Biosketch: Fernando Gianfrancesco is the Research Director and Group Leader at the Institute of Genetics and Biophysics (IGB) of the National Research Council (CNR) of Italy, where he currently directs a research group at the Bone Diseases and Tumours Laboratory. Among the several awards he has received are the Distinguished Visiting Researcher Award from Griffith University in Australia and the European Calcified Tissue Society (ECTS)/Amgen Bone Biology Fellowship in Europe. Over the past few years, he has contributed to the identification of several genes causing human diseases, including the gene responsible for Incontinentia Pigmenti and the gene predisposing to Uric Acid Nephrolithiasis. In the last ten years, he has focused his scientific interest on late-onset skeletal disorders, using Paget’s disease of bone as a model, and has investigated the molecular mechanisms responsible for its neoplastic transformation. In this line of research, he identified ZNF687 as the gene responsible for Giant Cell Tumour associated with a severe form of Paget’s disease of bone and PFN1 as the gene responsible for early-onset Paget’s disease of bone degenerating into osteosarcoma transformation. He is also involved in an ongoing study aimed at revealing the connections between bone marrow mesenchymal and haematopoietic lineages, whose alterations cause skeletal diseases and bone tumors.
Roles: Spoke 2 WP2 Task 2.8 contributor
Contacts: fernando.gianfrancesco@igb.cnr.it
Website: https://x.com/F_Gianfrancesco
Research interests