Development of advanced human preclinical models for FSHD modeling

Investigator: Stefano Testa PhD

Category: Research - Basic

FSHD still lacks effective preclinical models to fully unravel the underlying molecular mechanisms and predict the effect of new drugs and treatments. Although animal models have been used for decades, they often do not accurately reflect human conditions, leading to a high number of treatment failures in clinical trials. On the other hand, human cell models are a promising alternative, but they are often limited in achieving proper maturation and replicating pathophysiology. This project aims to create an advanced, human- based platform to model skeletal muscle tissue under both healthy and pathological conditions. By combining novel 2D and 3D cell culture systems (i.e., 3D bioprinting), which can faithfully replicate the architecture of skeletal muscle tissue, with electrical stimulation, we intend to develop mature and functional engineered muscle models. These models will be exploited for modeling FSHD, testing their reliability in reproducing the pathophysiological aspects of the disease. We aim to create a reference preclinical platform for drug screening and personalized medicine, increasing the quality of research results and reducing the need for animal models, research time and costs.