Ziel
With a prevalence of about 2%, mental retardation (MR) poses an important medical and socio-economic problem. The European MRX Consortium has been instrumental in characterizing families with non-specific X-linked MR (MRX) and cloning most of the MRX genes, with two objectives:
(1) increasing the possibilities for genetic counselling for MR (X) and
(2) elucidation of the neurobiological mechanisms underlying MR, to create a basis for therapeutic intervention. Using neuronal tissue cultures and genetically modified mice we will study the biological mechanisms which link MRX gene defects to deficient cognitive functioning in humans. In addition, cloning of additional MRX genes will be accelerated using highly innovative approaches. These studies will greatly enhance our understanding of the cellular basis of cognition.