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Characterization of the genetic basis of Atopic Dermatitis


Atopic Dermatitis (AD, also known as eczema) is a chronic inflammatory skin disease affecting 10-20% of children in western societies. AD is a complex disease arising from the interaction between genetic and environmental factors.

Various genome-wide linkage scans have been undertaken to search for AD susceptibility genes with potential sites identified at various chromosomal locations. However, very little is known about AD causatives genes.

The aim of this project will be the identification of the genetic determinants of AD through genome-wide association. The Affymetrix GeneChip® Mapping 500K Set will be used for the analysis of more than 500.000 Single Nucleotide Polymorphisms (SNPs) on each individual.

The sample will consist of 250 nuclear families (10 00 individuals) selected on the basis of siblings with early onset AD and high/moderate disease severity. Statistical analyses of the acquired data will allow the determination of the SNPs associated to AD and will permit the characterisation of novel AD susceptibility genes.

Additionally, the Affymetrix Human Genome U133 Set GeneChip array will be used to perform a gene expression analysis in T lymphocytes in a subset of 50 AD families. Gene expression profiling will enable the study of correlations between mRNA levels and disease status and severity.

Since the SNPs genotypes will be available, linkage and association analysis will be performed in order to identify the genes regulating the mRNA expression levels and their potential relation with AD.

The present project will enable the applicant to acquire expertise in state of the art tools for complex disease mapping, including high throughput genotyping and statistical genetics. Moreover, this will be achieved in a multidisciplinary setting where biotechnology and functional genomics meet clinical research.

The fellowship will help the applicant to pursue his goal to become an independent and leading scientist in complex disease gene mapping.

Call for proposal

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