CHU Dijon-Bourgogne

The CHU Dijon-Bourgogne stands as the largest public healthcare institution in the Bourgogne Franche-Comté region, one of France’s 13 regions. It serves as both a primary healthcare centre and a regional referral facility. Leveraging its university structure, it fulfills a triple mission of care, education, and research and is committed to a continuous innovation process to provide patients with the optimal care. The CHU Dijon-Bourgogne is deeply involved in clinical research, acting as both a sponsor and an investigator centre, in a wide range of medical and paramedical fields.

The CHU Dijon-Bourgogne is recognised for its high level of expertise in rare diseases care, with 10 accredited Rare Diseases Reference Centres and 53 Rare Diseases Competence Centres. The Genetics Centre of the CHU Dijon-Bourgogne recently achieved the top rank in France's Medical Genetics Services, with two researchers ranked in the Stanford classification. It offers specialised consultations in diagnosis, clinical management and genetic counselling to patients suffering from or at risk of hereditary diseases and their relatives. The centre is particularly committed to provide access to diagnostic innovation, especially through high-throughput sequencing technologies, and offers genomic medicine consultations to shorten diagnostic odyssey.

Role within Screen4Care

The CHU Dijon-Bourgogne, represented by Pr Laurence Faivre, as the principal investigator for France, is one of the inclusion centres proposing extended NBS using the TREAT-panel within the Screen4Care project. The centre will include 1000 newborns in the study. The CHU Dijon-Bourgogne project team is also involved in the WGS approach for genetic NBS group (WP3) and, to a lesser extent, in the Project Management and Dissemination group (WP6). The team also participate to the WG related to his tasks and to the WG led by Eurordis (definition of the concept of actionability, of the ACT-Panel, NBS forum).