Translational approaches aiming at the identification of drug targets and
biomarkers for autoinflammatory syndromes increasingly build upon
genomic technologies such as microarrays and next generation
sequencing approaches. Exome sequencing has the potential for a direct
translation to clinical utility, particularly in rare diseases with a mono- or
oligogenic architecture and highly penetrant coding mutations. However,
even by sequencing only the exomes of individuals, a large quantity of
data and sequence information is generated, which requires a significant
amount of data analysis and expertise. The subproject Bioinformatics and
NGS Core will conduct data acquisition and bioinformatical analyses of
genetic and genomic data for both, basic research and clinical core
subprojects of AID-NET. In particular, we expect to continue the successful
identification of genes and mutations underlying autoinflammatory
diseases through whole exome sequencing. In addition, the project aims at
the molecular characterization of novel pathways of the inflammasome
through the combination of genetic and transcriptome data in a systemsbiology
driven approach. The genes and pathways identified through
exome sequencing and transcriptome profiling will directly translate to
clinical utility, as the results will likely aid to refine autoinflammatory disease entities, and further implicate potential drug targets, novel
biomarkers and therapeutic options for an individualized medicine.