Associate Professor of the Muscular Diseases Unit (ENM) of the Neurology Department of the Santa Creu i Sant Pau Hospital (HSCSP) in Barcelona.

ASSISTANCE AND RESEARCH OF NEUROMUSCULAR DISEASES
Jordi Díaz Manera is a physician of the NeuroMuscular Diseases Unit (ENM) of the Neurology Service of the Santa Creu i Sant Pau Hospital (HSCSP) in Barcelona. He obtained his PhD degree cum laude in Medicine by the Autonomous University of Barcelona (UAB), thesis for which he received the extraordinary mention

His work is focused on the visit of patients with various neuromuscular diseases, especially myopathies. He is specialized in the diagnosis and monitoring of muscular dystrophies, inflammatory myopathies and metabolic myopathies, such as Pompe disease. He also performs electrophysiological studies (EMG, fiber isolated) to the patients of the Unit and the area of ​​influence of the Hospital. He is specialized in the application of magnetic resonance studies to patients with muscular dystrophies. He has participated in the production of national and international clinical and therapeutic guidelines for patients with myasthenia gravis and hereditary myopathies.

His research is focused on different aspects of hereditary myopathies. On the one hand, he has applied muscle magnetic resonance to the study of muscle diseases, especially regarding its usefulness as a diagnostic tool and for monitoring muscular dystrophies. On the other hand, his basic research focuses on knowing the pathophysiology of muscular dystrophies and finding new therapies that can improve patients. He conducts several clinical trials with research drugs from the pharmaceutical industry but also he conducts research studies based on the natural history of hereditary myopathies

He spent a year and a half at the Stem Cell Research Institute of Ospedalle San Rafaelle in Milan, Italy, in the laboratory of Dr. Cossu, where he has worked on the techniques of mesenchymal stem cell treatment of murine muscular dystrophy models. He has been coordinator of the Neuromuscular Disease Study Group of the Spanish Society of Neurology from 2012 to 2014. He collaborates with numerous patient associations at national and international level. He is part of the MYO-MRI study group, a group of European neurologists and radiologists interested in spreading the application of magnetic resonance imaging to the study of muscular dystrophies.

Academic training:

• Degree in Medicine and Surgery from the Rovira i Virgili University of Reus in 2000
• Specialist in Neurology at the Santa Creu i Sant Pau Hospital in Barcelona in 2005
• PhD in Medicine from the Autonomous University of Barcelona in 2013
• Thesis: New diagnostic and therapeutic aspects of dysferlinopathies.
• Extension Studies Grant (BAE) of the Spanish Ministry of Health and Young Fellowship of the European Federation of Neruological Societies

Grants:

• Duchenne Parent Project Spain
• Genzyme Scholarship for magnetic resonance imaging in Pompe disease
• Grant of the Isabel Gemio Foundation
• Boehringer Pharmacological Development Scholarship
• FISS Project of ISCIII 2015-17

Research Areas:

• Diagnosis and treatment of patients with hereditary and inflammatory myopathies
• Application of muscle magnetic resonance imaging to the study of hereditary myopathy
• Study of the natural history and biomarkers of progression of Pompe disease
• Study of the pathophysiologies of muscular dystrophies and search for new treatments for muscular dystrophies.