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NHGRI appoints James Thomas as new NIH Intramural Sequencing Center Director

Eric Green, M.D., Ph.D. October 03, 2024

Last month, I was delighted to give a convocation address to the entering class at Spelman College in Atlanta, Georgia. Since most of the students in attendance are not majoring in the sciences, I focused on how genomics is increasingly relevant in our everyday lives. It was such an honor to give this lecture in the Sisters Chapel, a historic site for many reasons including being the place where the late Dr. Martin Luther King, Jr. lay in state for two days in 1968.

I was also excited to speak at University College London, hosted by my former postdoctoral fellow, Dr. Aida Andres. My main reason for traveling to London was for the Global Biodata Coalition meeting, which assembled a group of international research funders to discuss the many challenges of sustaining critical data resources needed for life science and biomedical research.

Many of us at NHGRI are gearing up for the American Society of Human Genetics (ASHG) Annual Meeting, which will take place in Denver, Colorado in early November. This meeting convenes genetics and genomics researchers from all over the world, and many NHGRI scientists, program directors, and other staff will be in attendance and presenting their research. Our institute will also have a booth on the exhibit floor, so please stop by!

Finally, applications have just opened for the joint ASHG-NHGRI Genomics and Public Service Fellowship Program. This program provides several fellowships at the graduate and postbaccalaureate levels, and these fellowships are an excellent opportunity to gain experience in genomics policy, education, communications, or program management. Application information is available on the ASHG website. Applications close in January.

 

All the best,

Eric Green signature

NHGRI appoints James Thomas as new NIH Intramural Sequencing Center Director

James Thomas

 

NHGRI recently appointed James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC). NISC provides high-throughput DNA sequencing services to the NIH intramural research community, enabling powerful genomics studies across institutes and centers.  

“For more than 25 years, NISC has played an integral role in NHGRI and other NIH intramural research projects,” said Charles Rotimi, Ph.D., NHGRI’s scientific director. “Dr. Thomas’ vision for NISC will further expand the institute’s sequencing resources and propel robust, cutting-edge research.” 

Dr. Thomas obtained his B.A. in biology from Washington University in St. Louis and his Ph.D. in genetics from Case Western Reserve University. An interest in comparative genomics first brought him to NHGRI as a postdoctoral fellow in 1997, the same year that NISC was established.

Following completion of his postdoctoral fellowship, Dr. Thomas joined the faculty of Emory University School of Medicine, where he was an assistant professor in the Department of Human Genetics and led a NIH-funded research group focusing on comparative genomics. During this time, Dr. Thomas mentored many graduate students and postdoctoral fellows, supporting their energy and passion for genetics and genomics.  

In 2011, Dr. Thomas returned to NHGRI as the deputy director of NISC. He helped the center keep pace with the rapidly evolving landscape of DNA sequencing technologies. During his tenure in this role, NISC supported more than 100 NIH research projects, involving both basic and clinical research. He has also most recently served as the acting director of NISC. 

“You feel like you’re in a constant upswing with genomic technologies that keep building on themselves, and we’re now able to do things that we could never have imagined in the past,” Dr. Thomas said, speaking of his time as NISC deputy director. “It makes me excited for what will happen in the future.”

As the NISC director, Dr. Thomas will oversee the implementation of new DNA sequencing technologies and ensure NIH intramural investigators have access to cutting-edge genomic methods and specialized protocols to meet their research needs. 

“It always comes back to supporting the researchers,” Dr. Thomas said. “In my position, I get to see their excitement about having access to the latest, most efficient, and cost-effective genomic technologies. We give them a spark to energize their research.” 

Dr. Thomas began his appointment as NISC director on September 22, 2024.  

NHGRI establishes three new Diversity Centers for Genome Research

Diversity Centers in Genome Research

 

NHGRI is funding three new Diversity Centers for Genome Research. These new centers join a consortium launched last year to support cutting-edge genomics research at minority-serving institutions (MSIs). These institutions have a well-established record of educating and training students from backgrounds historically underrepresented in science. The Diversity Centers for Genome Research Consortium aims to expand the research capabilities at MSIs to help create a more diverse genomics workforce. Additionally, many MSIs carry out essential research for addressing health disparities, and this consortium of centers offers an opportunity to integrate genomics more deeply into these research efforts. Joining the three centers funded last year, the new Diversity Centers for Genome Research are being established at centers at Tuskegee University and Morehouse School of Medicine, two historically Black universities, and Florida International University, a Hispanic-serving institution and one of the largest public universities in the United States. More information about each center and the growing consortium can be found on NHGRI’s website, genome.gov.

