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Eric Green

February 7, 2019

Last month, NHGRI experienced the closest thing that we have to a birthday celebration. On January 14, 1997, NHGRI was 'born' as an Institute, graduating from being a Center (the National Center for Human Genome Research). That means NHGRI just turned 22 years old as an Institute - so happy birthday to us!

Last month also brought the largest event to date associated with our ongoing 'Genomics2020' strategic planning process, a workshop focusing on the research opportunities for connecting genomic variation to phenotype (see story below). This gathering was nothing short of intense, stimulating, and exhilarating, with numerous compelling ideas emerging that will now feed into additional strategic-planning discussions.

All the best,


This month's The Genomics Landscape features stories about:


Bill Gahl Steps Down as NHGRI Clinical Director to Pursue Research

Bill Gahl

After ~16 years as Clinical Director within NHGRI's Intramural Research Program, Bill Gahl, M.D., Ph.D., stepped down from this important leadership position at the end of 2018. Bill has developed an outstanding track record as both a physician and a scientist. Although he has stepped down as Clinical Director, he will remain at NHGRI to focus on his research program.

Bill earned both an M.D. and a Ph.D. from the University of Wisconsin, after which he trained in pediatrics at the same institution. He then came to NIH for successive fellowships in clinical genetics and clinical biochemical genetics within the NIH's Inter-Institute Medical Genetics Training Program, which he then directed from 1989 to 1994. During his lengthy research career, Bill has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He has made seminal discoveries about inborn errors of metabolism (including the establishment of the field of lysosomal membrane transport) by discovering the basic defects in cystinosis, Salla disease, and infantile free sialic acid storage disease. He brought the cystine-depleting agent cysteamine, a life-saving compound, to New Drug Approval in 1994 by his testimony before an FDA panel. Bill has become the world's expert on cystinosis, disorders of sialic acid metabolism, Hermansky-Pudlak syndrome, and alkaptonuria.

One of Bill's signature professional achievements was the founding of the NIH Undiagnosed Diseases Program (UDP), announced in May 2008 by then-NIH Director Dr. Elias Zerhouni. The UDP aims to provide answers to patients with mysterious medical conditions that have long eluded diagnosis. This trans-NIH initiative, which has brought distinction to the NIH Intramural Research Program and the NIH Clinical Center, focuses on the most puzzling medical cases from around the world. As the founding Director of the UDP, Bill brokered a unique combination of medical and scientific resources to make genetic discoveries and further the research of undiagnosed diseases. Key to the UDP's successes to date has been Bill's ability to recruit both outstanding NIH clinicians as well as genomic experts and technologies (including genome sequencing) to the program.  As one of his UDP highlights, Bill fondly recalls the discovery of the program's first new disease - Arterial Calcification due to Deficiency of CD73; this work was published in the New England Journal of Medicine in 2011. Building on the early successes of the UDP, NIH expanded the program to form a national Undiagnosed Diseases Network (UDN) in 2012. Bill worked internationally to expand that effort to the Undiagnosed Diseases Network International (UDNI,, which now involves numerous clinical researchers in over a dozen countries. Without Bill's leadership and vision, these undiagnosed disease efforts would have never come to fruition.

Bill's record of accomplishments is quite impressive. He has published more than 450 papers and trained 42 biochemical geneticists. He has received the Dr. Nathan Davis Award for Outstanding Government Service from the American Medical Association, the Service to America Medal in Science and the Environment in 2011, a tribute by Senator Ben Cardin in the Congressional Record on March 10, 2015, and elected into the National Academy of Medicine in October 2018. As a seminal honor, Bill was invited to deliver the 2018 NIH Clinical Center Astute Clinician Lecture, which he presented on November 7, 2018. He has appeared on TV multiple times: 60 Minutes, CNN, FOX, PBS, Discovery Channel; in addition, he and the UDP/UDN have been featured in dozens of prominent news features in the printed and electronic press (e.g., see next story).

Known for his relentless repertoire of jokes, Bill has a large personality that is known well beyond NHGRI. His intellectual and community contributions to NHGRI and NIH have been nothing short of spectacular to date and will now continue in the next phase of his career. In the near future, a search will be launched for a new NHGRI Clinical Director; in the interim, Dr. Dan Kastner, Director of NHGRI's Division of Intramural Research, is serving as Acting Clinical Director. For more information on NHGRI's Office of the Clinical Director, see

NIH Undiagnosed Diseases Network Featured in the New York Times

UDN Meeting participants

Last month, the NIH Undiagnosed Diseases Network (UDN) was featured in a New York Times article. The UDN is a research program that aims to improve and accelerate diagnosis of rare and undiagnosed conditions. The published article describes the experiences of three patients seen by the UDN team for clinical presentations that previously could not be diagnosed. Patients such as these often suffer the severe frustration of being unable to find treatment for their conditions or even of having clarity about their condition. The article describes the different UDN journeys for these three patients - one to a diagnosis, one to additional information and hope, and one to successful treatment.

