Medical Geneticist

Medical Geneticist at Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli

Medical doctor (MD) - Alma Mater Studiorum-Università di Bologna with grade 110/110 with honours. 11th July 2006
 

Medical Geneticist - Alma Mater Studiorum-Università di Bologna 70/70, 4th August 2011
 

• October 2011- December 2012 (from 10/01/2011 to 12/31/2012) occupation as Medical Geneticist at Department of Medical Genetics and Orthopaedic Rare Diseases, Orthopaedic Rizzoli Institute, Bologna. Genetic Counselling and collaboration in research activity in Medical Genetics and Orthopaedic Rare Diseases Department, Orthopaedic Rizzoli Institute
• February 2013- January 2014 (from 02/01/2013 to 01/31/2014: occupation as Medical Geneticist at the Department of Medical Genetics and Orthopaedic Rare Diseases, Orthopedic Rizzoli Institute, Bologna.
• March 2014-February 2016 (from 03/12/2014 to 02/29/2016) Medical Geneticist for clinical research at CLIBI laboratory Department of Medical Genetics and Orthopaedic Rare Diseases, Orthopedic Rizzoli Institute, Bologna
  Clinical evaluation and characterization of patients affected by skeletal rare diseases in a research project Genetic counselling and collaboration in research activity of Medical Genetics and Orthopaedic Rare Diseases Department, Orthopedic Rizzoli Institute
• March 2016-August 2016 (from 03/17/2016 to 08/16/2016)
  Medical Geneticist at Department of Medical Genetics and Orthopaedic Rare Diseases, Orthopedic Rizzoli Institute, Bologna
  Healthcare of skeletal rare disease patients, in particular for genetic counselling
  Medical Geneticist at Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli
• August 2016–June 2020 Medical Geneticist at Department of Medical Genetics and Orthopaedic Rare Diseases, Orthopedic Rizzoli Institute, Bologna. Healthcare of skeletal rare disease patients, in particular for genetic counselling
• July 2020 – Currently
  She works as Medical Geneticist at Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Via Pupilli 1, 40136, Bologna, Italy. Orthopedic Rizzoli Institute, Bologna.

English: good

• knowledge of Office (Word, Power Point, Excell), 
• knowledge of GePhcard (database for Genotype-Phenotype correlation in use at Medical Genetics Department of Orthopaedic Rizzoli Institute) and GE.D.I. data base (Genotype-Phenotype Data Integration platform, database in use at Department of Rare Skeletal Disorders of Orthopaedic Rizzoli Institute)

