Skip to main content

Your search for “Rare Disease” returned 212 results

Rare Science

May 1, 2023

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.

Target Identified For Rare Inherited Neurological Disease In Men

August 10, 2014

Researchers at University of California, San Diego School of Medicine have identified the mechanism by which a rare, inherited neurodegenerative disease causes often crippling muscle weakness in men, in addition to reduced fertility.

Scientists Receive $4.8M to Pursue Gene Therapy for ‘Incurable’ Disease

December 1, 2022

The California Institute for Regenerative Medicine has awarded UC San Diego researchers $4.8 million to advance a gene therapy to treat Friedreich’s ataxia, a rare but devastating neuromuscular disorder.

UC San Diego Researchers Awarded $889,000 for Cystinosis Studies

August 27, 2013

…cure for cystinosis. A rare and deadly genetic disease, cystinosis affects about 500 children and young adults in the United States and 2,000 worldwide. The most recent grants bring the total funding from CRF to UC San Diego School of Medicine researchers to more than $5.5 million since 2003.

Hope for Our Zebra

May 1, 2023

When alumni Michaelle Jinette and Kevin Witt’s fourth son Tristan was diagnosed with the rare KCNH1 genetic mutation, the couple raised money, collaborated with scientific partners, and initiated rare disease research on behalf of their child and the 50 others like him in the world.

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

March 18, 2020

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

Genetic Variations that Boost PKC Enzyme Contribute to Alzheimer’s Disease

May 10, 2016

In Alzheimer’s disease, plaques of amyloid beta protein accumulate in the brain, damaging connections between neurons. Now, researchers at University of California San Diego School of Medicine and Harvard Medical School have found that the enzyme Protein Kinase C (PKC) alpha is necessary for amyloid beta to damage neuronal connections.…

UC San Diego Launches Gene Therapy Initiative, Targeting Treatments for Rare Diseases

August 29, 2023

A $5 million gift from the Nancy and Geoffrey Stack Foundation has established the UC San Diego Gene Therapy Initiative to find novel therapies for children and adults with genetic diseases.

UC San Diego Launches New Center for Anti-Parasitic Drug Discovery and Development

June 13, 2018

Neglected tropical diseases are a group of chronic and disabling parasitic infections that primarily affect poor and underserved communities. These diseases affect more than 1 billion people globally, yet are rarely the target of new drug discovery efforts. Leveraging its strengths in molecular biology, clinical research and pharmaceutical sciences, the…

Albert La Spada Receives Harrington Scholar Award to Combat Neurodegenerative Disease

September 21, 2015

…a therapy for Spinocerebellar ataxia type 7 (SCA7), a rare but devastating neurological disorder that can lead to blindness and progressive loss of physical coordination.

Category navigation with Social links