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

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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. Example : Genetic research on GSD- 1a 2000-2007 : « a very promising idea, without funding » Today: world leading genetic project, in translational phase Key ingredients for obtaining budgets for research How can an association help? edia publications otivation of Researchers editation for cooperation indset of the community onetary backing issing track record 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 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 INSERM and AFG teaming up in the Grand Raid des Dentelles du Ventoux 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… 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 First project very difficult! Willingness of a patient organization helps First W-W GSD presidents meeting, Milan 2009 Organising WW congress helps on all fronts! team 1: INSERM U855/Université Lyon "Nutrition et cerveau". Dr. Fabienne Rajas team 2: INSERM U1064/ Université de Nantes. Dr. Tuan Huy Nguy team 3: University Medical Center Groningen, Pr. G.P.A. Smi team 4: INSERM U674,"Génomique Fonctionnelle des tumeurs soli Paris. Pr. Jessica Zuckman-Rossi Team 2 : Gene therapy Team 4: Metabolic perturbations in the liver End-stage pathology of the kidneys Team 3 Liver tumours GSD1a patients Liver G6pc -/- Intestinal G6pc -/- peditricians Renal G6pc -/- Team 1 : Genetic testing And project coordination Conclusion : A proactive association has unique ways to help transform the “good idea” into a world-recognized research project

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Transcript of Facing a too rare disease in an Association: The AFG experience on stimulating Research Anya and...

Page 1: 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),

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.

Example : Genetic research on GSD-1a

2000-2007 : «  a very promising idea, without funding »Today: world leading genetic project, in translational phase

Key ingredients for obtaining budgets for research

How can an association help?

edia publications otivation of Researchers

editation for cooperation

indset of the community

onetary backing

issing track record

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

Too often perceived as a cultural brain activity, but:Key in the battle for financingKey for scientific mindsettingA 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

INSERM and AFG teaming up in the Grand Raid des Dentelles du Ventoux

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 involvementPresidents have a stronger PR

opportunity than Research Directors…

When investing in research, you are more apt to collect gifts!Use wisely, guided by Scientific CouncilResearch spending of an Association should catalyze funding

First project very difficult!Willingness of a patient

organization helps

First W-W GSD presidents meeting, Milan

2009

Organising WW congress helps on all fronts!

team 1: INSERM U855/Université Lyon "Nutrition et cerveau". Dr. Fabienne Rajasteam 2: INSERM U1064/ Université de Nantes. Dr. Tuan Huy Nguyenteam 3: University Medical Center Groningen,  Pr. G.P.A. Smitteam 4: INSERM U674,"Génomique Fonctionnelle des tumeurs solides",  Paris. Pr. Jessica Zuckman-Rossi

Team 2 :Gene therapy

Team 4:Metabolic perturbations

in the liver End-stage pathology

of the kidneys

Team 3Liver tumours

GSD1a patients

Liver G6pc -/-

Intestinal G6pc -/-

ped

itri

cian

s

Renal G6pc -/-

Team 1 : Genetic testingAnd project coordination

Conclusion : A proactive association has unique ways to help transform the “good idea”

into a world-recognized research project

Designing Strategies for Neglected Disease Research Lecture 1A Amy Kapczynski UC Berkeley Law From MSF Campaign for Access to Essential Medicines, AccessNews.

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