Born on 14/09/1976 in Barletta (Italy)
Credentials
- Senior Hospital Research Engineer
Affiliations and main activities
- Hospital Service
- Affiliation: Functional Innovation Unit for Rare Disease Diagnostics (UF6254), Biology Cluster, Dijon Bourgogne University Hospital Centre (Leaders: Pr Christophe PHILIPPE/Pr Christel Thauvin-Robinet)
- Main activities: Interpretation of exome data, Interpretation of high throughput sequencing data of splicing variations, Interpretation of genome sequencing data, Participation in quality procedures and supervision of the technical team
- Research
- Affiliation: Inserm UMR 1231 Genetics of Developmental Disorders (GAD team), University of Burgundy-Franche Comté (Leaders: Pr Laurence Olivier-Faivre/Pr Christel Thauvin-Robinet)
- Main activity: Use of multiomics for the fight against diagnostic wandering, identification of new genes involved in rare diseases, phenotypic extension of genes already known in human pathology, development of innovative strategies for reanalysis of exome/genome data, functional studies of ultra-rarse diseases
- Teaching
- Place: Faculty of Medicine, University of Bourgogne.
- Main activity: Teaching Medical Genetics to various audiences (students, postgraduates, patients, public), student supervision.
Expertise
- Genetics: development of innovative genomic technologies in rare diseases
University background
- 2006: Diploma in Biological Sciences (Level BAC+5) - Molecular Biology Class, University of Pisa (Italy), Note 110/110, summa cum laude (equivalent to the note "20/20 - Exceptional Mention"), "Multipotent retinal fate induction in Xenopus laevis' animal cap cells", Thesis supervisor: Pr Robert Vignali
- 2013 - Doctorate of Science - Neurobiology Class, University of Basel (Switzerland) - Friedrich Miescher Institute for Biomedical Research (FMI), Note 5.5/6, mention magna cum laude (equivalent to the note "18.3/20 - Exceptional mention"), "Transcriptional and epigenetic regulation of hindbrain development in the mouse", Thesis Director : Pr Filippo Rijli
- 2014 - 2015: University degree: High throughput sequencing and rare diseases, experimental approaches and bioinformatics tools ", Unité Mixte de Développement Professionnel Continunel en Santé (IMDPC Santé) - Université de Bourgogne - Dijon - France
2019 - Scheduled submission of the application file for the Habilitation à Diriger les Recherches to the UBFC Academic Council
Work experience
- January 2007 - December 2007, Illkirch - France: Institute of Genetics and Molecular and Cellular Biology (IGBMC), Pre-doctoral internship
- January 2008 - April 2013, Basel - Switzerland, University of Basel - Friedrich Meischer Institute for Biomedical Research (FMI), Doctoral internship
- May 2013 - July 2017, Basel - Switzerland, Novartis Institute for Biomedical Research (NIBR), Post-doctoral fellowship
- May 2016 - : Senior hospital research engineer in Molecular Genetics, Functional Unit Innovation in Rare Disease Genomics Diagnostics (UF6254) at the University Hospital of Dijon Burgundy and Inserm team UMR 1231 GAD, FHU TRANSLAD
Research work (up to 17/11/2020)
