Summary: Researchers successfully applied a gene therapy platform to completely correct brain defects in a large animal model of a human genetic disease.

Source: University of Pennsylvania

A lone genetic mutation can cause a life-changing disorder with effects on multiple body systems. Lysosomal storage diseases, for example, of which there are dozens, arise due to single mutations that affect production of critical enzymes required to metabolize large molecules in cells. These disorders affect multiple organs including, notably, the brain, causing intellectual disability of varying degrees.