Translational Research on Myopathies and Neurological Syndromes 

Our project focuses on addressing critical challenges posed by rare myopathies such as myotonic dystrophy type 1 (DM1), LGMDD2, and cancer-associated muscle cachexia (CAC). These conditions severely impact patients' quality of life and lack effective treatments. We aim to explore shared molecular mechanisms and identify novel therapeutic targets, focusing on microRNAs (miRNAs) and oligonucleotide drugs to modulate muscle dysfunction and wasting.

Key objectives include investigating miRNA contributions to muscle pathology, developing MSI2 gapmers for DM1 and related conditions, and pioneering innovative drug delivery strategies to enhance skeletal muscle targeting. Our team also leverages advanced models, including 3D tissue cultures and Drosophila systems, for efficient preclinical evaluation and drug screening.

The project involves leading national and international collaborations to integrate expertise across disciplines, ensuring robust outcomes. By addressing unmet medical needs and emphasizing translational research, we aim to bring cutting-edge therapeutic solutions closer to patients, fulfilling the goals of a Prometeo excellence group. For more information, visit our specific page.