Skip to main content

Search UC San Diego Today

Keyword is required

Your search for “rare diseases” returned 229 results

Rare Science

UC San Diego is a hub for rare disease research. Although each rare disease impacts a small number of people, the research findings sometimes apply to more prevalent conditions.

Rare Genetic Mutations Linked To Bipolar Disorder

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, reports that abnormal sequences of DNA known as rare copy number variants, or CNVs, appear to play a significant role in the risk for early onset bipolar disorder.

Appendiceal Cancer Gets Its Own Preclinical Model

Researchers at UC San Diego School of Medicine and Moores Cancer Center at UC San Diego Health describe the first preclinical model of appendiceal cancer that contains all elements of the tumor, allowing previously stymied investigations to proceed.

Single Gene Mutation Linked to Diverse Neurological Disorders

…of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer’s, Parkinson’s and Huntington’s diseases.

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

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.

Cancer Drug and Antidepressants Provide Clues for Treating Fatal Brain-Eating Amoeba Infections

Researchers at Skaggs School of Pharmacy and Pharmaceutical Sciences at University of California San Diego have now identified three new molecular drug targets in Naegleria fowleri and a number of drugs that are able to inhibit the amoeba’s growth in a laboratory dish. Several of these drugs are already approved…

How Gene Therapy May Hold Key to Treating Life-Threatening Cardiac Disease

New study finds gene therapy improved cardiac, muscle and liver function in Danon disease mouse models.

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

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

…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…

A New Gene-Editing System Tackles Complex Diseases

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.…