Largest Study of its Kind Finds Rare Genetic Variations Linked to Schizophrenia
November 22, 2016
…in Nature Genetics, reveals regions of the genome where mutations increase schizophrenia risk.
Your search for “DNA Mutations” returned 153 results
Novel Stem Cell-Derived Model Created of Inflammatory Neurological Disorder
August 10, 2017
An international team of scientists, led by University of California San Diego School of Medicine researchers, has created a human stem cell-based model of a rare, but devastating, inherited neurological autoimmune condition called Aicardi-Goutieres Syndrome (AGS). In doing so, the team was able to identify unusual and surprising underlying genetic…
Old Drugs Find New Target For Treating Brain Tumor
November 18, 2011
…South Korea, say they have identified a novel gene mutation that causes at least one form of glioblastoma (GBM), the most common type of malignant brain tumor.
Organoids Reveal Similarities Between Myotonic Dystrophy Type 1 and Rett Syndrome
June 29, 2022
Using brain organoids, UC San Diego researchers discover mutational commonalities between muscular dystrophy type 1 and Rett syndrome, suggesting the potential of a similar treatment for both.
When Ancient Fossil DNA Isn’t Available, Ancient Glycans May Help Trace Human Evolution
September 11, 2017
…million-year-old animal fossil from Kenya, under conditions where ancient DNA does not. While ancient hominin fossils are not yet available for glycan analysis, this proof-of-concept study, published September 11 in Proceedings of the National Academy of Sciences, sets the stage for unprecedented explorations of human origins and diet.
UC San Diego Scientists Create Device for Ultra-Accurate Genome Sequencing of Single Human Cells
October 31, 2017
Interdisciplinary team of UC San Diego researchers develop a way to very accurately sequence and haplotype genomes from single human cells. The breakthrough appears in the Proceedings of the National Academy of Sciences.
New Genetic Analysis Tool Tracks Risks Tied to CRISPR Edits
March 26, 2024
While CRISPR has shown immense promise as a next-generation therapeutic tool, the gene editing technology’s edits are still imperfect. Researchers have developed a new genetic system to test and analyze CRISPR-based DNA repair and related risks from unintended but harmful “bystander” edits.
Broad Spectrum of Autism Depends on Spectrum of Genetic Factors
June 2, 2022
UC San Diego researchers report significant progress in understanding how the combined effects of rare mutations and common genetic variation in determining whether a child will develop ASD and its consequential effects.
Extra Fingers and Hearts: Pinpointing Changes to Our Genetic Instructions That Disrupt Development
February 6, 2024
UC San Diego scientists have shown that they can now predict which single-letter changes to the DNA within our genomes will alter genetic instructions and disrupt development, leading to changes such as the growth of extra digits and hearts.
Scientists Assemble a Biological Clock in a Test Tube to Study How it Works
October 8, 2021
As reported in Science, researchers from three UC campuses reconstituted the circadian clock of cyanobacteria in a test tube, enabling them to study rhythmic interactions of clock proteins in real time and understand how these interactions enable the clock to exert control over gene expression.
