AMS Professorship award for Professor Giorgio Tasca, Newcastle University

My plan foresees pursuing high level translational research in the neuromuscular field and in particular in one frequent form of muscular dystrophy called Facioscapulohumeral muscular dystrophy (FSHD).

In my view, this requires the full characterization of the “human model”, which means deep phenotyping of patients and unraveling of the molecular dynamics in affected patients’ tissues with integrated approaches and cutting-edge technologies.

Comprehensive results can be obtained only through the unique combination of several methodologies, such as clinical assessment, muscle imaging, biomarker studies and molecular characterization of muscle biopsies and muscle cultures/explants.

This research philosophy could allow the disentanglement of disease pathophysiology and understanding of disease natural history, also making use of artificial intelligence tools for prediction.

An area of particular research interest is the application to the study of muscle biopsies of high resolution transcriptomics (such as spatial transcriptomics and single nuclei RNA sequencing) and proteomics technologies, in order to explain the peculiar inflammatory mechanisms involved in hereditary compared to acquired muscle disorders.

This grant will provide resources to speed up acquisition and production of results in the short and medium terms, to clarify disease mechanisms and patients’ trajectories that have been so far elusive.

Adequate financial support would warrant a thorough imaging phenotyping of the patients, with a complete analysis of muscle magnetic resonance imaging (MRI) data and correlation with clinical findings, and a characterization of a significant number of MRI-targeted biopsies which is key to really acquire robust knowledge about ongoing molecular phenomena leading to muscle wasting.

Specific questions to be answered by my projects are: what are the different cell populations composing FSHD muscle tissue, and their relative proportions, in the different stages of muscle damage, which of these cells present significant deregulations compared to controls, what is the role of inflammation and what are the inflammatory cell subtypes in the different stages, and how they interact with the neighbouring cells influencing regeneration and fibrosis.

I moved from Rome to Newcastle on the 9th of January 2023, and this achievement would be very timely facilitating a transition that is at the very beginning and could otherwise be challenging, even because my fundings in Rome are linked to already ongoing projects and cannot be transferred.

Leveraging its flexibility, it would also allow to acquire full long term independence, to early set the cornerstone to build a multidisciplinary research group with an attention to clinical researchers to be trained in the neuromuscular field, and to attract more resources and interest from different partners including industries.

In addition, the AMS Professorship would boost the possibilities of networking with other academics and healthcare professionals, and help to exchange ideas with people who have background, thoughts and expertise different from mine.

This will foster the integration in an already developed scientific environment, and finally contribute to my personal growth.

I am also currently planning to submit to MDUK a request for funding a more specific and limited transcriptomics project, although the applications do not overlap regarding the focus on inflammation.