Born on 27/08/75 in Dijon
- University Professor, Bourgogne – Hospital Practitioner, Dijon University Hospital
- Accreditation to supervise research
Affiliations and main activities
- Hospital Service
- Affiliations: Genetics Centre, Children's Hospital, Dijon University Hospital
- Main activities:
- Medical geneticist at the Genetic Diagnostic Centre for rare genetic diseases
- Coordinator of the Rare Diseases Reference Centre for “Rare Intellectual Disorders”
- Co-director of the molecular genetics functional diagnostic unit “Innovation in genomic diagnostics for rare disease”
- Affiliation: UMR 1231 GAD Genetics of Developmental Disorders, University of Bourgogne.
- Main activity: GAD Team Manager, designing team strategies, building and phenotyping patient cohorts, describing new syndromes with developmental disorders, identifying new genes involved in developmental disorders and understanding their pathophysiological role.
- Affiliation: Health Sciences Training and Research Unit (UFR), University of Bourgogne.
- Main activity: Joint responsibility for teaching Medical Genetics to Medical Students (Integrated Teaching Programme, PC3) and responsibility for teaching Medical Genetics to midwifery schools, childcare students and IFSI (nursing institutes)
- Coordination at the national level
- Vice-president of the scientific committee of INSERM CSS2 “Rare Diseases, Haematology and Cancer” 2016-2021 contract
- Member of rare diseases plan 3 monitoring committee
- Head of the coordination and research arms of the AnDDI-rares network
- Member of the management team of the Genomic Medicine Plan 2025
- Deputy Director of ITMO Genetics, Genomics and Bioinformatics at Inserm
- Medical genetics in intellectual disability, neurogenetic and neuromuscular diseases and adult rare diseases. Prenatal diagnostics.
- 1995: Masters Certificate in Medical Genetics (C1) (Université Paris V).
- 1996: Masters Certificate in Cytogenetics (C2) (University of Tours).
- 1998: Nominated for the Concours de l'Internat [competitive examination for internship] Medical Specialisations. Dijon.
- 2001: MA “Molecular Biology of Developmental Disorders and Oncogenesis”, Honours with Distinction (Université Paris V)
- 2002: IUD Hereditary Metabolic Diseases (University of Nancy), IUD Myology (audit-only student) (Université Paris VI).
- 2003: Medical thesis (University of Bourgogne), First-class honours. Nominated for a thesis award.
- 2003: Higher Degree in Clinical, Chromosomal and Molecular Genetics
- 2009: Science Thesis (University of Bourgogne):
- 2011: Inserm interface hospital contract for 5 years on the RGHL “gene regulation in haematopoiesis and leukaemogenesis” Research team – Dr. Laurent Delva at the INSERM Research Centre UMR 866 Lipids, Nutrition, Cancer – Dr. Laurent Lagrost
- 1998-2003: Duties as junior doctor as part of the Higher Degree in Clinical, Chromosomal and Molecular Genetics (Dijon University Hospital)
- 2003-2005: Hospital Practitioner on contract in the Medical Genetics Department, Prof. Huet, Children's Hospital, Dijon.
- 2005-2013: Trainee then tenured Hospital Practitioner in the Medical Genetics Department, Prof. Huet, Children's Hospital, Dijon.
- 2008-2016: Coordinator of the “Bourgogne Franche-Comté Neuromuscular Diseases” Centre of Expertise
- 2010-: Formation and member of orientation team EA 4271 “Genetics of developmental disorders”, University of Bourgogne
- 2013-: University Lecturer & Hospital Practitioner, Medical Genetics Department, Prof. Huet, Children's Hospital, Dijon.
- 2014-: Member of the Dijon Healthcare Training and Research Board
- 2017-: Coordinator of the Rare Diseases Reference Centre for “Rare Intellectual Disorders”
- 2019-: Deputy Director of ITMO Genetics, Genomics and Bioinformatics at Inserm
- 2020-: Director of the research team Inserm GAD - UMR1231
Research work (up to 17/11/2020)