Federica is a researcher in Fernando Gianfrancesco’s Bone Diseases and Tumors laboratory. Her main scientific interest is understanding the molecular basis of genome instability in cancer. Combining her expertise in cancer genetics with her recent transition into cancer cell biology, she investigates the mechanisms underlying genome integrity maintenance and metabolic regulation.

Using imaging and next-generation sequencing technologies, her research explores the mechanisms governing cell cycle progression, mitotic division, DNA damage response, and metabolic reprogramming in both physiological and cancerous contexts. To achieve this, she employs mouse models and CRISPR/Cas9-based cell systems.

• 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 Jan 4;6(1):9. doi: 10.1038/s42003-022-04392-8.
• A mutation in the ZNF687 gene that is responsible for the severe form of Paget’s disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model. Russo S,Scotto di Carlo F, Maurizi A, Fortunato G, Teti A, Licastro D, Settembre C, Mello T, Gianfrancesco F.Bone Res. 2023 Mar 14;11(1):16. doi: 10.1038/s41413-023-00250-3.PMID: 36918542
• The two faces of giant cell tumor of bone. Scotto di Carlo F, Whyte MP, Gianfrancesco F.Cancer Lett. 2020 Oct 1;489:1-8. doi: 10.1016/j.canlet.2020.05.031. Epub 2020 Jun 2.PMID:32502498
• 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 Oct;35(10):1974-1980. doi: 10.1002/jbmr.3993. Epub 2020 Mar 11.PMID:32106343
• 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 Aug;35(8):1387-1398. doi: 10.1002/jbmr.3964. Epub 2020 Feb 19.PMID:31991009

Federica joined Fernando Gianfrancesco’s Bone Diseases and Tumors laboratory in 2014 to complete her master’s thesis. In 2018, she earned a PhD in Molecular Life Sciences from the University of Campania Luigi Vanvitelli. During her doctoral research, she applied next-generation sequencing technologies and identified the loss of Profilin 1 as a recurrent feature in osteosarcomas, highly aggressive tumors characterized by significant genomic instability. This discovery led her to explore the field of genome integrity regulation, where she uncovered a novel role for Profilin 1 in ensuring mitotic fidelity through cytoskeletal regulation.

With the support of an AIRC postdoctoral fellowship, Federica joined Renata Basto’s Biology of Centrosomes and Genomic Instability laboratory at Institut Curie (Paris, France), where she investigated the impact of Profilin 1 inactivation on cell cycle regulation and DNA damage response checkpoints.

Currently, her research at IGB focuses on defining the mechanistic role of Profilin 1 in cell cycle progression and metabolic regulation, as well as dissecting the underlying mechanisms disrupted in cancer.

Federica has received several national and international awards, including the New Investigator Award from the European Calcified Tissue Society (ECTS) and the Young Investigator Award from the American Society for Bone and Mineral Research (ASBMR). She was also awarded a postdoctoral fellowship from Fondazione Umberto Veronesi and has been the Principal Investigator of two projects funded by ECTS and the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases (SIOMMMS), which aimed to further investigate the role of Profilin 1 in maintaining genome integrity in osteosarcoma.