Parent Project Muscular Dystrophy Awards UCLA $50,000 Exploratory Grant for Evaluation of Exon Skipping Enhancers in Duchenne - PPMD Community

Parent Project Muscular Dystrophy Awards UCLA $50,000 Exploratory Grant for Evaluation of Exon Skipping Enhancers in Duchenne - PPMD Community: "PPMD announced today that they will award Dr. M. Carrie Miceli and her team at UCLA’s David Geffen School of Medicine and College of Letters and Science, a $50,000 exploratory grant to continue their evaluation of exon skipping boosters for the treatment of Duchenne. 
 
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately one in every 3,500 to 5,000 live male births. The loss of a key muscle protein called dystrophin causes muscle wasting and weakness, eventually leading to the loss of ambulation, difficulty breathing, and heart failure.  Death typically occurs in the mid-to late 20s.
 
Duchenne is often caused by frame-shifting mutations that abolish dystrophin expression that can be repaired by antisense oligonucleotide (AON) directed “exon skipping.” Ongoing clinical trials of exon 51 AON demonstrate dystrophin rescue and slowing of disease progression. Adding a targeted small molecule drug, in combination with the AON, may be a means of increasing skipped dystrophin levels and thereby increasing the effectiveness of treatment with AON alone. Dr. Miceli and her team at UCLA have identified drugs that boost AON-directed exon 51 skipping, which impinge on a common pathway. This has led her to predict that second-generation drugs may have even greater skip boosting activity. This grant will allow Dr. Miceli to continue exploring therapies that will promote skipping alone or in combination with AON directed against exon 51 or other exons currently in the clinical pipeline."



'via Blog this'