Splicing is the process of removing parts of DNA code. This can occur naturally, resulting in mutated genes which can lead to genetic diseases such as spinal muscular atrophy (SMA). The survival motor neuron gene 1 (SMN1) responsible for SMA has been spliced and is missing an important element: Exon 7. If a child inherits a mutated SMN1 gene from both parents then they will develop SMA.
However, the human body also has a duplicate of the SMN1 gene, called SMN2. Splicing therapeutics could convert this SMN2 gene to a healthy SMN1 gene and help improve the outcome of the disease and slow down progression. This is what the recently FDA-approved drug Spinraza does, which is now being used worldwide to treat infants, children and adults with all types of SMA.
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