Adam Phillippy appointed founding director of new Center for Genomics and Data Science Research
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,
In This Issue
- Adam Phillippy appointed founding director of new Center for Genomics and Data Science Research
- NHGRI meeting considers current state of genomics and population screening
- Annual review highlights ten notable genomic medicine publications in 2023
- Global Biodata Coalition designates second set of core data resources
- NHGRI Education and Community Involvement Branch participates in Smithsonian’s Afrofuturism STEAM Day
- NHGRI searches for TiDHE director
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).
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: January 11, 2024