Director's Page Archive

National Human Genome Research Institute

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

Director's Page Archive

August 5, 2014: Undiagnosed Diseases Network: Solving Medical Mysteries

The Undiagnosed Diseases Program (UDP)†launched in 2008 as a partnership among NHGRI, the NIH Clinical Center and the Office of Rare Diseases Research, seeks to provide answers to patients with mysterious conditions that have eluded diagnosis. This multidisciplinary clinical and research team has diagnosed ~100 patients, discovered two previously unknown diseases and identified 50 genes not previously associated with any other human disease.
August Genomics LandscapePDF file

July 8, 2014: Mark Guyer, NHGRI founding member and Deputy Director, hangs up his federal hat

A big change has occurred at NHGRI this summer. Founding staff member, Dr. Mark Guyer, formally retired from federal service on June 30. For most of his time at NHGRI, Mark was a key leader of the Extramural Research Program; most recently, he was the NHGRI Deputy Director. Much could be said of Mark's career in the federal government. For example, I could describe his critical role in the Human Genome Project, or name the many genomics programs that he has helped to establish and nurture, or tell you about the vital role he has played as a trusted advisor to me and other NHGRI leadership. Instead, I will use this opportunity to share some thoughts about Mark from other people that he has worked with over the course of his impressive career.
July Genomics LandscapePDF file

June 3, 2014: Capturing the Past: NHGRI Historical Archiving Initiative
Starting with NHGRI's original raison d'Ítre - the Human Genome Project - NHGRI has been closely tied to or led a number of very high-profile genomics projects. These efforts have produced massive volumes of documents, notes, emails, slides, photographs, videos and other materials. As the institute's scientific portfolio widens, the pace of generating such materials is only growing. Several years ago, I realized that we were at risk of losing valuable materials that are of historic value because we lacked a systematic approach for archiving institute resources.
June Genomics LandscapePDF file
May 6, 2014: NHGRI's Research Training and Career Development: Genome Science to Genomic Medicine
The fast-paced nature of genomics provides seemingly endless opportunities to pursue exciting research. While invigorating, this presents challenges when it comes to ensuring the presence of a strong pool of future researchers and providing genomics expertise to individuals at different points in their scientific careers. Providing genomics training is thus an important component of NHGRI's mission. How does NHGRI's Extramural Research Program prioritize its training efforts? How do we ensure that the appropriate expertise is available to the researchers who will solve complex genomic problems and bring genomics to medical care?
May Genomics LandscapePDF file
April 5, 2014:†DNA Day: Inspiring the Future Generation of Scientists
Engaging students at a young age†offers our best chance to inspire them about scientific concepts and the process of scientific inquiry. For that reason, NHGRI has an active and robust outreach and education program. On April 25th, we will celebrate the 12th Annual National DNA Day, which commemorates the completion of the Human Genome Project in 2003 and the discovery of DNA's double-helical structure in 1953. NHGRI celebrates DNA Day every year with a number of events. Below, I highlight some of our DNA Day programs, as well as our other student- and teacher-focused activities that bring genomics into the classroom.†April Genomics LandscapePDF file
March 5, 2014: NHGRI's Extramural Research Portfolio - Slicing the Funding Pie
The most important task for an Institute's Extramural Research Program (ERP) is to develop and support a high-quality research portfolio. To this end, NHGRI has undertaken multiple strategic planning efforts, starting with the Human Genome Project and most recently culminating in the publication of "Charting a course for genomic medicine from base pairs to bedside" in 2011. While determining the broad goals for genomics is key for our research agenda, more challenging is making hard decisions about the relative priorities for the various programs that we could fund. Add to that the current challenging budget situation, and we quickly find ourselves facing many difficult choices.
March Genomics LandscapePDF file

February 4, 2014: The Big Data to Knowledge (BD2K) Initiative

The topic of 'Big Data' (of all sorts) has become a hot one across the industrial, academic, and non-profit sectors.† Recognizing the importance of biomedical Big Data to NIH, a Data and Informatics Working Group of the Advisory Committee to the NIH Director made a set of recommendations in 2012PDF file that outlined programmatic ways for NIH to address the opportunities and challenges facing all biomedical researchers in accessing, managing, analyzing, and integrating the increasingly large amount of data.† On the basis of that report, the Big Data to Knowledge (BD2K) Initiative was conceived.
February Genomics LandscapePDF file

January 7, 2014: A Decade of the NHGRI Social and Behavioral Research Branch
As mentioned in last month's The Genomics Landscape, the NHGRI Intramural Research Program (IRP) recently reached its 20-year milestone.† With its diverse spectrum of research- from genomic technology development to clinical genomics research and everything in between- the NHGRI IRP continues to serve as an important focal point for genomics research at NIH and worldwide.† One of the IRP's key contributions to genomics research is the Social and Behavioral Research Branch (SBRB), now celebrating its 10th anniversary.
January Genomics LandscapePDF file

December 10, 2013: Jumping into the Deep End of Genomic Medicine
When NHGRI published its new strategic vision for genomics (Charting a course for genomic medicine from base pairs to bedside) in 2011, we recognized that the Institute had a lot to learn about the research needed to apply genomics to clinical care. At the same time, it seemed critical that we begin to establish a foundation of research programs that would facilitate the implementation of genomic medicine, so we decided to jump in and start swimming!
December Genomics LandscapePDF file

November 14, 2013: Announcing the first director of NHGRI's Division of Genomics and Society
Following an extensive search process, I am delighted to announce my selection for the first Director of the newly established Division of Genomics and Society: Dr. Larry Brody. A long-standing member of the Institute, Larry is currently Chief of the Genome Technology Branch within our Intramural Research Program and Chief Scientific Officer of the trans-NIH Center for Inherited Disease Research.
November Genomics LandscapePDF file

October 21, 2013: Welcome Fiscal Year 2014! - Or Not?

