Prof. Edoardo Malfatti

Full Professor of Neuromuscular disorders and Histopahthology; Reference Center for Neuromuscular disorders, APHP Henri Mondor Hospital, University Paris Est; U955, IMRB, INSERM, FRANCE

Clinical, myopathology, genetic translational scientist in neuromuscular disorders, with a 15 years-experience developed in Italy (Besta Institute) France (Myology Institute) and Sweden. During my training I had the opportunity to discover new myopathy genes and characterize the clinical and myopathologic phenotypes of novel and already described disorders. Since 2020, I have run a research group on translational medicine of neuromuscular disorders at the Inserm, which is part of the Stategic pole Translamuscle funded by the patients advocacy AFM-Téléthon. The aims of my research consist in dissecting the pathophysiology of neuromuscular disorders using an holistic bed-to bench- and back to patients bed approach to develop novel therapeutic approaches for myopathies including gene therapies and drug repurposing strategies. In 2020 I created with Isabelle Richard the French National Registry for Calpainopathies and I run a Natural history study for Calpain 3 LGMD R1 in the perspective of a gene therapy clinical trial.

Histopathologic definition of a large range of myopathies. Identifications of more than 15 new genes of myopathies. Natural history studies. Clinical trials.

H-index 33 (Google Scholar)

Indexed publications: 130