Hunting and capture of new genes that cause Cornelia de Lange Syndrome.

-the Group of Dr. John foot, which he gave a seminar on December 1, has recently participated in the discovery of the third causal gene of the Cornelia de Lange Syndrome

Zaragoza, 2011-December the Cornelia de Lange Syndrome is an inherited disorder belonging to the group known as rare diseases, causing serious abnormalities in the development of children, both affecting its physical development as an intellectual. It can affect one out of 45,000 to 62,000 births.

This syndrome is a genetic cause ailment until recently unknown affecting different organs and systems, although not always manifests itself in a severe manner. The Group of Dr. Juan Pié has recently participated in the discovery of one of the three causative genes of the disease. Relevant research at the molecular level of the genes involved in this pathology has become his laboratory national reference for the Cornelia de Lange Syndrome.

Dr. Juan Pié graduated and received his doctorate in medicine from the University of Zaragoza. He was later Professor Titular of the Faculty of Medicine of Huesca, which came to the post of Associate Dean. Today he works in the Department of Pharmacology and physiology of the Faculty of Medicine of Zaragoza, where he directs the Group of consolidated research of clinical genetics and functional genomics.

Past 1 December at 17: 30 pm in the Hall of degrees of the Faculty of Medicine of the University of Zaragoza, Dr. Juan Pié gave a seminar in which spoke, inter alia, of causal genes the Cornelia de Lange Syndrome, as well as the strategy search new candidates.