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NIH

Eric Green

October 4, 2018

Aside from anticipating cooler weather, those of us in the federal government spend this time of year closely monitoring developments related to the budget for the new fiscal year, which always starts on October 1. Unlike most previous years in recent memory, the NIH (and therefore NHGRI) began Fiscal Year 2019 with an established budget - as opposed to having to operate initially with a 'Continuing Resolution' (i.e., last year's budget). On top of that, the U.S. Congress provided NIH a generous and welcome budgetary increase of ~$2 billion. Overall, NHGRI's budget is ~3.3% larger than last year's, which will allow us to be even more aggressive in our genomics research pursuits. These developments make the beginning of Fiscal Year 2019 a very celebratory one!

All the best,

Eric

This month's The Genomics Landscape features stories about:

 

Dr. Dan Kastner Honored as Federal Employee of the Year

 

Dan Kastner

The Partnership for Public Service, which grants the annual Service to America or "Sammies" awards, recently honored NHGRI's Scientific Director, Dr. Dan Kastner, as the Federal Employee of the Year. Often referred to as the "Oscars of government service," the Sammies are annual awards that recognize exceptional civil servants who have made significant and innovative contributions to the health, safety and prosperity of the American people. The Sammies are named after the Partnership for Public Service's late founder, the Samuel J. Heyman, who was inspired by President John F. Kennedy's call to serve in 1963. Dr. Kastner received the Sammie's highest honor as the Federal Employee of the Year.

In his over 30 years of federal service, Dr. Kastner has been a truly exceptional and highly productive physician and scientist, making ground-breaking discoveries about human autoinflammatory diseases. He has identified the molecular causes of an impressive list of human illnesses, proposed a now widely-accepted explanation for immune disorders, identified critical insights into innate immunity, and pioneered the use of targeted therapies. All of these contributions have had a major impact on the lives of patients.

Dan originally joined NIH in the mid-1980's as a Rheumatology Fellow. There, he began his life's work on rare human illnesses characterized by seemingly unprovoked recurrent fevers and inflammation. These illnesses, which were categorized as 'periodic fevers,' were poorly defined, with little known cause, course, or treatment. Since that time, Dan has established the field of autoinflammation and become its intellectual driver. He discovered the first autoinflammatory disease genes, proposed the concept of autoinflammation, and discovered and characterized numerous additional autoinflammatory disease genes.

Dan's work with patients has yielded clinical, genomic, and immunological analyses of these rare human autoinflammatory illnesses. In doing so, he has opened new fields of biology and medicine and has had a profound and growing impact on patient care. By identifying and defining the molecular basis of these illnesses, Dan's efforts have enabled patients to obtain genetic diagnoses for their conditions, which had previously been indistinguishable from similar types of conditions. His numerous achievements include discovering new molecules in the human innate immune system and providing important insights into their function; defining a new class of immune disorders, the autoinflammatory diseases, that are now recognized to be illnesses caused by changes in the innate immune system; and laying the foundation for the use of targeted therapies in these diseases, as well as in more common inflammatory conditions.

In the 1990's, Dan organized and led an international consortium that used positional cloning to identify MEFV, the gene mutated in familial Mediterranean fever (FMF). MEFV encodes what was then a novel protein, but is now recognized as the prototype for a domain identified in 20 proteins involved in inflammation and cell death (a key to innate immunity). The identification of MEFV both enabled genetic diagnosis of FMF and allowed for the identification of patients with periodic fevers who did not have mutations in MEFV. Dan subsequently led the effort to identify other autoinflammatory disease genes, which prompted the discovery of a dominantly-inherited condition he named TRAPS (Tumor Necrosis Factor receptor-associated periodic syndrome). In the initial description of TRAPS, Dan proposed the concept of autoinflammatory disease to denote a group of disorders in which the innate immune system plays a primary pathogenic role. Dan and his colleagues also pioneered the use of targeted therapies in the autoinflammatory diseases, including the likely first use of an IL-1 inhibitor in FMF. As a direct result of Dan's work, children who would otherwise be severely disabled or would have succumbed to their illnesses are now attending college.

At the NIH Clinical Center, Dan has established a large referral clinic that is the gold standard for patients with undiagnosed inflammatory illnesses from around the world. Through the careful study of these patients, Dan and his colleagues have discovered the genes underlying, and in some cases defining, a number of illnesses. In addition to the many rare genetic variants discovered, Dan's group has had an important role in identifying a number of variants that contribute to susceptibility to common disorders such as Behçet's disease, rheumatoid arthritis, and systemic lupus erythematosus.

Since the beginning of his federal career at NIH, Dan has worked his way through the ranks. His original Rheumatology fellowship at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) turned into an investigator position there, and then in 2005, he was appointed NIAMS Clinical Director. In 2008, he was also appointed as the first NIH Deputy Director for Intramural Clinical Research. Dan joined NHGRI in late 2010 as Scientific Director and Director of the Institute's Division of Intramural Research.

