Scientists at The Hospital for Sick Children (SickKids) have used the gene-editing tool CRISPR to correct a disease-causing mutation in mice with a form of congenital muscular dystrophy, MDC1A. The findings, published in the July 17 online edition of Nature Medicine, show significant improvement in muscle strength and function among the mice treated with CRISPR, with no remaining signs of paralysis.
MDC1A is a rare neuromuscular disease affecting one in 150,000 worldwide. It is caused by a mutation in a gene called laminin alpha 2 and is characterized at birth by muscle weakness and low muscle tone, as well as brain abnormalities. Babies born with this condition eventually lose all muscle function and live an average of 30 years.