A research team from the Bellvitge Biomedical Research Institute (Idibell), with participation from Bellvitge Hospital, has identified a new rare disease previously unknown worldwide. The condition has so far been confirmed in only 13 people from eight unrelated families, one of whom is a patient at Bellvitge Hospital.

When Evelyn was born, her parents cried. A scan of the baby confirmed the news they had hoped not to receive: she suffered from spinal muscular atrophy (SMA), the same devastating disease that had already caused the death of their first child, Josephine, at just 15 months old.