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Your search for “Rare Diseases” returned 233 results

How Infectious Disease May Have Shaped Human Origins

June 4, 2012

An international team of researchers, led by scientists at the University of California, San Diego School of Medicine, suggest that inactivation of two specific genes related to the immune system may have conferred selected ancestors of modern humans with improved protection from some pathogenic bacterial strains, such as Escherichia coli…

Building a Better Brain-in-a-Dish, Faster and Cheaper

September 6, 2018

Writing in the current online issue of the journal Stem Cells and Development, researchers at University of California San Diego School of Medicine describe development of a rapid, cost-effective method to create human cortical organoids directly from primary cells.

Zika Virus Targets and Kills Brain Cancer Stem Cells

September 5, 2017

In developing fetuses, infection by the Zika virus can result in devastating neurological damage, most notably microcephaly and other brain malformations. In a new study, published today in The Journal of Experimental Medicine, researchers at the University of California San Diego School of Medicine and Washington University School of Medicine…

Genetic Changes that Cause Autism Are More Diverse Than Previously Thought

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…

Supplementation with Amino Acid Serine Eases Neuropathy in Diabetic Mice

January 25, 2023

Working with mice, Salk Institute researchers, in collaboration with the University of California San Diego, have identified another factor contributing to diabetes-associated peripheral neuropathy: altered amino acid metabolism.

SARS-CoV-2 Detectable — Though Likely Not Transmissible — on Hospital Surfaces

June 9, 2021

UC San Diego School of Medicine researchers discovered that SARS-CoV-2, or at least its genetic signature, abounds on hospital surfaces, often co-locating with one particular type of bacteria.

Friedmann Recognized for Pioneering Gene Therapy Research

January 29, 2015

…therapy for human genetic disease?” Though posed as a question, Friedmann and Roblin firmly believed the answer was yes, citing emergent thinking, new studies and growing data that suggested “good DNA” could be used to replace defective DNA in people with inherited conditions. “In our view,” they wrote, “gene therapy…

Researchers Studying Century-Old Drug in Potential New Approach to Autism

May 26, 2017

In a small, randomized Phase I/II clinical trial (SAT1), researchers at University of California San Diego School of Medicine say a 100-year-old drug called suramin, originally developed to treat African sleeping sickness, was safely administered to children with autism spectrum disorder (ASD), who subsequently displayed measurable, but transient, improvement in…

Life-Saving Trip Results in Multi-Organ Transplantation for Father

April 19, 2023

Khristiane “Frances” Reyes credits a trip to the Philippines and a multidisciplinary team at UC San Diego Health for saving his life.

Charting Shots

October 7, 2021

…in prevention, and a disease dodged is harder to count, though the World Health Organization estimates 2.5 million deaths are prevented each year due to vaccinations. In the time of COVID, the importance of vaccines has never been more obvious or pressing. The SARS-CoV-2 virus has killed more than 4.5…

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