Filière G2M

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,


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.  

The players:

 Reference centres for Hereditary and Metabolic Diseases

Competence Centres for Hereditary Metabolic Diseases


National Network: