In Centre de recherche des Cordeliers, Paris, France



  • Comprehensive coverage of biomarkers in :
    • Rare Genetic diseases
    • Polyfactorial Genetic diseases
    • Neglected diseases
  • New technical and computational tools for biomarkers analysis
  • How health policy may change after biomarker analysis implementation


Les biomarqueurs, outils devenus incontournables dans la découverte de nouveaux médicaments et le développement de la médecine personnalisée, représentent un véritable enjeu stratégique. Ce colloque international a pour objectif de présenter les avancées les plus prometteuses dans les domaines très spécifiques des maladies génétiques rares (neurologiques et maladies musculaires), des maladies polyfactorielles (diabète et rhumatologie) ainsi que des maladies très fréquentes mais négligées (malaria et tuberculose) qui frappent les populations des régions les plus pauvres et marginalisées. Lors de ce colloque une large place sera réservée aux développements techniques les plus évolués en matière d’outils informatique et des techniques utilisées dans le domaine des cellules souches embryonnaires pour le suivi des maladies monogéniques rares. Le colloque se conclura sur une présentation de l’incidence du développement des biomarqueurs sur la politique et l’économie de la santé.

This international biomarker conference intends to update our/your knowledge in very focused and specific areas of biomarkers, namely in rare genetic diseases (neurologic and muscle diseases), in two highly frequent multi-factorial genetic diseases (metabolism/diabetes and rheumatology) and in highly frequent but neglected diseases (malaria and tuberculosis) which occur mainly in the developing and poor world. The latest development of new technical and computational tools will be presented including the use of embryonic stem cells for following up rare monogenic diseases. The incidence of the development of biomarker use on health economy and health policy will be addressed before closing this conference.


Biomarker discovery and qualification remain a complex issue in the drug development and approval process as personalized medicine moves on. The emergence of innovative technologies and computational predictive models for biomarker use will have a tremendous impact on translational medicine and drug discovery. Biomarker-driven decisions will have positive effects both on diagnostics and therapeutics, they will have a major incidence in drug development and drug approval… Their general use should provide a better understanding of the molecular basis of diseases which will allow a shift from the current largely empiric and palliative pharmacopoeia to an evidence-based and causally-targeted one. However, the associated increased expenses to health care systems will need to be justified by demonstration of their appropriate clinical utility.
This meeting has been organized by Genopole® together with Genethon from Evry where a new clinical and translational research center focusing on rare genetic diseases and rare therapies for frequent polygenic diseases will open in 2012. The topics selected will address mainly the use of biomarkers in monogenic and multi-factorial genetic diseases as well as in some frequent neglected diseases. The incidence on health economy and policy on the French health care system will be addressed.