A new worm model developed by Brown University researchers could play a key role in treating a rare genetic disease that ...

Myofibrillar myopathy type 6 (MFM6) is a rare genetic muscle disorder that leads to severe muscle weakness and a drastically shortened life expectancy due to a disruption in muscle protein regulation.

A long-forgotten drug shows promise for children with a rare disease, offering hope for treatment where none previously ...

Grayce Pearson, from Milton in Glasgow, was just 14-months-old when she was diagnosed with spinal muscular atrophy (SMA).