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NHGRI conducts evaluation of the Centers of Excellence in Genomic Science Program

Eric Green, M.D., Ph.D. March 07, 2024

I am excited about the upcoming appointments of two people into leadership positions of major significance to NHGRI. First, later this spring, the American Society of Human Genetics (ASHG) will be appointing Amanda Perl as its new Chief Executive Officer. Amanda will bring extensive experience in leading scientific societies, mostly recently at the American Thyroid Association, to her new role. With the numerous ongoing key collaborations between ASHG and NHGRI, I look forward to working closely with Amanda in the coming years. Second, later this month, Sean Mooney, Ph.D., will become the director of NIH’s Center for Information Technology (CIT). In this role, Sean will play a major part in helping to optimize NIH’s data ecosystem, something of critical importance for genomics. In addition, Sean’s own research group will be housed within NHGRI’s Intramural Research Program.

If you are interested in learning more about the goings-on of NHGRI’s Extramural Research Program, I would suggest that you sign up for our extramural listserv. In doing so, you will receive monthly emails about funding opportunities and other relevant announcements.

All the best,


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NHGRI conducts evaluation of the Centers of Excellence in Genomic Science Program

CEGS Program Evaluation Report Cover


As stewards of federal funds, the institutes and centers that make up NIH are expected to take a critical and evaluative look at their programs and to use the resulting information from those evaluations to drive priority setting and other future planning. Recently, a group of experts — led by Chris Gunter, Ph.D., and including Molly Bird, Ph.D., Maya VanZanten, and a group from Ripple Effect, Inc. — completed a large-scale evaluation of the institute’s Centers of Excellence in Genomic Science (CEGS) Program. The CEGS Program was launched in 2000 and has supported research at 31 centers to date.

The CEGS Program aims to develop new concepts, methods, approaches, tools, and technologies by bringing together multidisciplinary groups of investigators and tackling major genomics challenges. The centers are required to develop outreach plans to enhance the diversity of researchers and research participants and to share data and related resources with the broader research community. To date, the centers have pursued using a “high-risk, high-reward” model, aiming to have a high degree of novelty, strong potential for making a major impact on the field, integrated approaches, and the ability to take scientific risks in pursuit of significant advances. Both developing new technologies and linking existing technologies to biological challenges have proven to be fundamental to the CEGS program.

In examining the CEGS Program to date, Dr. Gunter and her collaborators performed a mixed-methods evaluation by interviewing principal investigators, surveying other researchers, and conducting a bibliometric analysis of the work supported by the CEGS grants. For additional context, the team also compiled a comparison group of individual investigator grants. The resulting comparative data were used to assess the impact of the CEGS Program relative to other NHGRI-funded efforts, including the program’s influence on genomics knowledge and research applications and the career trajectories of CEGS grantees.

Detailed findings of the CEGS Program evaluation can be found on genome.gov, but several high-level summary features deserve highlighting. Since 2000, CEGS grants have yielded 14 times more patents per grant than subject-comparable individual investigator grants, in keeping with their mission to develop new technologies and tools. CEGS grants also produced more papers — including more highly cited papers — per grant than comparable R01 grants, though CEGS grants produced fewer papers per million dollars of funding. This last feature is likely due in part to the additional requirements for infrastructure and outreach associated with CEGS grants.

Additionally, CEGS-supported scientists at all educational levels felt that the CEGS grants contributed to their careers and provided them opportunities that would not have otherwise been available. The CEGS principal investigators noted that the relative strengths of the CEGS grant mechanism include its high-risk, high-reward nature and its focus on technology development with links to biological questions. Suggestions for improving the CEGS Program included broadening the focus beyond DNA and RNA; increasing training opportunities and resources; and developing a smaller or shorter version of CEGS grants.

This evaluation of the CEGS Program is the first among a number of planned efforts to conduct thorough examinations of NHGRI-funded programs. The gathered information and analyses will help NHGRI to improve programs going forward and inform future priority setting and programmatic development.

