Carlos Casasnovas

From the academic and teaching point of view within the Bellvitge Health Sciences campus of the University of Barcelona (UB), Dr Casasnovas is currently the coordinator of the subjects Nervous System Diseases (which is taught in the fourth degree of Medicine), and Neurological Basics Applied to Podiatry (which is taught in the fourth grade of Podiatry), and responsible for neurological semiology within the subject General Semiology and Clinical Propaedeutics (which is taught in the third degree of Medicine) as well as International Mobility Coordinator of Medicine and member of the academic committee. In addition, I am currently the coordinator of the Neuromuscular Diseases specialty of the official Master’s Degree in Advanced Medical Skills at the UB and co-director of our own Master’s Degree in Neurological Electro-diagnosis. At present, He has directed three doctoral theses (one in co-direction) and in addition, he is charge of a total of 5 pre-doctoral students. In terms of healthcare, and since 2017, Dr Casasnovas is the CSUR coordinator of Rare Neuromuscular Diseases and of the Network of Clinical Expertise Units in Neuromuscular Diseases of the Neurology Department at Bellvitge University Hospital (HUB), and from January 2022, coordinator of the European Reference Network (ERN) in Neuromuscular Diseases. He is integrated as a clinical neurological manager within the Multidisciplinary Family Amyloidosis Unit (UMAF), which is also associated with the Liver Transplant Unit, with the Neuromuscular Unit, of which I am the coordinator, and with the Rare Diseases Unit, of which I am also a member. He has more than 20 years of experience in clinical, electrophysiological diagnosis and neurogenetic research (Charcot-Marie-Tooth disease (CMT), hereditary and sporadic ataxia, spastic paraparesis) and neuromuscular disorders. . From the point of view of research, from 2003 to 2014, as a collaborator of the Molecular Diagnostic Center of the Bellvitge Biomedical Research Institute (IDIBELL), coordinated by Dr. Volpini, Dr Cassnovas was working to find out the real prevalence of the different mutations that cause CMT in our environment, as well as its phenotype – genotype relationship. This work became the basis for developing his doctoral thesis (excellent Cum Laude) in 2010. He was the principal investigator in Catalonia of the study “Translational research, experimental and therapeutic medicine in CMT disease”, which was developed in collaboration with 13 different groups from all over Spain until 2016 (coordinated by Dr. F Palau – CIBERER). Since 2010, I have been part of the Neurometabolic Diseases Group (group of excellence for the Catalan research agency AGAUR -SGR 1430-), led by Dr Aurora Pujol. Together with this group Dr Casasnovas started projects that use next generation sequencing to diagnose and identify new genes for hereditary spastic paraparesis and other first motor neuron diseases, funded by the Instituto de Salud Carlos III (ISCiii) and La Marató de TV3. This line of research has been extended with funding received in the FIS call of the ISCIII in 2020. Since 2018 Dr Casasnovas is a member of CIBERER. All this research effort has led to 94 articles published in international journals, nearly half in the first quartile. It is particularly noteworthy that 8 of the articles in which Dr Casasnovas is the main author (last, first or author of correspondence), have been published in first quartile journals.