Autoinflammatory Diseases: Epigenetics & Immunomics (INSAID)

Systemic autoinflammatory diseases (SAID) are a group of molecular disorders characterized by seemingly unprovoked inflammation. Currently, it is possible to give a definitive diagnosis by using molecular analysis techniques for some patients, but for others the analysis outcome can be inconclusive or even misleading. In daily clinical practice, it is still very common that patients show clear symptoms of autoinflammatory disease but cannot be characterized using molecular techniques (undefined SAID). It is therefore of great importance to improve the diagnosis of SAID to avoid wrong and apply correct treatment options. First, the presented project will establish an agreement among experts detailing how to interpret the outcome of genetic tests in accordance with clinical data. This will allow, in combination with proposed enhanced genetic tests, to improve the diagnosis of SAID patients. Furthermore, the effect of external or environmental factors (epigenetics) on the organism of defined SAID will be studied using Familial Mediterranean Fever (FMF) as an example. Finally, a new platform containing different kinds of heterogeneous data will be established to identify the causing mechanisms of undefined SAIDs. The pursuit of these goals in combination with existing well characterized patient samples makes a highly promising approach to improve molecular diagnosis and to shed light on undiagnosed SAID cases. This project is part of the international collaborative project INSAID. The AIT Molecular Diagnostics group will be an essential partner of the INSAID project by providing highly paralleled epigenetic, immunomics, and inflammatory analysis technologies and bioinformatics key expertise for analyses of patients serum and DNA. The findings of these experiments will be used to characterize undefined SAID on molecular levels for enabling and improving patient-therapy.

No additional funding sources recorded.