Summary

The scientific goals of  A.F.R.G.

Following our first symposium in 1996, these axes of research were privileged:

The setting up of interdisciplinary centers for certain orphan diseases, providing an integrated care of patients and a better coordination of treatment and research, following the example of the Neurofibromatosis network at the CHU Henri Mondor of Creteil.

The coordination of research efforts and exchange of scientific information, at the European level.

The support of young researchers through fellowships, to encourage scientific careers devoted to orphan diseases.

The initiation of public health research to comprehend the importance of orphan genetic diseases at the epidemiological level and their familial and psychosocial impacts.

At the fondamental level, the deepening of investigations of the genotype-phenotype interactions and the new molecular approaches for pharmacological therapeutics.

We are also concerned about the evaluation of scientific studies. Standardization conferences are useful and would be supported.

At the conclusion of the symposium, all the participants have underlined the need to say the truth to the population and the patients.

Although scientific research is full of hope, results are not guaranteed quickly. It is therefore absolutely necessary to keep in mind a long-term approach. This is why we are firmly pursuing our objective to create a Foundation for Genetic Research.

Scientific Council

Dr. Gilles THOMAS, scientific director, CEPH -Fondation Jean Dausset , co-discoveror of the NF 2 gene.

Dr. Josue FEINGOLD, Director, I.N.S.E.R.M. Research Unit 155, Genetic Epidemiology.