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Staff Profile

Professor Giorgio Tasca

Clinical Prof of Neuromuscular Science

  • Telephone: +44 (0) 1912418602
  • Address: John Walton Muscular Dystrophy Research Center
    Center for Life
    Central Parkway
    NE13BZ
    Newcastle Upon Tyne, UK
Background

I am Professor of Neuromuscular Science at the John Walton Muscular Dystrophy Research Centre, Newcastle University, since January 2023.

I received my residency in Neurology in 2011 and completed a PhD in Neuroscience in 2014 at the Catholic University School of Medicine in Rome, Italy. In 2012-2013 I was research fellow at the Folkhälsan Institute of Genetics, Helsinki and at the Neuromuscular Research Center, Tampere University, Finland, and later on at the Unit of Neuromuscular and Neurodegenerative Disorders of the Bambino Gesù Children’s Research Hospital, Rome. From 2015 to 2022 I worked at the Unit of Neurology of the Fondazione Policlinico Universitario “A. Gemelli” IRCCS Hospital in Rome.

I am vice-chair of the Neuromuscular Imaging group of the Euro-NMD project (European Reference Network), Associate Editor of the journals Neuromuscular Disorders and Frontiers in Neurology-Neuromuscular Diseases, and leader of the Imaging Working group of the FSHD European Trial Network. I am also current member of the Limb-Girdle Muscular Dystrophy Expert Panel of the Clinical Genome Resource Consortium, and of the European Neuromuscular Center (ENMC) Research and Mentoring Program Committees. Finally, I have recently been awarded an Academy of Medical Sciences (AMS) Professorship.


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Research

My clinical and research activity has been always focused on neuromuscular disorders and more specifically on the diagnosis and follow-up of genetic myopathies and muscular dystrophies, which are disorders leading to progressive degeneration of the skeletal muscle.

During my PhD I developed an interest in muscle imaging, especially in the description of muscle MRI “patterns” of involvement that could help in the diagnostic workup of known and novel diseases. With my research group and in the context of international consortia, such as the one established by the MYO-MRI COST action, I led projects devoted to the identification of the imaging patterns in several different muscle diseases, such as Facioscapulohumeral muscular dystrophy (FSHD) type 1 and 2, dystrophinopathies, distal myopathies, inclusion body myositis and limb girdle muscular dystrophies. This clinical research effort is still ongoing with planned projects to study the patterns of involvement of still uncharacterized myopathies, also exploiting artificial intelligence. Since 2019, I have been also co-leading the Italian Network on Myofibrillar and Distal myopathies (ITA-MeD), endorsed by the Italian Association of Myology (AIM), and another line of research regards the collection and characterization of the patients affected by these rare disorders establishing genotype-phenotype correlations.

In parallel to this, a major focus of my translational research has been the discovery of imaging and, more recently, tissue and circulating biomarkers in a particular form of muscular dystrophy, Facioscapulohumeral muscular dystrophy (FSHD).

With the aim to better elucidate the pathomechanisms underlying this disease, I conducted studies to clarify the meaning and the value of the early muscle MRI changes preceding irreversible muscle damage, and to characterize these lesions at the molecular level, taking also advantage from the implementation of mini-invasive techniques other than muscle biopsy. We implemented an innovative protocol of long-term muscle microdialysis, which allowed us the in vivo sampling of the skeletal muscle intercellular milieu with the aim to identify inflammatory cytokines and other proteins in the interstitial fluid through either targeted or holistic (proteomic) approaches. We described the existence of an inflammatory milieu that precedes (and possibly promotes) muscle degeneration through still obscure but likely disease-specific mechanisms. For my research on FSHD I was awarded the Patricia Salustri 2015 prize of the Association “Amis FSH” and the 2021 FSHD Society Young Investigator Award.

Moreover, FSHD is a slowly progressive disease and the possibility of developing sensitive outcome measures and biomarkers reflecting disease activity and progression is of paramount importance now that therapeutic strategies are approaching the clinical scenario. Therefore, my main actual goal is to fully elucidate the cellular and molecular pathways driving muscle wasting in FSHD implementing cutting-edge omic technologies directly to the study of patient derived tissue samples. A specific focus is devoted to the role of inflammation in active disease, since this could lead to targeted treatments, and to the identification of molecules that could constitute useful biomarkers, ideally mechanistic in nature.




Publications