Today marks the beginning of the third week of Fiscal Year 2014 for the U.S. federal government.† Originally, I intended to send out this message on October 1st, at the start of the Fiscal Year. But, among its many other effects, the 16-day government shutdown prevented that. †Unfortunately, even though the government has reopened, it is going to take many weeks to resolve the numerous problems created by the shutdown.† We are well-aware that the shutdown not only affected us as federal employees, but many of you as well, and those of us at NHGRI (and NIH) are working hard to normalize our operations.†
October Genomics LandscapePDF file

April 30, 2013: The 10-year anniversary of the Human Genome Project: commemorating and reflecting

On April 14, 2003,†the National Human Genome Research Institute (NHGRI) and our international partners announced the completion of the Human Genome Project (HGP) and the successful generation of a highly accurate and publically available reference sequence of the human genome. Those ordered ~3 billion letters provided the most fundamental knowledge about the human genetic blueprint and gave us a framework of knowledge for pursuing numerous new and exciting genomic studies.

March 21, 2013: Considering ACMG's practice guidelines for incidental genomic findings
Editor's Note: The American College of Medical Genetics and Genomics (ACMG) has issued a clarification of these guidelines.

At its recent annual meeting, the Board of Directors of the American College of Medical Genetics and Genomics (ACMG) approved the first set of practice guidelines to help doctors begin to navigate this new area. These practice guidelines represent an important step in using genomic information for routine medical care, a key goal put forward in NHGRI's 2011 strategic plan for genomics.


December†5, 2012: Answering Big Questions

NHGRI could be called the institute of big questions - and answering big questions often takes big efforts. The big question that led to the creation of the National Human Genome Research Institute (NHGRI) was: "What is the sequence of the human genome?" It was a hard question to contemplate in the mid-1980s, less than four decades after the structure of DNA had first been elucidated and at a time when DNA sequencing technologies were in their infancy. Answering the "3 billion letter" question seemed like a herculean task at the time.

June 5, 2012: NHGRI and the Smithsonian Institution: a new partnership

Early in the summer of 2013, the Smithsonian's National Museum of Natureal History (NMNH) will open a special exhibition on genomics and the human genome. This opening is timed to commemorate the 10th anniversary of the completion of the Human Genome Project, which produced the first high-quality reference sequence of the human genome, and the 60th anniversary of the famous Nature paper in which James Watson and Francis Crick first reported DNA's double-helical structure.


November 17, 2011: Human Genome Project produces many benefits

For years, many considered the Human Genome Project to be biology's equivalent to "the moon shot." In collaboration with its global partners, the U.S. government did what no individual or company could do: invested in a technologically risky scientific enterprise with a potentially big payoff. The project was an overwhelming success, delivering the first rough draft human genome sequence in 2000 and the final high-quality version in 2003 - ahead of schedule and under budget.

February 11, 2011: NHGRI Charts Course for Genomic Medicine

For years, many considered the Human Genome Project to be biology's equivalent to "the moon shot." In collaboration with its global partners, the U.S. government did what no individual or company could do: invested in a technologically risky scientific enterprise with a potentially big payoff. The project was an overwhelming success, delivering the first rough draft human genome sequence in 2000 and the final high-quality version in 2003 - ahead of schedule and under budget.


September 10, 2010: Vanity Genomes and the Future of Medical Sequencing

Five-time, Oscar-nominated actress Glenn Close had hers done. So did Nobel Peace Prize winner Archbishop Desmond Tutu. The double helix-writing geneticist James Watson did not want to know about everything that was in his. But everyone wants to know what is in British heavy metal rocker Ozzy Osbourne's - it might help explain how he is still alive today after decades of dissolute living.

March 1, 2010: Celebrating the 10th Anniversary of the Draft Human Sequence

Ten years ago this June, my predecessor, Francis Collins, stood in the East Room of the White House with President Bill Clinton and declared the first draft of the human genome sequence complete. It's been a remarkable decade for the field of genomics, and this year, 2010, will be another important one.

January 1, 2010: Introducing New NHGRI Director, Dr. Eric Green

This is a profoundly exciting time for the National Human Genome Research Institute (NHGRI) and for genomics. There are vast opportunities for genomics research to make major contributions to our understanding of human disease, including its diagnosis, treatment and even prevention. As I take the helm of NHGRI, I find the institute well-positioned to pursue its important mission by capitalizing on these opportunities.

Last Updated: September 3, 2014

Posted: September 10, 2010