XII Internationale Conferentie

Host and Organizer of the program

He has numerous national and international publications, more than twenty competitive projects and has been an evaluator for AGAUR and a reviewer for numerous international journals. Recently, he has received accreditation in Human Genetics from the Spanish Association of Human Genetics and has been elected Full Academician by the Royal Academy of Medicine of Zaragoza.

The field of expertise focuses on the study of rare diseases with special interest in polymalformative syndromes such as Cornelia de Lange and Schuurs-Hoeijmakers.

His research laboratory has focused on projects studying the molecular etiologies of Cornelia de Lange syndrome (CdLS), CHOPS syndrome, Pallister-Killian syndrome (PKS), Alagille syndrome, hearing loss, hernias congenital diaphragmatic and congenital heart defects. 

To this end, his laboratory has identified many new pathological genes, novel human disorders and has for the first time implicated many critical molecular pathways, such as Notch signaling, cohesin, and the superelongation complex, in human developmental disorders. 

From a translational point of view, it has been at the forefront of adapting new genomic technologies to the clinical environment.

President of the Kaertor Foundation (for early drug search), President of the INGADA Foundation (on care and study of ADHD and associated disorders), among others. He has published 8 books and more than 800 articles in international journals. Awards: King James I for research, Adelaide Medal, Galien Medal, Gold Medal of Galicia, among many others. Doctor Honoris Causa from several universities in Europe and America.

Angelo Selicorni graduated in Medicine from the University of Milan. Specialized in Pediatrics and Medical Genetics. 

He is a clinical reference in case selection in a diagnostic assistance project for those affected by genetic RD.
He led the largest study on SMC1A loss-of-function variants.