Spinal Muscular Atrophy (SMA) is the most common inherited motor neuron disease and occurs in 1 out of every 11,000 live births with a carrier frequency of 1 in 40 worldwide. Most children born with SMA fail to reach their second birthday. Treating SMA should be a global priority due to the relatively high frequency for a “rare” disease combined with the often catastrophic impact on families. It is Shift Pharmaceuticals’ priority to treat this devastating disease caused by the loss of Survival Motor Neuron-1 (SMN1). The promise in treating SMA lies in the presence of a nearly identical gene called SMN2. SMN2 is alternatively spliced resulting in low levels of functional SMN protein and cannot inherently prevent disease. However, SMN2 is a perfect target for an ASO strategy targeting elements within SMN2 to redirect the alternative splicing event for dramatically increased SMN protein levels and restoration of function.
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