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Adam Phillippy appointed founding director of new Center for Genomics and Data Science Research

Eric Green, M.D., Ph.D. January 11, 2024

Happy New Year to you and yours — and here’s to a 2024 featuring many breakthrough genomics advances!

Last year ended with exciting news from the U.S. Food and Drug Administration (FDA), which approved two gene therapies for the treatment of sickle cell disease. About 100,000 Americans and millions of people around the world have sickle cell disease, and this treatment offers great promise for improving many lives. 

This afternoon, Genevieve Wojcik, Ph.D., M.H.S., from the Johns Hopkins Bloomberg School of Public Health, will speak as part of the Genomics and Health Disparities Lecture Series. Starting at 3 p.m. ET, Genevieve will give a talk about the interconnected effects of ancestry, genetics, and environment on human health. Virtual attendance for this lecture is open to the public, but registration is required. 

I would also like to make you aware of two events that I had the pleasure of participating in last month. Brendan Lee, MD., Ph.D., and I recorded an episode of the podcast DNA Today called “Genetics Wrapped 2023,” during which we reflected on the top genetics and genomics stories from the past year. The episode is now available on the DNA Today website and other podcast platforms. And as mentioned in last month’s The Genomics Landscape, the National Association of Scholars event "Unlocking the Genome: The Human Genome Project" featured me, Aristides Patrinos, Ph.D.; together we discussed the history of the Human Genome Project. A video recording of that discussion is also available

All the best,


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Adam Phillippy appointed founding director of new Center for Genomics and Data Science Research

Adam Phillippy


In 2022, NHGRI convened a Blue Ribbon Panel that spent the better part of a year examining the successes, opportunities, and challenges of the institute’s Intramural Research Program (IRP), with an eye towards providing expert advice for keeping the program at the forefront of genomics over the next decade. Among the many difficult questions discussed was “how can NHGRI’s IRP be a recognized leader in genomic data science?"

Ongoing advances in genomics tools and techniques are leading to the generation of increasingly complex datasets. To keep up, researchers need to develop and use more powerful computational approaches for deciphering biological knowledge from large-scale genomic datasets. For example, new computational-based strategies are needed to connect genome variation to genome function in both basic and clinical research studies.

After a series of lively discussions and brainstorming sessions carried out over months, the Blue Ribbon Panel’s recommendations included the creation of a new program focused on genomic data science, which directly led to the establishment of the NHGRI Center for Genomics and Data Science Research (CGDSR). The CGDSR actually represents a reconfiguration of the previously existing Computational and Statistical Genomics Branch to meet the growing challenges and opportunities for using computational approaches to study genomes.

Researchers in the CGDSR will develop and apply computational approaches to analyze large sets of genetic and genomic data, with an emphasis on identifying the genomic contributions to human disease. The group will serve as a focal point at NIH for analyzing genomic data in laboratory and clinical studies.

NHGRI recently appointed Adam Phillippy, Ph.D., as the founding director of the CGDSR. Dr. Phillippy, a senior investigator and head of the Genome Informatics Section within the NHGRI IRP, has been at NIH since 2015. His research group develops and uses computational methods to sequence and analyze genomes. Notable achievements of his research group include playing a pivotal role in generating the first truly complete human genome sequence as part of the Telomere-to-Telomere Consortium. As a major participant of the international Human Pangenome Reference Consortium, Dr. Phillippy also contributed to the first draft of the human pangenome, a more complete and sophisticated collection of genome sequences that captures significantly more human diversity.

Prior to joining NHGRI, Dr. Phillippy worked at the National Bioforensic Analysis Center, where he founded and led a bioinformatics group. During that time, his group developed genomic methods and analyzed DNA sequence data for the Federal Bureau of Investigation. Before that, he received a B.S. in computer science from Loyola University Maryland and a M.S. and a Ph.D. in computer science from the University of Maryland, College Park.

As the CGDSR Director, Dr. Phillippy provides scientific and administrative leadership, fosters a collaborative and inclusive research environment, and ensures appropriate mentorship for researchers. Under his stewardship, data science and computational biology will grow within the NHGRI IRP in the coming years, consistent with developments across many areas of biomedical research.

NHGRI meeting considers current state of genomics and population screening

Genomic Medicine XV Meeting - humans lined up in the shape of a DNA double-helix


In November 2023, NHGRI hosted its 15th Genomic Medicine Meeting, entitled Genomic Medicine XV: Genomics and Population Screening. The meeting discussed the current state of population genomic screening in the U.S. as well as barriers to and opportunities for expanded population screening. These include impacts on clinical practice and outcomes, available genomic screening technologies and costs, issues with false-positive results, and future research directions. One specific topic focused on the additional research needed for the healthcare system to be equipped for increased population screening. The meeting also covered the roles that geneticists and genetic counselors may play in implementing population screening as well as the potential roles of telehealth and artificial intelligence. The executive summary, full summary, and recording from the meeting are now available.

