An international team of scientists has discovered a new gene responsible for Leber Congenital Amaurosis (LCA), a rare retinal disease of genetic origin that occurs in newborns, causing blindness.
“This is probably one of the most important discoveries in the fields of neuroscience and blindness in the last 15 years,” he said in a statement Dr. Robert K. Koenekoop of McGill University in Canada, author of the study in the British journal Nature Genetics.
This new gene called NMNAT1, is present in all cells of the human body. Is known to be essential to sustain life and prevent diseases such as Alzheimer’s or Parkinson’s. This is the first time is associated with disease in humans.
“We are approaching a stage where we can identify all the genes responsible for this form of blindness in children and in which we will develop effective treatments,” he said.