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The French Fondation Autisme, a community-based and advocacy French group, has created an autism and pervasive developmental disorders phenotypic and genetic repository.
We want to present this international program that is primarily a resource and not a research project per se.
Objectives:
The FAAV autism phenotypic registry and genetic repository has been established with the
aim of generating an extensive collection of simplex or multiplex families with autism, totally
compatible with A.G.R.E. resource.
The scientific goal of the phenotypic and genetic resources is to identify genes
involved in susceptibility to autism, and to understand the gene relationship to clinical outcome, in order to provide a better clinical intervention for autistic individuals.
This resource is available for the entire scientific community.
Methods:
The phenotypic evaluations are based on DSM-IV diagnosis and ADI-R interview.
These minimal evaluations allow uniform and research-reliable data. Phenotypical data are collected under anonymous status according to the French law and ethical bills to protect individuals.
DNA, cell lines and serum repository are housed by GENETHON which have a huge experience of biological repository for a variety of diseases. Validation : all the protocols and the good practice rules, including the parental agreement forms, have been validated by the French ethical council on 10th October, 2005.
Results:
We have today at the disposal of the entire scientific community pedigrees of 130 families, 550 individual samples of DNA, cell lines and serum available(mother, father, affected child and siblings), we are in the process of finishing collecting DNA, cell lines and serum from 550 engaged families as well as phenotypes.
Conclusions:
Any researcher interested in using the French open biological resource can contact : Fondation Autisme, 25 Boulevard Pasteur, 75015
contact@fondation-autisme.org