Michelle Hastings, PhD, director of the Center for Genetic Diseases, is leading an NIH-funded team in the study of a new therapeutic approach for CLN3 Batten disease in children. Study published July 27 in Nature Medicine.
Researchers at the MPI of Immunobiology and Epigenetics in Freiburg, Germany, and the University of Washington in Seattle, USA, for the first time, investigate the phenomenon of sexual parasitism in deep-sea anglerfish. The scientists show that this very rare mode of reproduction is associated with the loss of adaptive immunity. In the course of evolution, however, the animals have reorganized their immune systems and only survive with the help of their innate immunity.
Of the CRISPR-Cas9 tools created to date, base editors have gotten lots of attention because of their seemingly simple editing: they neatly replace one nucleic acid with another, in many cases all that should be needed to fix a genetic disease. UC Berkeley scientists have now determined the structure of the latest base editor as it swaps out nucleic acids, showing why it can go off target but also how it can be improved.
Jared Talbot is part of a 32-member international research team that identified a gene that, when altered, can cause bent fingers and toes, clubfoot, scoliosis, and short stature. The team discovered that partial loss of the protein coding gene MYLPF (myosin light chain, phosphorylatable, fast skeletal muscle) results in a disorder called distal arthrogryposis (DA) that's present at birth.
Florida State University Professor of Biological Science David Gilbert is using the latest information about the human genome as a guide to better understand cancer.
Researchers at UC San Diego School of Medicine are among the contributors to a package of 10 studies in the journal Nature, describing the latest results from the ongoing Encyclopedia of DNA Elements project, a worldwide effort led by the NIH to understand how the human genome functions.
UMass Medical School scientists Jill Moore, PhD, Zhiping Weng, PhD, and MD/PhD students Michael Purcaro and Henry Pratt are lead authors on the latest publication of data from the ambitious ENCODE project to annotate the human genome.
An international consortium of approximately 500 scientists, led in part by researchers at Cold Spring Harbor Laboratory, reports on the completion of Phase 3 of the ENCODE project, providing a resource for scientists to understand how genetic variation shapes human health and disease.
More than 200 genes with novel and known roles in glioblastoma - the most aggressive type of brain cancer - offer promising new drug targets. Researchers from the Sanger Institute and their collaborators engineered a new mouse model to show for the first time how a mutation in the well-known cancer gene, EGFR initiates glioblastoma, and works with a selection from more than 200 other genes to drive the cancer.
By studying RNA-binding proteins, a research consortium known as ENCODE (Encyclopedia of DNA Elements) has identified genomic sites that appear to code for RNA molecules that influence gene expression.