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.
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.
March 18, 2020
New study finds gene therapy improved cardiac, muscle and liver function in Danon disease mouse models.
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.
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.…
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…
September 11, 2019
An international team of researchers has discovered a cause for a rare eye disease affecting the macula that leads to loss of central vision, called macular telangiectasia type 2 (MacTel).
September 1, 2015
…studies of leptospirosis, an infectious and sometimes fatal bacterial disease endemic in much of the world.
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.
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.
