Danon disease (or glycogen storage disease Type IIb) is a lysosomal storage disease that was first characterized by Danon in 1981. Danon Disease is an X-linked dominant disorder that predominantly affects cardiac muscle. It affects both males and females, although males tend to see the majority of mental retardation and muscle weakness.
Danon disease is a very rare, life-threatening condition where the fundamental biological process of removing and recycling proteins does not work.
The governing board of the California Institute for Regenerative Medicine unanimously approved this week two grants worth more than $2.2 million to University of California San Diego School 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.
For the first time, National Institutes of Health researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1).
Five scientists from the University of California, San Diego and its School of Medicine have been awarded almost $12 million in new grants from the California Institute for Regenerative Medicine (CIRM) to conduct stem cell-based research into regenerating spinal cord injuries, repairing gene mutations that cause amyotrophic lateral sclerosis and finding new drugs to treat heart failure and Alzheimer's disease.
A study that included young patients with a recently recognized rare type of cardiomyopathy (a disorder of the heart muscle) linked to a genetic mutation finds that progression of this disease may be rapid and often results in early death, according to a study in the March 25 issue of JAMA.