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Your search for “Rare Diseases” returned 232 results

Study Shows Certain Gastrointestinal Tumors Associated with Higher Mortality

April 5, 2016

Researchers at University of California, San Diego School of Medicine have determined that certain gastrointestinal stromal tumors (GISTs) are more deadly than previously reported in medical literature. Findings are published online in the Journal of Gastrointestinal Surgery.

Same Treatment Tested for Kids with Kawasaki Disease and Rare COVID-19 Reaction

October 26, 2021

Researchers at University of California San Diego School of Medicine tested the same treatment for kids with Kawasaki disease and rare COVID-19 reaction.

Largest Study of its Kind Finds Rare Genetic Variations Linked to Schizophrenia

November 22, 2016

…increase schizophrenia risk are rare, making it difficult to study their role. To overcome this, the Psychiatric Genomics Consortium, an international team led by Jonathan Sebat, PhD, at University of California San Diego School of Medicine, analyzed the genomes of more than 41,000 people in the largest study of its…

Mutant Protein in Muscle Linked to Neuromuscular Disorder

April 16, 2014

…atrophy (SBMA) is a rare inherited neuromuscular disorder characterized by slowly progressive muscle weakness and atrophy. In a new study published in the online issue of Neuron, a team of scientists at the University of California, San Diego School of Medicine say novel mouse studies indicate that mutant protein levels…

UC San Diego Health Researchers Join Pancreatic Cancer “Dream Team”

November 9, 2015

In an effort to advance research on one of the deadliest forms of cancer, University of California, San Diego School of Medicine researchers Andrew Lowy, MD, and Tannishtha Reya, PhD, have been recruited for their expertise in preclinical modeling, clinical trials and stem cell biology to join a “dream team”…

A New Gene-Editing System Tackles Complex Diseases

May 21, 2024

Current methods to model or correct mutations in live cells are inefficient, especially when multiplexing — installing multiple point mutations simultaneously across the genome. Researchers from the UC San Diego have developed new, efficient genome editing tools called multiplexed orthogonal base editors (MOBEs) to install multiple point mutations at once.…

First in Nation: UC San Diego Health Offers Treatment for Hereditary Amyloidosis

August 18, 2022

New medication now available at UC San Diego Health allows for less frequent visits for patients, helping improve quality of life.

Simplifying RNA Editing for Treating Genetic Diseases

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.

Scientists Link Evolved, Mutated Gene Module to Syndromic Autism

January 26, 2012

A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism.

Center for AIDS Research Funding Renewed for an Old and On-Going Fight

April 16, 2018

The National Institute of Allergy and Infectious Diseases has awarded a five-year, $15 million grant to the San Diego Center for AIDS Research (CFAR) https://cfar.ucsd.edu at UC San Diego, renewing support that extends back to an original establishing grant in 1994—the height of the AIDS epidemic.

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