Eduardo Tizzano, MD, PhD

Eduardo Tizzano is a specialist in paediatrics and medical genetics. He is currently Director of the Department of Clinical and Molecular Genetics of the Vall d’Hebron Hospital in Barcelona, Spain, and is Head of the Medical Genetics Research Group. Dr Tizzano studied medicine at the University of La Plata in his native Argentina and while he was a resident in paediatrics he developed an interest in helping patients with spina muscular atrophy (SMA).

Dr Tizzano moved to Spain to complete his PhD, collecting DNA samples from families affected by SMA and collaborating with Judith Melki, who discovered the SMN gene. His current main areas of research interest include: the characterization of SMA during human development; genotype–phenotype correlations; and identification of modifier genes and validation of biological markers. He has published extensively in these areas, as well as in other genetic disorders, collaborates with different neuromuscular and genetic centres, and participates as Principal Investigator and collaborator in clinical trials.

Dr Tizzano has close liaisons with regional, national and international patient support groups such as SMA Europe, as well as with scientific groups and societies. He has received prizes in the field of rare diseases and neuromuscular disorders, including the Queen Sophia Prize for his cumulative clinical, research and social work in SMA. He is also curator of the Spanish SMA Registry (FUNDAME), a member of the TGODC (Treat-NMD), and coordinates SMA sample biobank and clinical research collaborations in Spain with the purpose of defining therapeutic targets for the disease and supporting clinical trial readiness.