Research

Mental retardation (MR) has a prevalence of about 2% in the general population and is the single most important cost factor in health care. Although most cases are caused by genetic defects, to date only few are known. For this reason, the major goal of the German Mental Retardation Network (MRNET) project is the systematic identification of genes involved in MR and the functional investigation of respective proteins. Within MRNET a medical genetic approach is combined with systematic genome analysis. The goals include analysis of a large number of sporadic MR patients and families with autosomal recessive MR for gene identification by positional cloning. Strategies include molecular karyotyping to unravel genomic aberrations and mapping of genetic loci using linkage analysis. The function and cellular pathways of the identified candidate genes will be analyzed using cell biology and animal models. The characterization of the molecular networks involved will eventually allow identification of targets for therapeutic intervention. In parallel, detailed clinical investigations will refine genotype-phenotype correlations and allow delineation of new disease entities. An intensive communication will ensure rapid knowledge transfer and allow translation into clinical medicine for the benefit of affected families. MRNET hopes to make a significant contribution to the understanding of the causes of MR in particular and to neurobiology in general.