SMA genetics in the therapeutic and newborn screening era

15 February 2024

 

 

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…TIMESLOT: 15 feb. 2024 16:00 CET

…THEME: SMA genetics in the therapeutic and newborn screening era

…PRESENTER: Prof Eduardo Fidel Tizzano (Director of the Department of Clinical and Molecular Genetics at the Vall d’Hebron Hospital in Barcelona, Spain​)

…BIOSKETCH:

Professor Eduardo Tizzano, is a Pediatrician and Medical Geneticist and is Director of the Department of Clinical and Molecular Genetics at the Vall d’Hebron Hospital in Barcelona, Spain.  

Professor Tizzano’s main areas of research include the characterization of spinal muscular atrophy (SMA) during human development, genotype–phenotype correlations, role of modifier genes, and validation of biological markers, and he has published extensively in both these areas and on other genetic disorders.   

Professor Tizzano is very active in academic and research activities at national and international levels collaborating with different neuromuscular and genetic centers and participating as PI and collaborator in clinical trials, projects and as professor in different educational initiatives.  

He has close liaisons to regional, national and international patient support groups as well as scientific groups and societies.  He is also curator of the Spanish SMA Registry (FUNDAME )and  member of the TGODC (Treat-NMD). He is PI in Spain of the project SMA Beyond, Horizon 2020 and  member of the Steering Committee of the European Alliance for SMA newborn Screening and he is also Coordinator Member of European Research Network (ERN) ITHACA and collaborator in other ERNs such as NMD, CRANIO and Bond. He is also professor in EVELAM (Latinoamerican School Myology) giving theory and practice during the last 12 years in the field of neuromuscular disorders and advanced therapies.  

 

Further details

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission


“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern