Individuals who are diagnosed with amyotrophic lateral sclerosis (ALS) today face the same
historically intransigent problem that has existed since the initial description of the disease in …

In recent years, adeno-associated virus (AAV) has become the most important vector for
central nervous system (CNS) gene therapy. AAV has already shown promising results in …

SMA is an inherited disease that leads to loss of motor function and ambulation and a
reduced life expectancy. We have been working to develop orally administrated …

Most rare diseases still lack approved treatments despite major advances in research
providing the tools to understand their molecular basis, as well as legislation providing …

Onasemnogene abeparvovec (onasemnogene abeparvovec-xioi; formerly AVXS-101;
ZOLGENSMA®) is an adeno-associated viral vector-based gene therapy designed to deliver …

The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a
highly challenging endeavor, but also led to one of the most successful stories in …

Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the
most severe cases and when left untreated, leads to death within the first two years of life …

Twenty-five years ago, the underlying genetic cause for one of the most common and
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …

RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …