International Biomarkers Conference on Rare, Polyfactorial and Neglected Diseases

Organized by Genopole® and Genethon, partner of the ADNA program (Advanced Diagnostics for New Therapeutic Approaches) coordinated by Mérieux Alliance, the conference gathered on December 10th2009 in Paris various actors implicated in the discovery, follow up and validation of new biomarkers in the development of a personalized medicine.

Conference first session was dedicated to monogenic rare diseases. Thomas Voit, Scientific and Medical Director of the Institute of Myology presented several types of biomarkers related to Duchenne Muscular Dystrophy (DMD). Two points were highlighted during his talk : the importance of miRNA which expression patterns vary according to the neuromuscular diseases, and the choice of the methodology used for identification of the biomarkers and their functions. Brenda Wong, Associate Professor of Pediatrics and Neurology at the Cincinnati Children’s Hospital Medical Center (USA) presented her team’s results on the use of biomarkers in the diagnostic as well as the pathophysiological and therapeutic follow up in DMD.
Besides, the talk of Marc Peschanski, Scientific Director of I-STEM laboratory was related to biomarkers use in screening of potential therapeutic compounds. The technique developed by I-STEM’s researchers allows to identify biomarkers in a population of embryonic stem cells carrying DM1 mutation combined with Steinert disease.