The scientists at the University of California, San Francisco, and Johns Hopkins University in Baltimore injected an ...

Evidence is mounting that clinicians can treat serious genetic disorders prenatally by injecting medicine into the amniotic ...

In a hopeful step for medicine, a 2-and-a-half-year-old child born with spinal muscular atrophy (SMA ... induce increased ...

Watch Video Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. The different forms of SMA are associated with numerous gene mutations and ...

Nature Cell Biology - Spinal muscular atrophy is caused by mutations in the survival motor neurons gene, SMN1. The SMN protein localizes to both the cytoplasm and the nuclear bodies. One hallmark ...

Injecting medicine into the amniotic fluid staves off progression of spinal muscular atrophy in utero.Evidence is mounting ...

Digital PCR to simultaneously detect SMN1 gene defects and the number of SMN2 copies to diagnose SMA matches standard methods ...

Aviana has spinal muscular atrophy type 1 (SMA1 ... s chromosome 5 has a recessive mutation that corrupts the survival motor neuron (SMN) genes. The SMN1 gene sends instructions to proteins ...

SMA is a devastating motor neuron disease which affects children. It is caused by an abnormal survival motor neuron (SMN) gene, which leads to a reduction of SMN protein levels. Approximately 50 ...

A wearable robotic device called HAL improved walking ability for SMA patients who also received Spinraza (nusinersen), a ...