Medical Geneticist

Medical Geneticist

Medical doctor - MD (July 11th, 2006), Alma Mater Studiorum - University of Bologna, with grade 110/110, with honors.

• From October 1st, 2011 to December 31st, 2012: occupation as Medical Geneticist at the Department of Medical Genetics and Orthopaedic Rare Diseases, Rizzoli Orthopedic Institute, Bologna.
• From February 1st, 2013 to January 31st, 2014: occupation as Medical Geneticist at the Department of Medical Genetics and Orthopaedic Rare Diseases, Orthopedic Rizzoli Institute, Bologna.
• From March 12th, 2014: occupation as Medical Geneticist for clinical research at the CLIBI Laboratory Department of Medical Genetics and Orthopaedic Rare Diseases, Orthopedic Rizzoli Institute, Bologna.

English: good.

Knowledge and use of MS Office, GePhcard (database for Genotype-Phenotype correlation in use at the Orthopaedic Institute).

Posters and presentations:

• "Displasia scheletrica: inquadramento del paziente". Presentation for the Rare Diseases day meeting "Giornata mondiale delle malattie rare: formazione, informazione e ascolto in Emilia-Romagna - III edizione” March 3rd, 2012, Bologna Italy.
• For the XV National meeting of the Italian Society of Human Genetics (Congresso Nazionale Società Italiana Genetica Umana SIGU) November 21st-23rd, Sorrento Italy: "Rara mutazione nella sequenza segnale N-terminale del gene COL1A1: caso clinico e studio funzionale su fibroblasti fetali" -M. Gnoli, M. Maioli, M.F. Bedeschi, F.V. Gentile, C. Giunta, U. Lindert , F. Lalatta, L. Sangiorgi (poster); "Meloreostosi: proposta studio multicentrico italiano nel corso del Gruppo di Lavoro Genetica Clinica del XV Congresso Nazionale Società Italiana Genetica Umana (SIGU)" (Presentation).
• 11st Biennal Meeting ISDS, August 28th-31st, 2013, Bologna Italy: "Myopathy in Multiple Epiphyseal Dysplasia: is the association related to specific mutations or is it part of clinical variability? First report with mutation in COMP gene t3 repeats" - M. Gnoli, A. Pini, E. Pedrini, L. Sangiorgi (Poster); "A heterozygous mutation in the signal peptide of COL1A1 impairs cellular transport of procollagen 1 and results in lethal Osteogenesis Imperfecta" -Gnoli M*, Bedeschi MF*, Maioli M, Giunta C, Lindert U, Rohrbach M, Gentile FV, Superti-Furga A, Lalatta F, Sangiorgi L (Presentation).
• For the XVI SIGU national congress, Rome,  September 25th-28th, 2013, postes: "Miopatia in displasia epifisaria multipla: si associa a particolari mutazioni oppure è parte della variabilità clinica? Primo caso con mutazione nei T3 repeats del gene COMP" - M. Gnoli, A. Pini, E. Pedrini, L. Sangiorgi; "Trasformazione Maligna In Esostosi Multiple: Quale Rischio In Età Giovane Adulta? Report di 7 Casi di Età Inferiore A 30 Anni" - M. Gnoli, E. Pedrini, L. Campanacci, M. Gambarotti, M. Tremosini, L. Sangiorgi.
• For the 'ESHG (European Society of Human Genetics) Conference 2014, Milan, Italy, May 31st – June 3rd, 2014, poster: "Melorheostosis and LEMD3 related sclerosing bone diseases: clinical, radiological and molecular characterization of an Italian series" - M. Gnoli, E. Pedrini, L. Campanacci, MF Bedeschi, A Wischmeijer, G. Tortora, A. Percesepe, F Gurrieri, MB Michelis, S Gallone, M. Tremosini,  L. Sangiorgi; "Genotype - phenotype correlation in 358 patients affected by dominant Osteogenesis Imperfecta" - M. Maioli, M. Gnoli, M. Celli, L. Sangiorgi.

Other Presentations:

• "Osteogenesi Imperfetta e Sindrome di Ehlers-Danlos a confronto", for the OI patients association meeting “L’Osteogenesi Imperfetta - Il percorso diagnostico, terapeutico, assistenziale dal bambino all’Adulto" (May 2-3rd, 2013, Milan, Italy).
• "I percorsi diagnostici dei test genetici", within the course “La genomica in Sanità pubblica. Evidenze e indicazioni per scelte appropriate In tema di test genetici” March 15th, 2014, Reggio Emilia, Italy.

Clinical and molecular genetics for study of skeletal rare diseases, genotype-phenotype correlation and pathogenic mechanism of skeletal rare diseases.