December 20, 2012
…has discovered that “random” mutations in the genome are not quite so random after all. Their study, to be published in the journal Cell on December 21, shows that the DNA sequence in some regions of the human genome is quite volatile and can mutate ten times more frequently than…
August 12, 2021
UC San Diego researchers have described a new method for observing and counting mutations in sperm, and how to use this data to predict the likely impact of these mutations on future children.
August 26, 2020
Molecules known as tRNAs are often overlooked in study of disease processes. Researchers have now found that a mutation in a tRNA gene called n-Tr20—expressed only in the brain—can disrupt the landscape of entire cells, leading to chain reactions that alter brain function and behavior.
February 9, 2022
UC San Diego researchers have identified a previously unrecognized key player in cancer evolution: clusters of mutations occurring at certain regions of the genome. These mutation clusters contribute to the progression of about 10% of human cancers and can be used to predict patient survival.
July 27, 2020
Researchers at Ludwig Institute for Cancer Research and University of California San Diego School of Medicine report that inhibiting a key enzyme caused human cancer cells associated with two major types of breast and ovarian cancer to die and in mouse studies reduced tumor growth.
September 12, 2017
…determine whether certain hard-to-study mutations in the human genome, called short tandem repeats or microsatellites, are likely to be involved in harmful conditions. The team, which also includes scientists from the New York Genome Center, Harvard University, and the Massachusetts Institute of Technology, details their findings in the Sept. 11…
June 30, 2016
…Cancer Center discovered that mutation hotspots known as kataegis are a positive marker in breast cancer — patients with kataegis have less invasive tumors and better prognoses. The study, published June 30 in Cell Reports, also suggests kataegis status could help doctors determine treatment options that might work best for…
February 18, 2015
Scientists at the University of California, San Diego School of Medicine have found that mutations that cause autism in children are connected to a pathway that regulates brain development.
July 21, 2016
…number of cancer gene mutations that can be specifically targeted with personalized therapies, researchers at University of California San Diego School of Medicine and Moores Cancer Center looked for combinations of mutated genes and drugs that together kill cancer cells. The study, published July 21 in Molecular Cell, uncovered 172…
February 27, 2018
…human metabolism. Researchers used the tool to map disease-related mutations on proteins and also probed how genes and proteins change in response to certain drugs. The work provides a better understanding of disease-causing mutations and could enable researchers to discover new uses for existing drug treatments.