NHGRI invites you to celebrate DNA Day 2024

National DNA Day - April 25


Each year, National DNA Day is celebrated on April 25 to commemorate the completion of the Human Genome Project and the discovery of DNA's double-helix structure. DNA Day offers an opportunity for everyone to share in the wonder and excitement of the important roles genomics plays in everyday lives, now and in the future. There are many ways to celebrate DNA Day. In addition to attending the Louise M. Slaughter National DNA Day Lecture on April 26 at 3 p.m. ET, NHGRI is encouraging people to lead DNA Day events or activities. One example would be organizing a strawberry DNA extraction activity at a local school, library, farmer’s market, or community center. An event for adults could include facilitating a “hot topics in genomics” discussion at a venue like Nerd Nite, Science Cafes, or Science on Tap. Celebration of DNA Day can also be digital, such as sharing educational resources or hosting a livestream or chat on social media using the hashtag #DNADay24. Anyone interested in leading a DNA Day event is encouraged to register the event on genome.gov. There, you can also download materials from a Starter Kit, find more activity ideas, and get local partners involved. Registered events will be shared on our National DNA Day events map and on social media.

NIH Undiagnosed Diseases Program featured in Washingtonian magazine

Drs. William Gahl and Cynthia Tifft meet with patients in the NIH Undiagnosed Diseases Program.


Washingtonian, a D.C.-based monthly magazine, recently published an article that featured the NIH Undiagnosed Diseases Program in their latest issue. The article follows NHGRI researchers as they navigate perplexing medical cases involving patients who are referred to the NIH Clinical Center. Among the featured researchers are Bill Gahl, M.D., Ph.D., David Adams, M.D., Ph.D., and Cyndi Tifft, M.D., Ph.D., among other members of the Undiagnosed Diseases Program team. The article details the experiences of the program’s clinicians and researchers and their diagnostic processes. The story focuses on a patient with a genomic variant in WARS2, a crucial gene that produces proteins important in the mitochondria, the parts of the cell that produce the majority of the body’s energy. Read the article in the March print edition of the Washingtonian and find the online version later in March.

Elaine Ostrander recognized with award for creativity in genetics research

Elaine Ostrander


Elaine Ostrander, Ph.D., a distinguished senior investigator in NHGRI’s Intramural Research Program, has been awarded the Edward Novitski Prize from the Genetics Society of America for her extraordinary creativity and intellectual ingenuity in genetics research. With a history in studying cancer genetics, Dr. Ostrander’s primary research focuses on the genomics of domestic dogs. While dogs are more genetically similar to humans than many species commonly used in research and they have many diseases in common, dogs have been generally underutilized in genomics research. In her research, Dr. Ostrander has worked closely with dog breeders and dog owners, as well as organizations like the Dogs of Chernobyl Program, which cares for stray dogs in the nuclear exclusion zone in Ukraine. Her remarkable accomplishments in canine genomics have provided valuable insights about numerous aspects of dog development and physiology, which have, in turn, advanced biological knowledge more broadly.

Genomics Research Spotlight

The evolution of human altriciality and brain development in comparative context
Gómez-Robles et al.
Nat Ecol Evol. 2024 Jan, PMID: 38049480


Compared to many other animals, which are able to take care of themselves from the moment of or shortly after birth, human newborns can be considered underdeveloped and therefore rely heavily on caregivers. This kind of underdevelopment and dependence is known as altriciality. Interestingly, primates, our closest relatives, do not show this trait to the same degree and are often considered precocial, meaning they can perform tasks such as movement or feeding themselves shortly after birth. In this article, researchers explored the evolution of altriciality in humans. The researchers confirm that humans are born with relatively smaller brains compared to primates but then have increased brain plasticity and longer development times after birth. Previously, it has been assumed that developmental processes that happened before birth in our ancestors have shifted to the postnatal period in humans. However, comparative analyses show that only a few important events in brain development have crossed from the prenatal to the postnatal period. These developmental events largely involve strengthening the connectivity of particular pathways in the brain. The researchers propose that either these few events have a large impact or the extended duration of neural plasticity in human development is key for how humans differ from other animals.


This research was funded in part by the NIH with a grant to Chester Sherwood, who is a professor at the George Washington University; that grant is part of the NIH Research Project Grant (PA-20-185).

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About The Genomics Landscape

A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.

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Last updated: March 7, 2024