NHGRI appoints James Thomas as new NIH Intramural Sequencing Center Director
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,
In This Issue
- NHGRI appoints James Thomas as new NIH Intramural Sequencing Center Director
- NHGRI establishes three new Diversity Centers for Genome Research
- NIH awards $27M to establish network of learning health systems
- NHGRI launches new training modules for the entry-level workforce
- ISCC-PEG promotes genomics education for nurse practitioners
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.
About The Genomics Landscape
A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.
Last updated: October 2, 2024