Video Recording of 'From Genome to Phenotype Workshop' Now Available

Panel from Genome to Phenotype Workshop

Last month, NHGRI convened a major 'Genomics2020' strategic planning workshop, entitled "From Genome to Phenotype: Genomic Variation Identification, Association, and Function in Human Health and Disease." Over 150 researchers gathered to discuss research opportunities for connecting genomic variation to phenotype. A key priority for human genomics is to understand the 'genotype-to-phenotype connection' for all human traits, thereby gaining fundamental insights about the nature of inherited disease. An active Twitter chat accompanied the workshop using the hashtag #genomics2020. A recorded videocast of the workshop's plenary sessions is now available.

National DNA Day Essay Contest Now Open

Student writing an essay

The 14th Annual DNA Day Essay Contest, sponsored by the American Society of Human Genetics, is now open. The contest was established to commemorate the completion of the Human Genome Project in 2003. It is open to high school students worldwide and provides the opportunity for participants to examine, question, and reflect on important concepts in genomics. This year's question asks students if a medical provider should disclose a patient's genomic information to close relatives after receiving a diagnosis. Teachers must submit the essays for their students by Friday, March 8, 2019 through a dedicated link. Winners of the essay contest will be announced on Thursday, April 25, 2019.

NHGRI Strategic Plan 20/20
  • The NHGRI 'Genomics2020' strategic planning workshop entitled "From Genome to Phenotype: Genomic Variation Identification, Association, and Function in Human Health and Disease" was held on January 22-24. View the recording on GenomeTV.
  • To stay informed about the various strategic planning events, please sign up for email updates and monitor the 'Genomics2020' calendar.
Genomics Research

BRCA Exchange Aggregates Data on Thousands of BRCA Variants to Inform Understanding of Cancer Risk

Researchers Discover That Kidney Disease Gene Affects More Populations Than Previously Thought

All of Us Research Program Expands Data Collection Efforts with Fitbit

Faulty Molecular Master Switch May Contribute to AMD

Blood Test Shows Promise for Early Detection of Severe Lung-Transplant Rejection

Moving Closer to a Stem Cell-Based Treatment for AMD

UCLA-Led Team Uncovers Critical New Clues about What Goes Awry in Brains of People with Autism

Notable Accomplishments in Genomic Medicine

Genomics Videos

Electronic Medical Records and Genomics (eMERGE) Network & Clinical Sequencing Evidence-Generating Research (CSER): Genomics and Medicine Steering Committee Meeting

Patients and their Families Work with NIH Researchers to Advance Research on Methylmalonic Acidemia

Upcoming Videocasts & Webinars

Eighty-Fifth Meeting: National Advisory Council for Human Genome Research - Feb 11

Take Initiative: DNA Day Engagement and You - Feb 21

Funding Opportunities

Human Biomolecular Atlas Program (HuBMAP): Rapid Implementation of Technologies that Will Accelerate Development of a Framework for Mapping the Human Body at High Resolution

High Quality Human Reference Genomes (HQRG)  

Research and Development for Genome Reference Representations (GRR)

Human Genome Reference Center (HGRC)

Funding News

Notice of Intent to Publish a Funding Opportunity Announcement for Administrative Supplements for Research on Bioethical Issues

NIH Policy for Review and Resubmission of New Investigator R01 Applications

Notice of Clarification Regarding Harassment and Discrimination Protections in NIH Training Applications

Notice of Change: Emphasizing Opportunity for Developing Comprehensive Human Genome Sequencing Methodologies in Response to NHGRI Novel Nucleic Acid Sequencing Technology Development FOAs

Request for Information

Input on Revised Definition of Behavioral and Social Sciences Research at NIH


Bruce J. Tromberg, Ph.D., appointed Director of the National Institute of Biomedical Imaging and Bioengineering

New Fellowship Program Will Support the Next Generation of African Scientific Leaders

The Future of Minority Health and Health Disparities Research is Here

Genome: Unlocking Life's Code January 2019 Newsletter


Genome Unlocking Life's Code

The Genome: Unlocking Life's Code exhibition is currently touring North America. 

Next: January 19, 2019 - May 19, 2019
McWane Science Center
Birmingham, Alabama


Posted: February 7, 2019