In the last decade several discoveries revealed that skeletal tissue is not only relevant as biomechanical support and protection for the body, but it has a fundamental role in regulating the metabolism of many different organs throughout its endocrine function. A proper skeletal homeostasis is necessary to guarantee bone function and a deep understanding of skeletal biology is necessary to face human disease diagnosis and treatment. The study of rare diseases has been one of the major tool to dissect novel skeletal functions providing a better picture of bone biology.

Our research group is mainly focused on the generation of knock-out and knock-in cells and animal models (mice and zebrafish) for rare monogenic disease of cartilage and bone using traditional gene targeting technique based on embryonic stem cells homologous recombination as well as on the novel CRISPR/Cas gene-editing tool. The models are fully characterized from molecular, biochemical, morphological and histological point of view, they are used as tool to develop novel drug, and gene/cell therapy approaches. The PhD students will enter in a research group with long standing expertise in the field and many international collaborations. Projects on generation and characterization of novel disease models as well as the use of the ones already available for therapeutic purposes are available.

Recent Publications:

• Daponte V, Tonelli F, Masiero C, Syx D, Exbrayat-Héritier C, Biggiogera M, Willaert A, Rossi A, Coucke PJ, Ruggiero F, Forlino A. Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure. Matrix Biol. 2023 Aug;121:105-126. doi:10.1016/j.matbio.2023.06.003. Epub 2023 Jun 17. PMID: 37336269.
• Paganini C, Carroll RS, Gramegna Tota C, Schelhaas AJ, Leone A, Duker AL, O’Connell DA, Coghlan RF, Johnstone B, Ferreira CR, Peressini S, Albertini R, Forlino A, Bonafé L, Campos-Xavier AB, Superti-Furga A, Zankl A, Rossi A, Bober MB. Identification of potential non-invasive biomarkers in diastrophic dysplasia. Bone. 2023 Oct;175:116838. doi: 10.1016/j.bone.2023.116838. Epub 2023 Jul 16. PMID: 37454964.
• Besio R, Contento BM, Garibaldi N, Filibian M, Sonntag S, Shmerling D, Tonelli F, Biggiogera M, Brini M, Salmaso A, Jovanovic M, Marini JC, Rossi A, Forlino A. CaMKII inhibition due to TRIC-B loss-of-function dysregulates SMAD signaling in osteogenesis imperfecta. Matrix Biol. 2023 Jun;120:43-59. doi:10.1016/j.matbio.2023.05.002. Epub 2023 May 11. PMID: 37178987; PMCID:PMC11123566.