Patrício Aguiar graduated at Lisbon University Medical School in 2006 and completed his trainee in Internal Medicine, in 2017, at Centro Hospitalar e Universitário Lisboa Norte. He completed his PhD at Lisbon University Medical School (biomarkers of Anderson-Fabry
disease), in 2018, in partnership with the University College of London. He performs the evaluation and follow up of patients with inherited metabolic disorders, mainly lysosomal storage disorders and inborn errors of lipid metabolism. He is also member of the core team
of one of the national reference center in inherited metabolic disorders (Unidade Local de Santa Maria), integrated in the MetabERN (European Reference Network for inherited metabolic disorders), as well as member of the board of the rare diseases study group of the
Portuguese Society of Internal Medicine.
His main research areas are Lysosomal Storage Disorders, familial dyslipidemias and Autonomic Nervous System Diseases, with several ongoing research projects on Anderson Fabry disease (AFD) biomarkers and immunogenicity against recombinant proteins used for enzyme replacement therapy and neuroimaging prodromic signs of Parkinsonism in Gaucher disease. In 2014, he was awarded the prize of the Federation for the Development of Internal Medicine in Europe for research in the field of rare disorders.
He is Assistant Professor of Internal Medicine at Lisbon University Medical School and has published more than 50 articles in national and international peer-reviewed journals and presented more than 250 communications in national and international conferences and
meetings.