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NEUTRO-NET - Inherited inhibition of inborn immunity – an integrated molecular genetic approach to discover novel human gene defects

  • Sprecher: Prof. Dr. Dr. Christoph Klein
  • Einrichtung: Kinderklinik und Kinderpoliklinik im Dr. von Hauner'schen Kinderspital
  • Förderung: seit 2009 bis 2011

The goal of this project is to identify novel genetic defects in patients with inherited disorders of myeloid cells, to shed light on the pathophysiology, to improve patient care, and ultimately to provide the basis for innovative gene-based therapies. This will be achieved by means of an international interdisciplinary network, including established patient registries, and by expanding the frontiers to countries in which the prevalence of consanguinity facilitates the identification of novel genes involved. Importantly, comprehensive clinical investigations will be critical to define novel nosological entities. Underlying genetic defects will be discovered using SNP-array based homozygosity mapping and candidate gene sequencing. Patient cohorts will be screened to assess the frequency of newly identified genetic mutations and to establish genotype-phenotype correlations. Extensive functional studies will be performed in vitro to validate the role of sequence variants, including functional complementation experiments, biochemical, immunological, and imaging studies. An innovative feature of NEUTRO-NET is the integrative view of genetic data from human patients, zebrafish (Danio rerio), and fruit fly (Drosophila melanogaster). By comparing human genetic data with data obtained in mutagenesis screens for myeloid cell dysfunction in zebrafish and flies, NEUTRO-NET partners will rapidly proceed in identifying novel genetic defects. Furthermore, use of these powerful genetic model organisms will allow us to study epistatic relationships between various defective genes and pathways.

Quelle: ERA-Net for Research Programmes on Rare Diseases