Departamento de Genética Humana Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA)
Paulo Gaspar is graduated in Biology, by the Faculty of Sciences, University of Porto. His professional activity started in 2002, at the Medical Genetics Institute, where he performed biochemical and molecular analyses for the diagnostic of several metabolic disorders. In 2005, he moved to Peroxisome and Lysosome Unit (UniLiPe) of Doctor Clara Sá Miranda, at the Institute for Molecular and Cell Biology (IBMC) – University of Porto, where he developed new enzymatic methods for the diagnosis of several lysosomal diseases by measuring lysosomal enzymes activities in dried blood spots. The biochemical and molecular tools he developed allowed the screening of these disorders in high risk and neonatal populations. He did his PhD at the Academic Medical Center in Amsterdam, The Netherlands, focusing on the disability caused by the deficiency on the lysosomal protein LIMP-2 and on its biochemical and phenotypic consequences, both in humans and mice, which led to several important publications in peer-reviewed international journals. Since 2015, he works at the Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, National Institute of Health Dr. Ricardo Jorge, Porto, headed by Doctor Laura Vilarinho, being responsible for the diagnosis and follow-up of lysosomal storage disorders and the discovery of new biomarkers for these disorders.