Born on 30/09/71 in Lyon
H-index: 70 (Google Scholar)
SIGAPS Score 2000-2020: 4352
Credentials
- University Professor, Bourgogne – Hospital Practitioner, Dijon University Hospital
- Accreditation to supervise research
Affiliations and main activities
- Hospital Service
- Affiliation: Genetics Centre, Children's Hospital, Dijon University Hospital
- Main activities: Consultations on genetics, co-ordination
- Head of the Genetic Diagnostic Centre for rare genetic diseases and genetic predisposition to cancer, Co-ordinator of the Reference Centre for “Developmental Disorders and Malformative Syndromes in the Est region”, Co-ordinator of the “Marfan's syndrome” and “Mitochondrial Diseases” Centres of Expertise, Dijon University Hospital
- Research
- Affiliation: INSERM 1231 Genetics of Developmental Disorders (GAD) Team, University of Bourgogne.
- Main activity: Deputy head of the GAD team, constitution and phenotyping of patient cohorts, description of new syndromes with developmental abnormalities, identification of new genes involved in developmental abnormalities.
- Teaching
- Affiliation: Faculty of Medicine, University of Bourgogne.
- Main activity: Teaching Medical Genetics at various levels (scholastic, post-graduate, patient, public).
Expertise
- Genetics: Dysmorphology, intellectual disability, non-specialised medical genetics, genetic predisposition to cancer.
University background
- 1994: Appointed junior doctor, Hôpitaux de Montpellier
- 1998: MA Molecular Genetics of Developmental Disorders and Oncogenesis (Université Paris V)
- 1999: IUD Hereditary Metabolic Diseases (University of Nancy), PhD Dissertation (Université Paris V), Post-graduate Diploma in Paediatric Studies (Université Paris V)
- 2000: Genetics specialisation equivalency
- 2002: Applied Sciences Thesis (Université Paris V)
- 2004: Gained accreditation to supervise research
- 2010: Formation and management of orientation team EA 4271 “Genetics of developmental disorders, University of Bourgogne
- 2016: Gained the IUD in Pharmacogenetics and Predictive Medicine (Paris VII)
- 2017: Coordination of the IUD in Predictive Medicine and Personalised Medicine
- 2017: Certified GAD team at UMR INSERM 1231
Work experience
- 1994-1999: Resident in the context of a DU in Paediatrics (APHP Paris)
- 1999-2000: Chief Resident, Genetics Departement, Pr Munnich, Hopital Necker-Enfants Malades, APHP Paris.
- 2000-2002: University Hospital Resident, Medical Genetics Department, Pr Huet, Hopital d'Enfants, CHU Dijon.
- 2002-2005: Associate Professor –Hospital Practitioner, Medical Genetics Department, Pr Huet, Hopital d'Enfants, Dijon.
- 2005-: Professor – Hospital Practitioner, Medical Genetics Department, Pr Huet, Hopital d'Enfants, Dijon.
- 1994-1999: Duties as junior doctor as part of the Higher Degree in Paediatric Studies (APHP Paris)
- 1999-2000: Assistant Specialist Registrar, Department of Genetics, Prof. Munnich, Necker Hospital for Sick Children, APHP Paris.
- 2000-2002: Clinical Lecturer, Medical Genetics Department, Prof. Huet, Dijon University Children's Hospital.
- 2002-2005: University Lecturer - Medical Genetics Department, Prof. Huet, Children's Hospital, Dijon.
- 2005-: University Lecturer - Medical Genetics Department, Prof. Huet, Children's Hospital, Dijon.
- 2013-: General Co-ordinator of the University Hospital Federation TRANSLAD (Translational Medicine and Developmental Disorders) Bourgogne Franche Comté
- 2014-: National head of the AnDDI-Rares (Developmental Disorders – Intellectual Disability) network
- 2016-: HealthCare Provider for the European Reference network ITHACA and head of WP teaching and training
- 2017-: Scientific director of the Institute of Genomic Medicine and Immunology (GIMI) Bourgogne-Franche Comté
- 2020 : General Coordinator of the Bourgogne Franche-Comté Rare Diseases Expertise Platform (PEMR BFC)
Research work (up to 17/11/2020)
