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Your search for “rare diseases” returned 204 results

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

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.

Domino Liver Transplant Treats Two Rare Diseases, World First

For the first time ever, a surgical team led by Alan Hemming, MD, has successfully performed a domino transplant using a liver with a rare genetic disorder called methylmalonic acidemia (MMA).

Hope for Our Zebra

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.

Target Identified For Rare Inherited Neurological Disease In Men

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.

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

…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.

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

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 Researchers Receive Funding to Pursue Novel Stem Cell-based Treatments

…of Medicine researchers investigating stem cell-based therapies for a rare genetic disorder that affects the heart and a chronic, progressive affliction of the lungs.

Albert La Spada Receives Harrington Scholar Award to Combat Neurodegenerative Disease

…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.

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.