Christel Thauvin-Robinet

Born on 27/08/75 in Dijon

University Professor, Bourgogne – Hospital Practitioner, Dijon University Hospital
Accreditation to supervise research

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)

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

A best-practice project focussing specifically on the development of healthcare, research and education in the area of rare developmental disorder diseases.