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The Genomics Landscape
May 5, 2015: Genome-Wide Association Studies Catalog

The recently announced Precision Medicine Initiative is on the minds of many people these days. Numerous developments are unfolding as the planning phase proceeds, and it seems that everywhere that I go, scientists and non-scientists alike are eager to hear details. Accordingly, I have added a new 'spotlight' on the Precision Medicine Initiative within The Genomics Landscape - immediately before the section containing links of interest. Each month, this spotlight will feature news regarding the Precision Medicine Initiative, so stay on the lookout for these regular updates. 

May Genomics LandscapePDF file

The Genomics Landscape
April 7, 2015: Celebrating DNA Day 2015: Engaging Teachers to Inspire Students

On April 24, we will celebrate National DNA Day 2015, which commemorates the completion of the Human Genome Project in 2003 and the discovery of DNA's double-helical structure in 1953. DNA Day offers students, teachers, and the public exciting opportunities to learn about the latest advances in genomics and to explore how genomics may be meaningful to their lives. Each year, NHGRI celebrates DNA Day with a number of events. This year, the Institute is working to engage teachers in genomics education through a variety of activities and new teaching resources. Below, I highlight some of our DNA Day 2015 activities, as well as our teacher-focused resources that bring genomics into the classroom.

April Genomics LandscapePDF file

The Genomics Landscape
March 3, 2015: Genomics in Africa

Roughly 100,000 years ago, humans migrated out of Africa and started to populate the globe. Although the human species is now associated with significant phenotypic variation, all humans have a genetic origin in Africa. The genomes of people currently living in Africa are more varied than those of people living anywhere else on Earth. Studying the genomes of Africans thus offers important opportunities to characterize and understand genomic variation. Despite this, Africans are largely underrepresented as both research participants and scientists in genetics and genomics.

March Genomics LandscapePDF file

February 5, 2015: President Obama's Precision Medicine Initiative

February's The Genomics Landscape is later than usual for a good reason! I was in the White House East Room with a number of other NHGRI and NIH colleagues to hear President Obama announce the Precision Medicine Initiative. I'm honored to be part of the extensive planning leading to last week's unveiling, and it will be gratifying to have NHGRI involved in making this important initiative a reality.
February Genomics LandscapePDF file

The Genomics Landscape
January 6, 2015: Next Phase: NHGRI's Genome Sequencing Program

Large-scale genome sequencing has been a central component of NHGRI's Extramural Research Program since the NHGRI's inception, starting with the Human Genome Project. In this month's The Genomics Landscape, I describe the next phase of NHGRI's Genome Sequencing Program and highlight additional items that I hope will be of interest to you.
January Genomics LandscapePDF file

The Genomics Landscape
December 4, 2014: NHGRI and Social Media

It is hard to believe (and, in fact, I find it shocking!) that today marks the beginning of my 6th year as Director of the National Human Genome Research Institute. The last five years have gone by in a flash, and I feel quite proud about what we have accomplished.
December Genomics LandscapePDF file

The Genomics Landscape
November 4, 2014: Changing the Face of Diagnostics in Clinical Microbiology

This issue of The Genomics Landscape describes the evolution of genome sequencing and its impact on public health surveillance and infectious disease diagnostics. Also highlighted: The first BD2K awards, National Family History Day, a new NHGRI executive officer and how to comment on our recent genome sequencing workshop.
November Genomics LandscapePDF file

The Genomics Landscape
October 7, 2014: Laboratory-Developed Tests: Public Comments Sought

In this month's The Genomics Landscape, Dr. Green describes a recent release from the U.S. Food and Drug Administration (FDA) announcing the steps that they are taking to help ensure the reliability of certain diagnostic tests. The FDA announcement comes at a critical transition for genomic medicine.
October Genomics LandscapePDF file

The Genomics Landscape
September 3, 2014: The Natural Evolution of Genomic Data Sharing

Rapid and broad data sharing has been a hallmark of genomics since the early days of the Human Genome Project (HGP). Today, it is well-appreciated in genomics that the work of individual investigators and large collaborative efforts alike benefits from access to data resources such as ENCODE, 1000 Genomes, and The Cancer Genome Atlas (TCGA). Furthermore, the cumulative benefit realized through the culture of genomic data sharing transcends individual projects, and has been essential to accelerating genomics research across the board.
September Genomics LandscapePDF file

The Genomics Landscape
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

The Genomics Landscape
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

The Genomics Landscape
June 3, 2014: Capturing the Past: NHGRI Historical Archiving Initiative

Starting with NHGRI's original raison d'être - 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

The Genomics Landscape
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

The Genomics Landscape
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

The Genomics Landscape
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 

The Genomics Landscape
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 2012 PDF 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 

The Genomics Landscape

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 

The Genomics Landscape
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 

The Genomics Landscape
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

The Genomics Landscape
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

This February, we celebrate the tenth anniversary of the initial sequence and analysis of the draft human genome sequence published in Nature with input from thousands of scientists working on behalf of the Human Genome Project. The analysis was a game changer. Before the genome, a researcher might spend months acquiring DNA and trying to identify a gene. After the genome, the researcher could open a web browser and look it up. The sequence and analysis of the human genome accelerated research dramatically.


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: June 2, 2015

Posted: February 2010