November 9, 2015
…expand the types of chromosomal abnormalities that noninvasive prenatal testing (NIPT) can detect. The study, published November 9 by Proceedings of the National Academy of Sciences, uses a semiconductor sequencing platform to identify small chromosomal deletions or duplications, such as occur in Cri du Chat Syndrome and DiGeorge Syndrome, with…
February 21, 2017
A paradigm-changing study in the journal Nature by cancer researchers and computer scientists at UC San Diego and other institutions found that short fragments of circular DNA that encode cancer genes are far more common in cancer cells than previously believed.
March 16, 2016
About half of children born with Jacobsen syndrome, a rare inherited disease, experience social and behavioral issues consistent with autism spectrum disorders. Researchers at University of California, San Diego School of Medicine and collaborators developed a mouse model of the disease that also exhibits autism-like social behaviors and used it…
May 8, 2024
Spina bifida is the most common structural disorder of the human nervous system. The causes are largely unknown, but University of California San Diego researchers led a study that points to a link involving a chromosomal microdeletion — and also underscores the value of folic acid as a preventive measure.
July 13, 2022
Mitochondria are self-contained organelles (they possess their own mini-chromosome and DNA) residing within cells and are charged with the job of generating the chemical energy needed to fuel functions essential to life and well-being.
May 11, 2016
In a massive analysis of DNA samples from more than 13,000 U.S. soldiers, scientists have identified two statistically significant genetic variants that may be associated with an increased risk of post-traumatic stress disorder (PTSD), an often serious mental illness linked to earlier exposure to a traumatic event, such as combat…
January 13, 2016
In the first clinical trial of its type, researchers at University of California, San Diego School of Medicine and the Alzheimer’s Disease Cooperative Study (ADCS), in collaboration with AC Immune, a biotechnology company based in Switzerland, will test the safety and tolerability of an immunotherapy vaccine that targets Alzheimer’s disease-like…
April 26, 2021
A multi-institutional team of researchers, led by UC San Diego School of Medicine and Moores Cancer Center, has identified both the genetic abnormalities that drive pre-cancer cells into becoming an invasive type of head and neck cancer and patients who are least likely to respond to immunotherapy.
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.
September 17, 2015
More than five million Americans are living with Alzheimer’s disease (AD). Of them, 400,000 also have Down syndrome. Both groups have similar looking brains with higher levels of the protein beta amyloid. In fact, patients with Down syndrome develop the abnormal protein at twice the rate. Results of a pilot…
