Researchers identify TMEM63B gene mutations as cause of severe childhood lung disease

Across four unrelated families on three continents, five children have suffered from a lung disease so rare and so poorly understood that it had no name — until now. Researchers tracing a single undiagnosed patient through a federally funded medical mystery program have identified mutations in the TMEM63B gene as the hidden cause, revealing that when both copies of this ion channel gene fail entirely, the lungs — unlike the brain — have no way to compensate. The discovery is a reminder that the rarest suffering often requires the widest collaboration to illuminate, and that a diagnosis, howeve