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Maioli Margherita, MSc

CV

Date of Birth
29/12/1986
Qualification

Biologist

Current assignment

Biologist - Research assistant

Title of qualification awarded

2012: Master Degree in Medical Biology at the University of Bologna, with honors.

Other qualifications awarded

2012: National qualification as Biologist.

Positions held
  • From 2019: Contract Biologist with research support functions
  • 2012-19: Biologist at the Department of Medical Genetics and Orthopaedic Rare Diseases
  • 2010-12: Internship at the Department of Medical Genetics and Orthopaedic Rare Diseases.
Languages

Fluent English.

Technologies
  • Molecular biology techniques: PCR, PCR RealTime, High Resolution Melting (HRM), dHPLC, MLPA, automatic sequencing with Sanger method and with the Next Generation Sequencing (NGS) platform
  • Knowledge and use of the Internet, MS Office applications, the Galaxy open source server and the GeDI database, GDPR-compliant platform for the collection and use of clinical and genetic data. Use of specific support software for molecular biology techniques: Primer3, OligoCalc, Primer-BLAST, ARGUS X1, CodonCode Aligner, Sequencing Analysis 5.4, SeqPilot, Coffalyser and Rotor-Gene Q Series.
  • Molecular analysis of genes related to rare pathology Osteogenesis Imperfecta.
Scientific activities
Participation in conferences and training events with national and international specialists in the field of collagenopathies, pathology registers and biobanks. Participation as a speaker at the 28th, 29th, 30th, 31st, 34th and 35th National Congress of As.It.O.I. (Italian Association of Osteogenesis Imperfecta).
Collaboration in the preparation of a Diagnostic Therapeutic Assistance Path (PDTA) of the Emilia-Romagna Region for patients suffering from rare pathology Osteogenesis Imperfecta.
Clinical and/or Scientific interests

Clinical and molecular genetic for the study of skeletal rare diseases, genotype-phenotype correlations and pathogenic mechanisms of skeletal rare diseases.