Following the In Brief by Drs Peroutka and Bodurtha published in Pediatrics in Review in 2020, which focused on the evolution of gene therapy, this In Brief considers a sample of candidate diseases for gene therapy.

Spinal muscular atrophy (SMA) is an autosomal recessive progressive neuromuscular condition that results from disease-causing variants in the SMN1 gene, which produces the survival motor neuron (SMN) protein critical to motor neuron function. When both copies of the SMN1 gene have a pathogenic variant (often a deletion of exon 7), SMA develops. The severity of symptoms depends on the copy number of the closely related SMN2 gene, which can range from 0 to 8. The SMN2 gene sequence is identical to the SMN1 gene except for a few nucleotides, but that difference produces a less stable SMN protein. As a result, only 10% of the protein produced from the SMN2 gene functions properly. The...

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