Dr Gacía-Cazorla is a child neurologist with specific background in metabolism and rare genetic conditions, trained at Hospital Sant Joan de Déu (HSJD), Barcelona, Hôpital Necker, Paris, and Columbia University, NY. She founded the “Synaptic metabolism laboratory” in 2009 at HSJD and since then she has combined both, clinical activity as a child neurologist and head of the neurometabolic unit, and basic investigation. She co-founded the I-NTD, a worldwide network for the study of neurotransmitter-related diseases. She is currently the coordinator of the subgroup NOMPs (neurotransmitter and other neurometabolic diseases) at the metabERN (European Reference Network).

She is a member of diverse Scientific Commitees: Recordati Rare Diseases Foundation, E-IMD, I-NTD, European Glut1D association. She is a member of the board of directors of the SSIEM.

She has published more than 200 impact factor articles about clinical descriptions, pathophysiology and biomarkers of diverse diseases including the description of new disorders.

https://pubmed.ncbi.nlm.nih.gov/?term=garcia+cazorla&sort=date