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Your search for “rare diseases” returned 212 results

Major Gift Focuses Efforts on a Rare, but Devastating, Genetic Eye Disease

December 15, 2021

Nixon Foundation funds effort to study and treat macular dystrophy at Shiley Eye Institute. Currently, there are no effective treatments to slow or prevent genetic condition.

UC San Diego Establishes Five New Endowed Faculty Chairs

April 4, 2013

…their research of hereditary diseases, eye diseases and mitochondrial and metabolic diseases. During their lifetimes, the Hildyards generously and anonymously supported UC San Diego. Ben Hildyard was a civil engineer and owner of BGH Engineering. Wanda Hildyard worked as an executive secretary with several federal engineering agencies before becoming a…

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.

UC San Diego Chancellor’s Medal and Lifetime Legacy Award Recipients Announced

November 28, 2023

The University of California San Diego announced the recipients of the 2023 Chancellor’s Medal and the Lifetime Legacy Award, who have all helped advance health care and medicine in unique, impactful ways.

Bioengineering Professor Christian Metallo Receives 2017 Camille Dreyfus Teacher-Scholar Award

May 11, 2017

Christian Metallo, a bioengineering professor at the University of California San Diego, has been named a Camille Dreyfus Teacher-Scholar. Metallo is one of 13 faculty members nationwide to receive the honor from the Camille and Henry Dreyfus Foundation.

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.

Compound Discovered at Sea Shows Potency against Anthrax

July 17, 2013

A team led by William Fenical at Scripps Institution of Oceanography at UC San Diego has discovered a new chemical compound from an ocean microbe in a preliminary research finding that could one day set the stage for new treatments for anthrax and other ailments such as methicillin-resistant Staphylococcus aureus…

Potential Nutritional Therapy for Childhood Neurodegenerative Disease

August 1, 2013

…severe form of pontocerebellar hypoplasia, a currently incurable neurodegenerative disease affecting children. Based on results in cultured cells, they are hopeful that a nutritional supplement may one day be able to prevent or reverse the condition.

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…

Center for AIDS Research Receives $15 Million Renewal Grant From NIH

April 3, 2023

The National Institute of Allergy and Infectious Diseases has awarded a five-year, $15.45 million grant to the San Diego Center for AIDS Research at UC San Diego, renewing support that extends back to an original establishing grant in 1994 at the height of the AIDS epidemic.

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