Site: Timone University Hospital – Reference Centre for hereditary metabolic diseases
Coordinator: Pr. Brigitte Chabrol
Composition: 12 CRMRs, 3 CCMR, 17 Patients’ associations, 30 Diagnostic laboratories
Person to contact: Madame Catherine Pansera, filiereG2M@ap-hm.fr
Diseases treated and number of patients
Hereditary Metabolic Diseases:
Metabolic channels and diseases:
11.000 patients are being followed up to date in G2M.
- To improve the patient’s therapeutic pathway and overall management
- To study opportunities for extending neonatal screening
- To lead expert groups with the governing authorities to make sure that the patients are financially covered
- To encourage the creation and enlargement of the registers to collect data and the National Data Base on Rare Diseases
- To reinforce the interaction between the players in basic, translational and clinical research
- To encourage the coordination of health and the medico-social and educational aspects.
- To undertake action in favour of training in the sector
- To reinforce cooperation with other actions and European programmes
- To reinforce cooperation and reciprocal information with the Patient associations.
- To describe any possible connections with other sectors of health on rare diseases and the knowledgeable societies.
Reference centres for Hereditary and Metabolic Diseases
Competence Centres for Hereditary Metabolic Diseases