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The centrosome and autosomal recessive primary microcephaly

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced head circumference of more than 3 SDs below the age- and sex-related mean impaired with mild to moderate mental retardation. The reduced head circumference is due to a small but architecturally normal cerebral cortex. The incidence of this disorder is highest in Pakistan. MCPH is characterized by a pronounced heterogeneity with seven loci, designated MCPH1-7, which have already been identified. The underlying genetic defects were found in the following genes, MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, and STIL/SIL. These MCPH genes have been implicated in cell division and cell cycle regulation and have centrosomal localization. The proposed pathomechanism of this disorder is the imbalance of symmetric versus asymmetric cell division in neural progenitor cells of the developing neuroepithelium resulting in an altered cortical development.

Although several MCPH genes have already been identified, there are still a large number of families which do not carry mutations in anyone of the known genes. Identifying the unknown genetic lesions in these families will on the one hand pave the way to a comprehensive diagnostic management of this highly heterogeneous disease including prenatal diagnosis and preconceptional carrier screening, on the other hand it will help to further elucidate the molecular mechanisms causing the characteristically disturbed brain development, i. e. to describe new signaling pathways and define essential interactions of various gene products in prenatal brain development especially in the cerebral cortex.

The aim of the project is to identify novel genes in a pool of MCPH families collected from remote regions of Pakistan and to elucidate their role in the etiology of this disease by using State-of-the-Art techniques at a genetic and biochemical level.

Prof. Dr. Angelika Anna Noegel
Tel: 0221/478-6980
Dr. Muhammad Sajid Hussain
Tel: 0221/478-86853
Für weitere Informationen besuchen Sie unsere Internetseiten:
http://www.uni-koeln.de/med-fak/biochemie/biomed1/

Prof. Dr. Angelika Anna Noegel
E-mail: Noegel@uni-koeln.de
Dr. Muhammad Sajid Hussain
E-mail: mhussain@uni-koeln.de
Institute für Biochemie I, Medizinische Fakultät der Universität zu Köln
Joseph-Stelzmann-Strasse 52
D-50931 Köln

ab sofort