Testing SMA patient DNA with advanced methods like HapSMA can reveal genetic changes that affect how severe the disease is, ...

Related: The exceptionally rare disease that causes holes to form in your brain The condition is usually caused by mutations in a gene called SMN1, which contains instructions for how to make a ...

Spinal muscular atrophy (SMA) is a devastating, genetic neuromuscular disease caused by a lack of a functional SMN1 gene that results in the progressive and irreversible loss of motor neurons.

SMA Type 1 is the leading genetic cause of infant mortality around the world. It results from a defect in the SMN1 gene, and about one in 50 Americans are genetic carriers. In the absence of a ...

Novartis has been working hard to encourage screening of newborns for the SMN1 gene mutation that causes SMA, in order to allow treatment to be carried out as early as possible, when they have the ...

OAV101 IT is an investigational gene replacement therapy designed to directly address the genetic root cause of the disease by replacing the nonworking SMN1 gene with a single dose. In the ...

Intrathecal treatment with a vector-based gene therapy was associated with a ... of the disease by providing a functional copy of the SMN1 gene,” Daniel Grant, vice president and global program ...

(An active ingredient is what makes a drug work.) It’s a kind of gene therapy that replaces the atypical SMN1 gene with a typical version. Zolgensma comes as a liquid suspension. It’s given as ...