BY OUR PLATFORMS
BY THERAPEUTIC AREA
12 February 2018
Source: Drug Target Review
By: Dr Zara Kassam
DMD is a rare disease affecting primarily boys and is caused by defects in the gene that makes the dystrophin protein. These defects – which could affect any of the 79 exons that comprise the gene – lead to degeneration of skeletal and heart muscles, forcing patients into wheelchairs and, due to degeneration of chest wall muscles needed for breathing, eventually onto respirators. Most patients die by age 30. No cure has been developed.
Scientists from the UT Southwestern Medical Center have developed a CRISPR gene-editing technique that can potentially correct a majority of the 3,000 mutations that cause Duchenne muscular dystrophy (DMD) by making a single cut at strategic points along the patient’s DNA.
The method, which requires only a single cut at different strategic points along the patient’s DNA, shows how a broad range of mutations can be corrected by eliminating abnormal splice sites. Different guide RNAs have been developed which corrected the gene, expressing finally an improved dystrophin protein product that has enhanced the function of the human muscle tissue to near-normal levels.
This surgical-like editing of the genome not only offers an alternative to the individualized molecular treatment for each gene mutation, it also opens up possible new treatment approaches for other single-gene mutations.
Here at ZeClinics, we have developed zebrafish dystrophin mutants, sapje, that represent excellent animal models of human muscular dystrophy and it can be used to test new therapies. All these efforts are aimed at finally being able to eradicate this disease forever.