Development of an interferon signature on the NanoString® nCounter® platform to monitor type I interferonopathies
Type I interferonopathies are characterized by an increase of circulating type I interferon (IFN) concentration. These diseases refer to rare Mendelian genetic disorders such as Aicardi-Goutières Syndrome (AGS) as well as more frequent and polygenic auto-immune diseases like systemic lupus erythematosus (SLE). Yet, detection of type I IFN in these patients remains challenging as its amount is usually very low in patients’ sera. Thus, the detection of interferon-stimulating genes (ISG), a set of transcripts systemically induced by IFNs, has been proposed as an alternative for the detection of this cytokine family.
In this webinar, we will summarize the different steps involved in validating this assay for the monitoring of type I interferonopathies. We will explain our choice of the selected ISGs, discuss a comparison with the reference method (RT-qPCR) and present the analytical performance of the assay. Data on reproducibility and the required preanalytical conditions will also be shown.
The use of this simple test might represent a gold standard for the evaluation of various autoimmune diseases. Moreover, this test could also be used to monitor patients treated with drugs targeting the type I IFN pathway. When comparing NanoString technology and RT-qPCR in terms of analytical performance, both provided similar results in terms of analytical performance; however, nCounter was quicker, easier to multiplex, and almost fully-automated.
FOR RESEARCH USE ONLY. Not for use in diagnostic procedures.