• Osteogenesis Imperfecta versus Ehlers Danlos Syndrome ("Osteogenesi Imperfetta e Sindrome di Ehlers-Danlos a confronto"
  ASITOI (Italian Osteogenesis Imperfecta Patients Organization) meeting (2-3rd May 2013 Milano),
• Diagnostic pathway and genetic testing in Public Healthcare (I percorsi diagnostici dei test genetici nell’ambito del corso “La genomica in Sanità pubblica. Evidenze e indicazioni per scelte appropriate In tema di test genetici”) 15th March 2014 Reggio Emilia
• Clinical evaluation and follow-up strategies for Osteogenesis Imperfecta patients 
  Course on Collagenopathies Bologna 17-19th March 2015
• "Osteogenesis Imperfecta Genetics: autosomal recessive forms" For National Meeting ASITOI (Italian Osteogenesis Imperfecta Patients Organization) meeting Bologna 27th June 2015
• Maffucci Syndrome and enchondromatosis: pathogenesis (Sindrome di Maffucci ed encondromatosi. Geni coinvolti nella patogenesi) 
  National Meeting Vascular Anomalies Society SISAV (Società Italiana per lo Studio delle Anomalie Vascolari) Reggio Emilia 16th September 2016 
• “Malattia di Ollier-Maffucci, punto della situazione e chiarezza dal punto di vista genetico Meeting of ACAR Association (Associazione Conto Alla ROVESCIA per la diffusione e della informazione e la ricerca sulla malattia esostosante e sulla sindrome di Ollier/Maffucci) Tirrenia, 5, 6, 7th May 2019”;
• “Presa in carico del paziente affetto da Esostosi Multiple”,  “National Meeting on Osteopathies: “, “Congresso Nazionale OSTEOPATIE METABOLICHE IN ETA’ PEDIATRICA “Nuove frontiere diagnostiche e terapeutiche” Roma 13-15th December 2019
• “Malattie genetiche con fragilità ossea e PDTA Regione Emilia Romagna” Fragilità ossee: realtà e prospettive dalla ricerca IOR, World Osteoporosis Day, IRCCS Istituto Ortopedico Rizzoli, Bologna, 20th October 2021
• Presentation “Osteogenesi Imperfetta”, webinar “Bone Day 2022” – Italian Society Pediatric Genetic Diseases (Società Italiana Malattie Genetiche Pediatriche e Disabilità Congenite (SIMGePed)) 07th June 2022
• Inquadramento del paziente pediatrico con malattia rara scheletrica”, Course on Pediatric Orthopedics (Corso di aggiornamento in ORTOPEDIA e TRAUMATOLOGIA PEDIATRICA), Bologna, 06th July 2023
• “Un caso clinico multidisciplinare, come può aiutarci il Genetista nel 2024”, meeting SIOOMS (Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Disease) (Congresso Regionale SIOMMS (Società Italiana dell’Osteoporosi del Metabolismo Minerale e delle Malattie dello Scheletro)), Bologna 16th March 2024
• "Inquadramento del paziente pediatrico con malattia rara scheletrica”, Course on Pediatric Orthopedics (Corso di aggiornamento in ORTOPEDIA e TRAUMATOLOGIA PEDIATRICA), 20th June 2024

Scientific contributions: Posters or Presentations during following meetings:

• Presentation for rare diseases day meeting "Giornata mondiale delle malattie rare: formazione, informazione e ascolto in Emilia-Romagna - III edizione” 03rd March 2012 Bologna
• Posters and Presentation "Meloreostosi: proposta studio multicentrico italiano” for XV National meeting of Italian Society of Human Genetics SIGU ", 21-23rd novembre 2012 Sorrento
• Posters for 11 st Biennal Meeting ISDS, 28-31st August 2013, Bologna
• Posters for XVI National meeting of Italian Society of Human Genetics SIGU (Congresso Nazionale Società Italiana Genetica Umana (SIGU) Roma 25-28 September 2013 
• for ESHG (European Society of Human Genetics) conference 2014 Milan May 31 –June 3, 2014
• Posters for XVIII National meeting of Italian Society of Human Genetics (Congresso Nazionale Società Italiana Genetica Umana (SIGU)) Rimini 21-24th October 2015
• Poster for XIX National meeting of Italian Society of Human Genetics (Congresso Nazionale Società Italiana Genetica Umana (SIGU)) 2016, Torino November 23-26th, 2016)
• Posters for 13th international conference Osteogenesis Imperfecta (Oslo ) Norway. August 27-30, 2017
• Poster for 13th ISDS 2017 (September 20-23rd 2017 Bruges , Belgium.
• Posters for XX National meeting of Italian Society of Human Genetics (Congresso Nazionale Società Italiana Genetica Umana (SIGU)) 2017 (Napoli November, 15-17th 2017)
• Posters for European Conference on Rare Diseases and Orphan Products (ECRD) 10-12th May 2018 Vienna Austria
• Poster for XXI National meeting of Italian Society of Human Genetics (Congresso Nazionale Società Italiana Genetica Umana (SIGU)) Catania 25-27th October 2018

Genetic counselling and collaboration in research activity of Department of Rare Skeletal Disorders, Orthopedic Rizzoli Institute
Clinical activity is genetic counselling and evaluation for diagnosis of genetic disorders or syndromes with bone involvement.
Main research interest is on clinical and molecular genetics of skeletal rare diseases, genotype-phenotype correlation and pathogenic mechanism of skeletal rare diseases.