The work of this center adjunct to the UR Group can prevent the onset of this disease that causes brain damage in 1 over 1,200 pregnancies.
Doctors of the Genetic Unit Vistahermosa, adjunct to the UR Group, Isabel Ochando, Antonio Urbano and Joaquin Rueda, have identified a new mutation in the gene L1 CAM playing an important role in the genesis of hydrocephalus and agenesis of the corpus callosum.
This disease, which is caused by accumulation of cerebrospinal fluid within the skull, can cause severe brain damage and is present in about 1 over 1,200 pregnancies.
The work, done in collaboration with Doctors Gascon, Acién and Vidal, from the Gynecology Service of the University Hospital of San Juan, opens a way of preventing this disease diagnosed prenatally in several members of a family.
The importance of the result of this research made it appeared in the latest exemplar of the Journal of Obstetrics and Gynaecology.
