Pedrini Elena, MSc, PhD
Biotechnologist, Biologist, PhD
- Master Degree in Medical Biotechnology, with honors
- Master Degree in Molecular and Cellular Biology
- Ph.D. in Medical Genetics.
National qualification as Biologist.
- From 2019: Helathcare Researcher at the Department of Rare Skeletal Disorders, IRCCS - Istituto Ortopedico Rizzoli; laboratory referent, coordination of diagnostic and research activities
- 2015-2018: Member of the health technical committee at the Italian health ministry
- 2007-2019: Researcher at Medical Genetics Department, IRCCS - Istituto Ortopedico Rizzoli
- 2003-2004: Internship at the CSS Mendel Institute (Rome)
- 2002-2007: Research fellow at the Medical Genetic Department, IRCCS - Istituto Ortopedico Rizzoli
Fluent English, Basic French.
- Sanger and NGS (targeted-sequencing, WES) sequencing, including data analysis
- DHPLC, HRM, MLPA screening
- Overall basic knowledge of genetics and molecular biology laboratory
- Evaluation of microRNA role in skeletal diseases
- SNPs/CNVs genotyping
- Evaluation of CNV role in skeletal diseases by NGS and Digital PCR
- Good computer skills
- Good knowledge on disease-Registry
- Good knowledge on biological samples management and Biobanks
- Good knowledge of predictive software tools and mutation databases
- Knowledge of HTA analyses.
Theses supervisor. Staff support and training. Participation as speaker at educational symposia.
Author of scientific publications.
Oral presentation at several national and international congresses about Human Genetics and Rare Skeletal Diseases.
- PI in two national projects: Bando Giovani Ricercatori “Alessandro Liberati” 2013 (funded by the Emilia-Romagna Region), Bando Giovani Ricercatori (funded by the Ministry of Health). Staff member or significance contribution to national and international research projects: "Tecnopolo" project, “Next-generation Sequencing and Rare Diseases” project and “SUPER: Supercomputing Unified Platform - Emilia-Romagna” (funded by the Emilia-Romagna Region), Progetto di Grande Rilevanza Italia-USA (funded by Ministry of Health), ERANET TRANSCAN, ERASMUS+ and ERN BOND project (funded by EU).
- Molecular diagnosis of genetic diseases with both NGS and traditional techniques
- Pathogenic mechanisms of bone and cartilage diseases (oncological and not)
- Genotype-phenotype correlation studies
- Machine Learning studies for personalized medicine
- Drafting, coordination and participation in national and international research projects
- Biobanking and sample data management
Genetic screenings for skeletal rare diseases. Genotype-phenotype correlation studies. Molecular mechanisms of skeletal dysplasia. Research activity on bone and cartilage. Next-Generation sequencing for both diagnostic and research activities. Clinical bioinformatics. Epidemiology.