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Staff Profile

Professor Jordi Diaz Manera

Professor of Neuromuscular Diseases, Translational Medicine and Genetics

  • Email: jordi.diaz-manera@ncl.ac.uk
  • Telephone: +44 (0) 1912418602
  • Address: John Walton Muscular Dystrophy Research Center
    Center for Life
    Central Parkway
    NE13BZ
    Newcastle Upon Tyne, UK
Background
Jordi Diaz Manera, MD, PhD, is a Professor of Neuromuscular, Translational Medicine and Genetics at Newcastle University and Honorary Consultant in Genetics at Newcastle Hospitals NHS Foundation Trust.  
 
Jordi did the undergraduate studies in Medicine in Universitat Rovira I Virigili in Tarragona (Spain) and was trained from 2001 to 2005 in Neurology at Hospital de la Santa Creu i Sant Pau (HSCSP) in Barcelona. After the neurology training, he did a fellowship in Neuromuscular Diseases at the same hospital funded by the Spanish Society of Neurology. Jordi became an associate member of the Neurology department of HSCSP in 2006 working in the Neuromuscular Diseases Unit where he was mainly responsible of the diagnosis and follow-up of patients with inherited and acquired myopathies. 

Jordi has a long-standing experience in translational research, being interested both in basic and clinical research areas. He was a visitor researcher at the Stem Cell Research Unit at San Rafaelle Ospedalle in Milano (Italy) lead by Prof. Giulio Cossu from 2008 to 2010. There he worked in a project related with stem cell characterization and treatment of a murine model of dysferlinopathy with these cells. Spending two years working in a research laboratory awoke Jordi’s interest in cell biology and particularly understanding the process of muscle degeneration and regeneration that takes place in patients with muscular diseases, which has been the motivation of his career. In 2013 he completed his PhD on "New diagnostic and therapeutic tools for dysferlinopathy", focusing on the development of new diagnostic and therapeutic tools for dysferlin muscular dystrophy, being rated excellent cum laude by the examining board and awarded the European Special Mention by the Autonomous University of Barcelona. Since that moment he became a senior member of the research laboratory in Barcelona and responsible of the research line in muscle diseases. In this role he has supervised eight PhD students that successfully completed their PhD while being working in the laboratory. In recent years, he has become more interested in discovering new molecular targets for therapies to treat patients with these diseases. He has especially worked with tyrosine-kinase inhibitors as antifibrotic drugs and is the co-owner of a patent to use nintedanib for treatment of muscular dystrophies.  
 
His clinical research activities are mainly focused on the implementation of muscle to characterize the phenotype of patients with different neuromuscular diseases and also to quantify diseases progression. In this sense, he has published several papers describing the patterns of muscle involvement in many different diseases including limb girdle muscular dystrophies, Pompe disease or neuropathies. Moreover, he has also used different MRI techniques to study disease progression, including Dixon, DTI, magnetization transfer or T2. Jordi is especially interested in correlating clinical and radiological data as well as understanding how MRI can identify the changes that are taking place in the tissue. 

Jordi is member of several professional societies including the Catalan and Spanish Neurology Society, the European Academy of Neurology, the British Myology Society and the World Muscle Society. He was the coordinator of the Neuromuscular Study group of the Spanish Society of Neurology from 2012 to 2014 and member of the directive committee of the Catalan Society of Neurology. He has been also the chair of the limb girdle study group of TREAT-NMD from 2019 to 2022 and is since 2021, the Regional Lead of Genetics of NHIR for the North of England. Jordi is on the grant reviewer panel of several organizations including MDUK in UK, AFM in France, FIS in Spain. He is also reviewer for many journals and is associate editor of Scientific Reports and of Frontiers in Neurology.  He has recently been awarded with a Professorial position by the Academy of Medical Sciences.  

This broad background in neuromuscular disorders, with specific training and expertise in translational research has led him to be PI or co-Investigator of several grants funded both by private or public institutions. The results of these investigations have been published in international peer-review journals of high impact and have been important in the evolution of the knowledge in his topics of interest. 

One of his main point of interests is Pompe Disease. Jordi has studied it contributing to the field, to its diagnosis, stablished correlations between clinical findings and muscles MRI results, other related studies, personally contributing to the development of guidelines for the treatments of patients with this disease. He is one of the members of the Steering Committee of the European Pompe Consortium (EPOC). 
Research

Basic research is one of the pillars of his research routine. For years, they have been interested in the physiopathology and the development of new treatments for muscular dystrophies. The work carried out in this field has allowed his team to find a new indication for an antifibrotic drug, with a European patent shared with Boehringer-Ingelheim, which is the pharmaceutical company that has developed the drug and began a series of research projects grants with both private and public fundings.

His basic research interest focuses on the process of muscle fibre degeneration and the replacement of muscle tissue by fat and fibrosis that takes place in patients with muscular dystrophies. He is especially interested in translating outcomes from cell biology experiments to the development of new therapies and test them in preclinical animal models of muscular dystrophies.

His current clinical research projects concentrate on the characterization of large cohort of patients with muscular dystrophies, the implementation of quantitative muscle MRI for the diagnosis and follow-up of patients with muscular diseases and the development of new outcome measures for clinical trials and natural history studies.

This has allowed him to publish numerous papers in international journals and collaborate with scientific groups around the world. As a result of this effort, he has been part of the Action-COST called MYO-MRI aimed to disseminate the use of MRI among clinicians dedicated to neuromuscular diseases and coordinating the last two years of the COST some of the group meetings. This participation has opened the door to new studies in which their Unit is participating, and that has enabled to take their centre to the forefront of research in this aspect.

Finally, the third aspect of his research is Pompe disease, a metabolic myopathy of which him and his team have done a series of basic research and radiological work that have allowed them to publish articles in first quartile international journals.

In collaboration with the other members of the European Pompe Consortium (EPOC), they have already published guidelines for the follow-up of patients with Pompe disease. Besides he has run clinical studies analysing the muscle MRI features of the patients, studied the concentration of different biomarkers in their blood samples and compared these concentrations with their muscle function and MRI features.

He was the PI of the COMET and the PROPEL Stud in Barcelona and collaborated in the design of several clinical studies with patients such as de COS Study in patients with Dysferlinopathy or the Natural history studies performed with Pompe patients at their centre.

Publications