program began the first in a series of seminars - A Quarter Century after the Human Genome Project's Launch: Lessons Beyond the Base Pairs on December 3rd. The program featured some of the first Human Genome Project participants, who shared their unique perspectives about the HGP and how the experience affected their careers.
Watch the video
Read more

Posted: December 14, 2015  

T-cell transcription factor may offer new pathway for vaccine research

T cell transcription The gold standard for a successful vaccine is the creation of long-lasting antibodies that will defend the body against disease for years. Now, a team headed by scientists at the National Human Genome Research Institute (NHGRI) has found a promising new area for vaccine developers to explore in search of that gold. The new discovery involves a protein called a transcription factor - a molecular switch that turns a gene or a cascade of genes on or off. Read more

Posted: December 11, 2015  

Cristina Kapustij joins NHGRI as policy chief

Cristina Kapustij Cristina Kapustij, M.S., has been named chief of the Policy and Program Analysis Branch (PPAB) at the National Human Genome Research Institute (NHGRI). She will oversee policy activities and evaluation as well as program reporting and assessment to support institute priorities. PPAB is a part of the Division of Policy, Communications and Education at NHGRI.
Read more

Posted: December 09, 2015   |  Comments (0)

Researchers identify gene variant involved in new inflammatory disorder

Nature Genetics NHGRI researchers have identified a new childhood-onset disorder they've named Haploinsufficiency of A20 (HA20) that presents with general inflammation, including fevers, mouth and genital ulcers, and arthritis. The disease results from a variant of a gene that regulates how the immune system responds to inflammation, infection and trauma. Published Dec. 7 in the advance online Nature Genetics. Read more

Posted: December 09, 2015  

The Genomics Landscape

NHGRI Develops Path Forward to Address Health Disparities

Eric Green This month's The Genomics Landscape, highlights NHGRI's efforts in addressing health disparities. Other important topics include the future of NHGRI's Clinical Sequencing Exploratory Research (CSER) program, for which we recently issued a Request for Information (RFI). Comments for this are due by December 7. Other items: information on new staff, retiring staff and a career achievement award. Read more

Posted: December 02, 2015  

Dr. Bob Blakesley, director of the NISC sequencing group, rides off into the sunset

Bob Blakesley Robert Blakesley, Ph.D., director of the sequencing group at the NIH Intramural Sequencing Center (NISC) in Rockville, Maryland, will retire on December 31st after a long, distinguished and singularly productive career in DNA sequencing. Known for his meticulous attention to detail, technical expertise and calm nature, Dr. Blakesley credits most of his success to his NISC team, a "fine group of individuals who work very hard." Read more

Posted: December 01, 2015  

Dr. Jeffery Schloss honored with HHS Career Achievement Award

Jeff Schloss Jeffery Schloss, Ph.D., director of the Division of Genome Sciences at the National Human Genome Research Institute, was honored with the U.S. Department of Health and Human Services (HHS) Career Achievement Award for his work in genome sequencing technology. HHS Secretary Sylvia Mathews Burwell presented the award to Dr. Schloss during the 2014 HHS Departmental Awards Ceremony held in Washington, D.C. on November 17. Read more

Posted: December 01, 2015  

Charting a course for genomic sequencing in patient care

Doctor with a young patient in a hospital bed In the nearly four years since its launch, the Clinical Sequencing Exploratory Research (CSER) program has made significant strides in defining the role of genomics in medicine. CSER is nearing the end of its first round of research awards. To help identify the direction of a potential follow-up program, CSER investigators and colleagues recently met in Bethesda, Maryland, for a one-day conference, Integrating Genomic Sequencing into Clinical Care: CSER and Beyond. Read more

Posted: November 24, 2015  

Join NHGRI in celebrating Family Health History Day!

