The Essen MR Centre

Coordinator:		PD Dr. Dagmar Wieczorek
Institution:		Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen
Homepage:		http://www.hg.uni-due.de

The subproject SP8 – The Essen MR centre – is one of eleven subprojects of the research consortium “German Mental Retardation Network (MRNET)” and focuses on recruitment of patients with mental retardation and/or developmental delay. The patients undergo detailed clinical evaluation within the genetic consultation of the Institute of Human Genetics, University of Duisburg-Essen.
The main goal in the triennial funding period is the collection of standardized clinical data as well as blood samples (DNA and cultured lymphocytes) of 370 patients and their parents. The collective should include 20 consanguineous families with at least two affected children. Since the initiation of the research project over 130 patients were included retrospectively and prospectively.
The main focus of the Essen MR centre is on the full description of phenotypic and genetic data of the patients according to standards defined by the consortium to develop detailed genotype-phenotype-correlations and delineate clinical phenotypes of previously undescribed syndromes such as microdeletion syndromes or monogenic disorders associated with mental retardation.


Additional relevant Internet link:
German Mental Retardation Network