Dan's prodigious set of accomplishments have brought him numerous awards and honors, including election to the National Academy of Sciences in 2010 and to the National Academy of Medicine, previously the Institute of Medicine, in 2012. He can now add to that list the 2018 Sammie's Federal Employee of the Year designation, an incredibly well-deserved honor. NHGRI offers its sincere and heartfelt congratulations to Dan!


NIH Institutes Create Online Omics Nursing Science & Education Network (ONSEN)

Nurses

NHGRI, the National Institute of Nursing Research, and the National Cancer Institute have created a new web-based resource, the Omics Nursing Science & Education Network (ONSEN). The goal of ONSEN is to facilitate investigator-driven research through creation of a web-based collaborative research network infrastructure that will provide information, resources, and networking opportunities. Initiated from the nursing genomics community, the website includes a searchable database of 'omics' projects, and aims to foster collaborations among investigators in all disciplines. The website also provides opportunities to identify mentors and pre/post-doctoral opportunities in 'omics' research.


ASHG-NHGRI Genetics & Public Policy and Genetics Education & Engagement Fellows

ASHG Fellows: Eve Granatowsky and Dyana Christopher

Each year, NHGRI's Division of Policy, Communications, and Education partners with the American Society of Human Genetics (ASHG) in sponsoring two fellowships - the Genetics & Public Policy Fellowship and the Genetics Education & Engagement Fellowship. This year's Genetics & Public Policy fellow, Eve Granatosky, Ph.D. (pictured left), will gain valuable policy experience at NHGRI, at ASHG, and in the U.S. Congress. The Genetics Education & Engagement fellow, Dyanna Christopher, M.P.H. (pictured right), will receive training and experience in preparation for a career in genetics/genomics education and community engagement. We welcome both to NHGRI and wish them a successful 16-month fellowship!


Human Microbiome Project Leader Retires

Lita Proctor

NHGRI extramural program director, Dr. Lita Proctor, retired at the end of last month. Lita came to NHGRI in 2010 to lead the Institute's efforts in managing the first phase of the Human Microbiome Project. She has been integral to the success of that project, including its transition to a second phase and its ultimate completion. The Human Microbiome Project is often cited as an 'exemplar' NIH Common Fund program. It has also helped to establish and advance microbiome research at the NIH more broadly. Lita will stay on as a volunteer to guide the completion of some trans-NIH microbiome publications. We wish Lita the best of luck in navigating the world of retirement!

NHGRI Strategic Plan 20/20

 

  • NHGRI held a 'Genomics 2020' Town Hall at Morehouse School of Medicine in Atlanta, Georgia on September 26, 2018.
     
  • A satellite meeting at American Society of Human Genetics Meeting will be held on Tuesday, October 16, 2018.
     
  • To stay informed about the various strategic planning events, please sign up for email updates and monitor the 'Genomics2020' calendar.
Genomics Research

International Vertebrate Genomes Project Releases First 15 High-Quality Reference Genomes

Gene Editing in Dogs Boosts Hope for Kids with Muscular Dystrophy

Gene Variations Linked to Severity of Zika-Related Birth Defects, Small NIH Study Suggests

Notable Accomplishments in Genomic Medicine


Videos

What is Precision Medicine Really?

Making Precision Medicine Socially Precise - Esteban González Burchard

Genomic Medicine XI: Research Directions in Genomic Medicine Implementation

Eighty-Fourth Meeting of the National Advisory Council for Human Genome Research

NHGRI's Oral History Collection: Interview with David Schlessinger


Funding News

Clarification: Fixed Amount Award Definition and Implementation for Clinical Trials

Notice of Increases to the Simplified Acquisition and Micro-Purchase Thresholds by the Office of Management and Budget


NIH & NHGRI News

Invitation to Participate in an ENCODE Data Utilization Workshop

NIH-Funded Genome Centers to Accelerate Precision Medicine Discoveries

NIH All of Us Research Program Announces Kelly Gebo as Chief Medical and Scientific Officer

NIH Launches Initiative to Accelerate Genetic Therapies to Cure Sickle Cell Disease

Changing the Culture of Science to End Sexual Harassment

The NIH Undiagnosed Diseases Network Expands

NIH Leaders Call for a Consensus on the Use of Race and Ethnicity Data in Biomedical Research

NIH to Build a Detailed Map of Cells within the Human Body

2018 NIH Director's Awards for High-Risk, High-Reward Research Program Announced

Genome: Unlocking Life's Code September 2018 Newsletter

Genome Unlocking Life's Code

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

Next: October 6, 2018 - January 6, 2019
County History Museum
Orlando, Florida

Last Updated: October 16, 2018