Facing a too rare disease in an Association: The AFG experience on stimulating Research

1. edia publications otivation of Researchers editation for cooperation Too often perceived as a cultural brain activity, but: Key in the battle for financing Key for scientific mindsetting A prime competitive element, competition is the mother of progress! Need to balance with cooperation Fundamental freedom of a researcher: choose their specialisation! Patient - Researcher contacts is a top motivator mice or flasks are not! Attract researchers, PhD students indset of the community onetary backing issing track record Liver G6pc -/- INSERM and AFG teaming up in the Grand Raid des Dentelles du Ventoux Renal G6pc -/- Facing a too rare disease in an Association:The AFG experience on stimulating Research Anya and Noemy have Glycogen storage disease Type 1a (GSD-1a), a « RD »: less than 10/million births, affecting the sugar metabolism. GSD represent about 20 forms of inherited diseases, totaling 25/million births. Philip Maes is their grand-dad. Since 2008, he is the President of AFG “Association Francophone des Glycogénoses”. He is also member of the AMR (Alliance Maladiies rares) research commission. Goals • AFG : mutual help between patients and sharing information. Research being secondary goal. • AMR Research Commission : « think tank » on research issues for 200 member associations. • Presidents privilege of credibility: • As benevolent humanitarian, you gain a level of undiscussed credibility • Stay integer, but dare too talk! • Be proud with your research involvement • Presidents have a stronger PR opportunity than Research Directors… Key ingredients for obtaining budgets for research When investing in research, you are more apt to collect gifts! Use wisely, guided by Scientific Council Research spending of an Association should catalyze funding How can an association help? First project very difficult! Willingness of a patient organization helps • Seeking cooperation on the nat’l level: • Scientific council, to network the science community • Network with horizontal structures (AMR, AFM, Eurordis) … • And on Int’l level: • Liaise with peer organizations • Organize together WW approaches First W-W GSD presidents meeting, Milan 2009 Organising WW congress helps on all fronts! Example : Genetic research on GSD-1a Team 2 : Gene therapy 2000-2007 : «  a very promising idea, without funding » Today: world leading genetic project, in translational phase GSD1a patients Team 3 Liver tumours Team 1 : Genetic testing And project coordination peditricians Team 4: Metabolic perturbations in the liver End-stage pathology of the kidneys Conclusion : A proactive association has unique ways to help transform the “good idea” into a world-recognized research project Intestinal G6pc -/- team 1: INSERM U855/Université Lyon "Nutrition et cerveau". Dr. Fabienne Rajas team 2: INSERM U1064/ Université de Nantes. Dr. Tuan Huy Nguyen team 3: University Medical Center Groningen,  Pr. G.P.A. Smit team 4: INSERM U674,"Génomique Fonctionnelle des tumeurs solides",  Paris. Pr. Jessica Zuckman-Rossi