Annual review highlights ten notable genomic medicine publications in 2023


Genomic Variation


The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research published its annual review in the American Journal of Human Genetics, which highlighted the year’s 10 most significant advances in genomic medicine research. These advances involve the use of patients’ individual genomic variant information in clinical decision-making and demonstrate impact of direct clinical implementation on health outcomes or behaviors. Of note, papers about resources that support genomic medicine research made up half of the 34 papers that the Working Group recognized as notable accomplishments in 2023. These resources reflect the growing body of evidence that supports the feasibility and practical value of using genomic information for screening, diagnosis, and risk assessment in healthcare.

Global Biodata Coalition designates second set of core data resources

Global Biodata Coalition (GBC)


The Global Biodata Coalition (GBC) recently announced its second set of designated Global Core Biodata Resources (GCBRs) — specifically, GBC designated 15 data resources that were found by an international peer-review panel to be critical for the worldwide life sciences and biomedical research community. The GBC was established in 2020 as a group of international research funders working to understand the global biodata resource ecosystem and to facilitate internationally coordinated, sustainable, and streamlined mechanisms to support biodata resources. GCBRs provide free and open access to their data resources, which are used extensively by the research community world-wide. Resources with this designation have a reputation of being well-established, comprehensive, and authoritative, thereby providing high scientific quality and a professional standard of service. View the complete list of designated GCBRs.

NHGRI Education and Community Involvement Branch participates in Smithsonian’s Afrofuturism STEAM Day

Student performing chemistry experiments in the classroom


Continuing NHGRI’s partnership with the Smithsonian’s National Museum of African American History and Culture, the Education and Community Involvement Branch (ECIB) recently participated in Afrofuturism STEAM (science, technology, engineering, art and math) Day, complementing the current exhibition “Afrofuturism: A History of Black Futures.” Piloting a new ECIB-designed hands-on activity that demonstrates to participants how messages are encoded in DNA, the ECIB staff and volunteers interacted with over 400 attendees. These STEAM Day attendees included elementary, middle, and high school students as well as the students’ parents and local educators.

NHGRI searches for TiDHE director

Action agenda


NHGRI is beginning its search for a director for the Training, Diversity, and Health Equity (TiDHE) Office. The TiDHE Office is a critical arm in NHGRI’s efforts to achieve the goals established in the institute’s 2020 Action Agenda for Building a Diverse Genomics Workforce. The office’s recent activities have included: founding Diversity Centers for Genome Research to increase access to genomics research opportunities for students; publishing a toolkit for assessing the efficacy of genomics training programs; and hosting webinars and other events related to related to diversity, health equity, and genomics. The director will oversee and build upon these activities in addition to other duties, such as advising the NHGRI director and other institute staff on matters related to diversity and health equity. The director will succeed Vence Bonham, J.R., J.D., who has served as TiDHE’s acting director in addition to his roles as the NHGRI acting deputy director and an associate investigator in NHGRI’s Social and Behavioral Research Branch. Applications are due on February 9. Please refer to the advertisement on genome.gov for instructions on how to apply.

Genomic Research Spotlight

Mouse genome rewriting and tailoring of three important disease loci
Zhang et al.
Nature 2023 Nov; 623, 423–431 PMC10632133


As genome-editing technologies improve, new methods are required to make large-scale genomic edits. Such technologies would be particularly useful for studying regulatory sequences and other portions of the genome that span large intervals. In a recent study, researchers devised a new and efficient method for making large-scale edits to the genomes of mouse embryonic stem cells. The researchers dubbed their new method mSwAP-In. To demonstrate the use of this method, the researchers developed a mouse model by editing a regulatory region of the angiotensin-converting enzyme 2 (ACE2) gene, which encodes the cellular receptor for SARS-CoV-2. In the edited mice, expression patterns of ACE2 were similar to those in humans and therefore this mouse model presented a more human-like model of infection. Overall, the study showed the feasibility of rewriting large sections of the genome for enhanced disease modelling.


This research was supported by a grant from the NHGRI Extramural Research Program to Jef Boeke, Ph.D., who is a professor at the New York University School of Medicine, under the Centers for Excellence in Genome Science grant program (PAR-22-107).

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Upcoming Videocasts

Genomics and Health Disparities Lecture Series: Genevieve Wojcik — January 11

NHGRI Division of Intramural Research Seminar Series: Scott Edwards — January 18

Genomics Videos

Genomic Medicine XV: Genomics and population screening

Advances in the genetic architecture of complex human traits 

Informational session on the renewed ELSI funding opportunities

National Association of Scholars’ Unlocking the Genome: The Human Genome Project

NHGRI Division of Intramural Research seminar series: Marius Wernig

Funding Opportunities

Stephen I. Katz early stage investigator research project grant 

Advancing genomic technology development for research and clinical application

Supplements for research and capacity building efforts related to bioethics

Solutions to enable regional genomic medicine eConsult services — R41/R42 and  R43/R44

Research on the impact of and methods for implementing regional genomic medicine eConsult services

NHGRI funding opportunities overview

Funding News

Discovery of the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research Program

NIH and NHGRI News

NHGRI selects Adam Phillippy as first director of new Center for Genomics and Data Science Research

NIH statement on new FDA-approved gene therapies for sickle cell disease

NHGRI searches for new TiDHE director

Genome: Unlocking Life's Code December 2023 newsletter

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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: January 11, 2024