Rafael Artuch


Education: Medicine degree (1990). Doctor in Medicine by the University of Barcelona in 1998 (PhD project: diagnosis of mitochondrial disorders in paediatric patients). Associate professor of biochemistry (Pharmacy degree) from 2000 to 2008. At present, director of the Inborn Errors of Metabolism laboratory of Hospital Sant Joan de Déu (Barcelona), and group Leader (U-703, Hospital Sant Joan de Déu) in the CIBERER (research centre for investigation in rare diseases, ISCIII).

Scientific and clinic research biography: From 2000 year when I got a staff position in the laboratory of Sant Joan de Déu Hospital, I have leaded several research projects funded by public competitive calls. Among them, projects from the Ministry of Spanish Health (Instituto de Salud Carlos III (ISCIII)) and several collaborations in projects funded by the European Union. The topics covered by these projects were always related with inborn errors of metabolism and my main areas of expertise inside this complex field are mitochondrial energy metabolism disorders and also neurometabolic diseases, including GLUT1 deficiency and neurotransmitters disorders among others. Due to this research activity, I have published papers in international scientific journals. Amongst them, I have participated in the description of new genes associated with rare diseases, in the identification of new phenotypes and in the clinical follow-up of patients with rare diseases under treatments with orphan drugs.