Our lab combines genetics and cell biology to study the molecular bases of chromosomal instability and cell fate commitment in bone tumors and diseases. We recently identified two responsible genes: the PFN1 gene, essential to ensure proper cell division and cytoskeleton organization, and the ZNF687 gene, which plays an important role in the maintenance of bone homeostasis and the regulation of osteoblast/adipocyte commitment. To investigate how mutations in these genes affect their function, we use mouse and CRISPR-based cell models.
- Profilin 1 deficiency drives mitotic defects and reduces genome stability. Scotto di Carlo F, Russo S, Muyas F, Mangini M, Garribba L, Pazzaglia L, Genesio R, Biamonte F, De Luca AC, Santaguida S, Scotlandi K, Cortés-Ciriano I, Gianfrancesco F. Commun Biol. 2023, 6(1):9.
- The Osteoclast Traces the Route to Bone Tumors and Metastases. Russo S, Scotto di Carlo F, Gianfrancesco F. Front Cell Dev Biol. 2022, 10:886305.
- The two faces of giant cell tumor of bone. Scotto di Carlo F, Whyte MP, Gianfrancesco F. Cancer Lett. 2020; 489:1-8.
- ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget’s Disease of Bone: Implications for Clinical Pathology. Scotto di Carlo F, Pazzaglia L, Mumm S, Benassi MS, De Chiara A, Franchi A, Parafioriti A, Righi A, Esposito T, Whyte MP, Gianfrancesco F. J Bone Miner Res. 2020; 35:1974-1980.
- The Loss of Profilin 1 Causes Early Onset Paget’s Disease of Bone. Scotto di Carlo F, Pazzaglia L, Esposito T, Gianfrancesco F. J Bone Miner Res. 2020, 35:1387-1398.
- ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. Divisato G, Formicola D, Esposito T, Merlotti D, Pazzaglia L, Del Fattore A, Siris E, Orcel P, Brown JP, Nuti R, Strazzullo P, Benassi MS, Cancela ML, Michou L, Rendina D, Gennari L, Gianfrancesco F. Am J Hum Genet 2016, 98:275-286.
Fernando Gianfrancesco is Research Director at the Institute of Genetics and Biophysics of the National Research Council of Italy (IGB-CNR) in Naples, where he leads the Bone Diseases and Tumors Laboratory. Since the beginning of his career, his projects focused on the identification of causative genes involved in the pathogenesis of several genetic diseases (Nature Genetics 1996, 13:227-229; Nature 2000, 405:466-72; Am J Hum Genet 2003, 72:1479-91; Hum. Mol. Genet. 2013, 22:3654-3666). He received several important awards, including the “Distinguished Visiting Researcher Award” from Griffith University, Australia (2008), and the “Bone Biology Fellowship” from European Calcified Tissue Society (2012).
He has carried out various research experiences at foreign institutions (EBI-EMBL, United Kingdom; University of Algarve, Portugal; Griffith University, Australia; Duke University, USA; National Institute on Aging (NIA), USA).
From 1995 to date, the scientific activity of Dr. Gianfrancesco has resulted in the publication of 75 manuscripts with a total number of 3192 citations and an H-index of 30.
+390816132221 
federica.scotto@igb.cnr.it
Project: Federica joined Gianfrancesco’s lab in 2014 for her master thesis. In 2018, she received her PhD in Molecular Life Sciences from University of Campania “Luigi Vanvitelli”. During her PhD thesis, she identified the loss of Profilin 1 as recurrent theme in osteosarcomas, aggressive tumors with a high genomic instability. Currently, Federica’s research is focused on mechanistically defining the role of Profilin 1 in the regulation of mitosis and maintenance of chromosomal stability by using CRISPR/Cas9-based cell models, fixed and live cell imaging, and next-generation sequencing technologies. She received several national and international awards, including the “New Investigator Award” by European Calcified Tissue Society, and the “Young Investigator Award” by American Society for Bone and Mineral Research. She received a postdoctoral fellowship by Fondazione Umberto Veronesi, and is Principal Investigator of a project funded by the Italian Society of Osteoporosis, Mineral Metabolism and Skeleton Diseases (SIOMMMS) to deepen the role of Profilin 1 in genome integrity maintenance in osteosarcoma.
+390816132221 sharon.russo@igb.cnr.it
Project Title: Understanding the role of ZNF687 in bone metabolism and the effect of the P937R mutation causative of giant cell tumor degeneration in Paget’s disease of bone. Sharon joined Gianfrancesco’s lab in 2018 for her master thesis. Currently, during her PhD in Molecular Life Sciences, she is particular interested in shedding more light on the role of the ZNF687 transcriptional factor during fate commitment of skeletal stem cells. For this purpose, Sharon gained experience in working with mouse models, which she uses to perform histological analyses and in vitro cell differentiation and characterization.
+390816132221 marianna.ielasi@igb.cnr.it
+390816132221 daniela.esposito@igb.cnr.it
+390816132221 rossella.decini@igb.cnr.it
+390816132221 maria.lambiase@igb.cnr.it
