Shift’s Focus

Spinal Muscular Atrophy

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.

For more information about SMA and organizations actively pursuing treatment for SMA click on a logo below:

Cure SMA Logo
Gwendolyn Strong Foundation
Muscular Dystrophy Association Logo
SMA Foundation Logo