June 27, 2016
Researchers at University of California San Diego School of Medicine have found that a likely cause of inflammatory myofibroblastic tumors is deficiency in nonsense-mediated RNA decay (NMD), a system cells use to control which genes are activated.
October 20, 2016
…them are caused by mutations that affect proteins that bind RNA, a type of genetic material. University of California San Diego School of Medicine researchers studied several ALS cases with a mutation in a RNA-binding protein known as hnRNP A2/B1. In the study, they describe how damage to this protein…
August 18, 2020
What are the boundaries of natural selection? Research published in PNAS shows that even natural selection has a tough time optimizing performance simultaneously across multiple components of the cell. They call the concept “evolutionary stalling.”
May 8, 2015
Therapies that specifically target mutations in a person’s cancer have been much-heralded in recent years, yet cancer cells often find a way around them. To address this, researchers at University of California, San Diego School of Medicine and Moores Cancer Center identified a promising combinatorial approach to treating glioblastomas, the…
November 14, 2013
…specifically and precisely parse the roles of a key mutated protein in causing familial Alzheimer’s disease (AD), discovering that simple loss-of-function does not contribute to the inherited form of the neurodegenerative disorder.
March 24, 2016
The types of gene mutations that contribute to autism are more diverse than previously thought, report researchers at University of California, San Diego School of Medicine in the March 24 online issue of The American Journal of Human Genetics. The findings, they say, represent a significant advance in efforts to…
June 14, 2016
…have developed an electrical graphene chip capable of detecting mutations in DNA. Researchers say the technology could one day be used in various medical applications such as blood-based tests for early cancer screening, monitoring disease biomarkers and real-time detection of viral and microbial sequences.
July 1, 2022
Scientists have developed a CRISPR-based technology that could offer a safer approach to correcting genetic defects. The new “soft” CRISPR system makes use of natural DNA repair machinery, providing a foundation for novel gene therapy strategies with the potential to cure genetic diseases.
October 19, 2021
An international team of researchers has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases.
July 30, 2020
Researchers at UC San Diego School of Medicine and Moores Cancer Center report that an investigational drug candidate called tipifarnib showed promise in treating key recurring mutation in head and neck cancers.
