Published on
A rare but potentially debilitating brain disorder finally has a definitive cause, thanks to research teams working on opposite sides of the globe.
A mutation in the gene that manages the transportation out of cells of zinc, an essential dietary micronutrient, is responsible for the disorder, called hypomyelinating leukodystrophy. The research, jointly led by HUGEN's Quasar Padiath and Dr. Anju Shukla at the Kasturba Medical College in India, is reported in the journal Brain.
“Discovering a new gene responsible for causing a disease is always exciting; that feeling never gets old,” says Padiath.