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.
May 1, 2023
When alumni Michaelle Jinette and Kevin Witt’s fourth son Tristan was diagnosed with the rare KCNH1 genetic mutation, the couple raised money, collaborated with scientific partners, and initiated rare disease research on behalf of their child and the 50 others like him in the world.
September 21, 2015
Albert La Spada, MD, PhD, professor of pediatrics, cellular and molecular medicine and neurosciences at University of California, San Diego School of Medicine, has received a 2015 Harrington Scholar award to advance his work on a therapy for Spinocerebellar ataxia type 7 (SCA7), a rare but devastating neurological disorder that…
December 23, 2019
Spontaneous mutations in male sperm are linked to development of autism spectrum disorder. Researchers have created a way to measure mutations and estimate risk of ASD in future children. If developed into a clinical test, the method could be a useful predictive tool in genetic counseling.
September 13, 2017
In a new study, published this month in Cancer Discovery, University of California San Diego School of Medicine researchers report that approximately half of lung and pancreatic cancers that originate with a KRAS mutation become addicted to the gene as they progress.
February 10, 2022
New research led by bioengineers at the University of California San Diego could make it much simpler to repair disease-causing mutations in RNA without compromising precision or efficiency. The new RNA editing technology holds promise as a gene therapy for treating genetic diseases.
October 10, 2013
…a question: Do genetic mutations in the heart, mutations that are common in humans as we age and that are correlated with poor heart function, also contribute to a shortened lifespan? To help find the answer, Engler turned to a group of biology students at High Tech High School in…
March 18, 2015
Researchers at the San Diego Supercomputer Center (SDSC) and the Moores Cancer Center at the University of California, San Diego, have described for the first time the molecular mechanism of cancer development caused by well-known “resistance” mutations in the gene called epidermal growth factor receptor (EGFR).
December 5, 2013
…cancer cells resist therapy by dialing down the gene mutation targeted by drugs, then re-amplify that growth-promoting mutation after therapy has stopped.
November 28, 2022
UC San Diego researchers identify the PKCα enzyme as a promising therapeutic target in Alzheimer’s disease; a mutation that increases its activity led to biochemical, cellular and cognitive impairments in mice.
