With a tank of zebrafish, Queensland researcher Jean Giacomotto was able to test a never-before seen genetic variant ...

Spinal muscular atrophy (SMA) is a genetic neuromuscular disease affecting specialized nerve cells that control voluntary muscle movement, according to the Muscular Dystrophy Association (MDA). It can ...

A couple whose son died from a rare genetic condition are encouraging others to take part in screening which they say could ...

Findings from a new study in the Journal of Neuromuscular Diseases, published by IOS Press, demonstrate the effectiveness of disease-modifying treatments (DMTs) in infants with spinal muscular atrophy ...

More than two years after the Government committed to adding SMA to newborn testing, families are still waiting ...

Spinal muscular atrophy is a debilitating genetic condition that’s usually fatal by a few years of age. But an intriguing case study might demonstrate a simple new treatment, with a child showing no ...

We were unable to process your request. Please try again later. If you continue to have this issue please contact customerservice@slackinc.com. Topline results from a phase 3 clinical trial showed an ...

Newborn babies in Hull will be able to be screened for more than 200 rare genetic conditions as part of a national study to ...

Credit: Novartis. The approval was supported by data from phase 3 STEER study, which enrolled patients with SMA who were treatment-naive and able to sit but never able to walk independently. Itvisma ...

Treatment with onasemnogene abeparvovec gene therapy for spinal muscular atrophy (SMA) type 1 was associated with less need for nutritional support or nighttime ventilation compared to recommended ...