- WP1: The role of genetic factors, the circadian clock and signalling pathways in tendinopathies
- Secondment to ISMMS, June -December 2017
Alfredo is a postdoctoral research in the laboratory headed by Professor Anna Teti at the University of L’Aquila, Italy. He is experienced in genetic bone diseases, mainly in autosomal recessive forms of osteopetrosis (ARO), both osteoclast-rich and osteoclast-poor, working on experimental approaches to treat them. Recently, he developed projects on extracellular vesicle involvement in bone, their role in the pathogenesis of rare and common bone diseases, and their use as therapeutic and diagnostic tools for bone pathologies.
In RUBICON, Alfredo visited the Connective Tissue Laboratory (CTL) of Professor Francesco Ramirez at Icahn School of Medicine at Mount Sinai (ISMMS) in New York, USA, for 6 month. At ISMMS Alfredo participated ina study focused on Fibrilin-1 (Fbn1), a component of the extracellular matrix that plays important functions in maintaining normal tissue physiology, mechanical properties and TGF beta signaling. Fbn1 is mutated in Marfan syndrome with several prominent manifestations, including long bone overgrowth.