Discovered a new hereditary genetic disease. ” It doesn't have a name yet”.
A new genetic disease has been discovered by a group of geneticists from Lausanne. The study, published in “Nature Genetics”, has shown that the disease is triggered by a disturbance in the synthesis of sialic acid, a substance present above all in the human brain. This pathology, which does not yet have a name, causes severe delays in brain development and bone growth.
The observation of some patients with these symptoms brought Andrea Superi, professor at the faculty of biology and medicine of the University of Lausanne (UNIL) and a head of service at the hospital of the same Institute (Chuv), wondering If these symptoms could not hide a common cause. “In the space of five years, we discovered genetic mutations in eight patients aged 3 to 46 from Canada, Great Britain, France and Japan,' explained the specialist in a statement released Monday by UNIL. This work adds a piece to the understanding of the genetic basis of delays in brain development and bone growth, observes Giovanni D’Agata, president of the "Sportello dei. The study of the gene could open new lines of research for a better understanding of the mechanisms underlying brain development and function and for an oral cure.