I have extensive experience for more than 20 years in inherited metabolic diseases (IMD), including diagnosis, follow-up, treatment, teaching and research of these pathologies. I lead a group that has grown over time and currently is made up of 23 professionals dedicated to IMD, which includes clinicians, pharmacists, biochemists and geneticists. This group was one of the pioneers in Europe in implementing expanded neonatal screening. Since 2015 our Unit is a national reference center for IMD, designated by the Spanish Ministry of Health, and since March 2017 a MetabERN Center member.
Legal representative of the Network: María-Luz Couce,MD,PhD
At the Academic and Professional level: I obtained the degree of Doctor of Medicine in 1992. Since 2008 I am Associate Professor of Pediatrics at the Faculty of Medicine of the University of Santiago de Compostela (USC). I am Head of the Pediatrics Section and Director of the Diagnostic and Treatment of Congenital Metabolic Diseases Unit of the Complejo Hospitalario Universitario de Santiago de Compostela (Galicia, Spain).
At the Teaching level: Professor in the USC Degree of Medicine in Pediatric Clinic. I am the co-Director of the Institutional Chair of Hereditary Metabolic Diseases of the USC since December 2015. I am as well Academic Coordinator of the USC Master’s Degree in Hereditary Metabolics Diseases, starting in January 2017, and I have directed 13 doctoral theses.
At the Research level: Leader of the Research Group Metabolopathies, C012, belonging to IDIS-ISCIII. Principal Investigator of the Linked Clinical Group, GCV05, of CIBERER-ISCIII. Since 1990 I have participated in 51 projects, grants and R&D contracts. It can be highlighted being the principal investigator (PI) of an European project funded by the Executive Agency for Health and Consumers of the European Union Network (2012 12: 02-E-HOD-PR), PI of 3 FIS-ISCIII projects in the metabolic area of treatment and diagnosis by mass sequencing techniques, and PI of 3 Phase I-II projects in metabolic diseases. Author / co-author of 109 publications indexed in the JCR, with a combined Impact Factor of 306 (JCR) and an H index of 18. My activity in scientific publications has increased significantly in recent years, with 17 publications in the last 3 years in Q1 journals and a combined impact factor of 123 (JCR). I am Academic Editor of Medicine (Baltimore) and AIMS Genetics.