Spanish SMA Registry
Born in La Plata Argentina, Eduardo is a specialist in Pediatrics and Medical Genetics also he is the Principal Investigator of the U-705 CIBERER. He is devoted to diagnosis and research in SMA at the Hospital of Sant Pau of Barcelona, a reference Center for SMA diagnosis from all over Spain.
His main areas of research include the characterization of SMA during human development, genotype-phenotype correlations and validation of biological markers. He is very active in academic and research activities at national and international levels collaborating with different neuromuscular and genetic centers.
He has close liaisons to regional and national patient support groups. He was awarded with the Queen Sophia Prize for his cumulative clinical, research and social work in SMA. He also coordinates the SMA Registry, Biobank and clinical research in Spain with the purpose to define therapeutic targets for the disease.
Hospital Sant Pau-Department of Genetics
Carrer Sant Quintí 89