Since 2004, the U.S. Surgeon General has recognized Thanksgiving as National Family Health History Day. This year, the National Human Genome Research Institute (NHGRI), along with Surgeon General Vice Admiral Vivek H. Murthy, M.D., M.B.A., encourages families to personalize their healthcare by sharing their family health history, and tracking illnesses from one generation to the next. Read more
Watch the video on YouTube

Posted: November 23, 2015  

New study finds genomic risk factors for juvenile arthritis

Dan Kastner Systemic juvenile idiopathic arthritis (sJIA) is a potentially life-threatening childhood disease, characterized by persistent joint swelling, pain and stiffness. Now, NHGRI Scientific Director Daniel Kastner, M.D., Ph.D., and his fellow investigators and colleagues have identified genomic variants that confer at least a two-fold increased risk of sJIA, suggesting a role for certain immune system genes in disease development. The results appeared in the Nov. 23 Proceedings of the National Academy of Sciences Early Edition. Read more

Posted: November 23, 2015  

Video now available
Newborn Screening

The Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program Webinar

On Wednesday, Nov. 18, four teams from the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program presented research updates via a live, public webinar. NSIGHT explores the use of genome sequencing information during the newborn period. For more information and to view webinar videos, go to: Webinar Agenda

Posted: November 16, 2015  

TCGA study reveals new clues to the genomic diversity of prostate cancer

Read more New findings on prostate cancer may enable doctors to make better diagnoses and prognoses for patients and provide novel directions for therapies, according to a study from The Cancer Genome Atlas (TCGA) Network. Investigators published the in-depth analysis of 333 prostate cancer tumors online November 5, 2015 in Cell. TCGA is jointly supported and managed by the National Human Genome Research Institute and the National Cancer Institute, both parts of the National Institutes of Health. Read more

Posted: November 05, 2015  

The Genomics Landscape

The 1000 Genomes Project

Eric Green In this month's The Genomics Landscape, I highlight the 1000 Genomes Project, which came to a close last month. At its conclusion, the 1000 Genomes Project cataloged more than 99 percent of all common - and many rare - human genomic variants. In November we also celebrate National Family History Day on Thanksgiving, a tradition at NHGRI and for the U.S. Surgeon General, and welcome a new investigator to NHGRI's intramural program.
Read more

Posted: November 03, 2015  

Genome Advance of the Month

Women with inherited breast cancer risk face numerous challenges

Read more September's Genome Advance of the Month spotlights a Swiss study on women who are at increased risk for inherited breast cancer and the long term challenges they face in managing their care. It also identifies some of the challenges of providing care to at-risk individuals and highlights opportunities for improved models of care. The study is published in Genetics in Medicine. Read more

Posted: November 02, 2015  

HHS requests comments on proposal to update rules governing research on study participants

National Archives and Records Administration 195 (Logo) Medical advances wouldn't be possible without individuals willing to volunteer to participate in research. 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: October 26, 2015  

Video now available

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 in Bethesda, Maryland. Meeting topics addressed the scientific contributions of the Clinical Sequencing Exploratory Research (CSER) Program, the integration of genomic sequencing into clinical care and the framework for a potential follow-up program. Watch video from that meeting now. View agenda and videos

Posted: October 19, 2015  

Dr. John Ohab to lead NHGRI communications

John Ohab Following a nationwide search, John Ohab, Ph.D., a neuroscientist and science communicator, has been named chief of the Communications and Public Liaison Branch (CPLB) at the National Human Genome Research Institute, part of the National Institutes of Health. In this role, he will oversee diverse communications activities about the institute's accomplishments, programs, goals and policies.
Read more

Posted: October 16, 2015  

Video now available

September Advisory Council Open Session

Council members If you missed the 75th open session of the National Advisory Council for Human Genome Research (NACHGR), video is now available for the September 21st meeting held at Fishers Lane Conference Center. National Human Genome Research Institute Director Eric Green reported to council, followed by talks on Stevens-Johnson syndrome, precision medicine and the Genomics and Society Working Group.
See it all at: 75th Council Meeting

Posted: October 13, 2015  

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