NIH awards $27M to establish network of learning health systems

Genomics-enabled Learning Health System (gLHS)

 

NHGRI and the National Cancer Institute (NCI) are jointly awarding $27 million to create the Genomics-enabled Learning Health System (gLHS) Network. Learning health systems are a type of clinical infrastructure that bridges research and patient care by analyzing patient data to improve future medical care. As more and more genomic data are available in clinical settings, learning health systems present an opportunity to translate this evidence quickly and directly into better care for patients. The new network consists of six clinical sites and one coordinating center, all at hospitals with currently operating learning health systems. Each clinical site will propose a genomics project, such as implementing testing for hereditary diseases or using genomic information to select the most suitable medication for each patient. A major aim of the gLHS Network is to create generalizable knowledge and genomic medicine practices so that data collected at each clinical site can improve patient care more broadly. Beyond exchanging information within the network, the coordinating center will orchestrate sharing the network’s tools and resources with the greater clinical and scientific communities. Learn more about the gLHS Network in a recent announcement on genome.gov

NHGRI launches new training modules for the entry-level workforce

Diversity Silhouette

 

In collaboration with NCI, NHGRI is launching the Entry-Level Modules (ELM) for Training the Genomics Research Workforce program. The associated awards provide funding to develop educational modules about genomics aimed at the entry-level workforce, which is broadly defined as positions that do not require a bachelor’s degree. This includes many assistant and technical roles in the medical and scientific fields. Though genomics is becoming increasingly relevant to this sector of the workforce, many people in these positions have never received genetics- or genomics-related training. By making genomics training accessible to the entry-level workforce, the ELM awards aim to provide the background necessary for these professionals to engage with intersections of their work and genomics. Additionally, these modules will bring a variety of voices to the table and support the growth of a more diverse genomics workforce, as a high percentage of people in the entry-level workforce come from backgrounds underrepresented in the sciences. This year’s awards will fund initiatives to train community health workers, associates’ degree seekers, laboratory and medical assistants, pharmacy technicians, phlebotomists, and EMTs.

ISCC-PEG promotes genomics education for nurse practitioners

 

healthcare professionals

 

The Nursing Genomics Project Group, a sub-group of the Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG), recently published a new paper highlighting resources to help nurse practitioners integrate genomics into patient care, as well as resources for faculty who train nurse practitioners on how to include genomics in their curricula. As the fastest growing group of healthcare providers, nurse practitioners represent an important educational audience for ISCC-PEG. Currently, many nurse practitioners have very limited genomics-related training. Increasing access to genomics knowledge among nurse practitioners is an important step to expanding access to genomic medicine and precision health beyond large, academic medical centers. Additional resources created by the Nursing Genomics Project Group are available on genome.gov, including a FAQvideos, and opportunities to join inter-professional collaborations facilitated by NHGRI.  

Genomics Research Spotlight

Genome-wide detection of somatic mosaicism at short tandem repeats
Sehgal, et al.
Bioinformatics, August 2024, PMID: 39078205

 

Imagine a vibrant mosaic in which every tile is unique. While the cells in our bodies largely share the same genome, some cells can have genomic differences. This phenomenon is called somatic mosaicism, and these genomic differences start forming in the earliest moments of life and also accumulate as we age. Somatic mosaicism has been linked to a range of diseases, including leukemia, lymphomas, and other types of cancer, but these variations among cells remain challenging to detect. In a recent publication, researchers from the University of California, San Diego, introduced a new tool called prancSTR, which is designed to help researchers identify mosaicism in cells. Specifically, the tool is useful for identifying somatic mosaicism at small, repeating segments of DNA called short tandem repeats. The researchers applied the tool to study 460 whole-genome sequences, revealing hundreds of mosaic short tandem repeats. These types of repeats have been linked to genetic predispositions for certain cancers, and being able to detect mosaicism at these repeats could underly future research into how mosaicism at these sequences contributes to disease and inform the development of new genetic testing methods. 

 

This research was funded by the NIH with a grant (PA-20-185) to Melissa Gymrek, Ph.D., who is an associate professor at the University of California, San Diego; to learn more about NHGRI funding opportunities, please visit our website.

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NHGRI appoints James Thomas as new director of NIH Intramural Sequencing Center

NIH awards $27M to establish new network of genomics-enabled learning health systems

 

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Last updated: October 2, 2024