February 16, 2023

Resolving Diagnostic Deadlocks in Systemic Inflammatory Autoimmune Diseases (SAID)

5th Call, iDoc

Short Summary

Systemic autoinflammatory diseases (SAIDs) are rare, highly dynamic, and heterogeneous conditions of short, violent episodes of immune over-activation. This project aims to develop a novel analytic approach to overcome the diagnostic challenges in SAIDs. By doing so, we aim to not only accelerate the diagnosis but also to allow for personalized patient interventions.

Goals

This project aims to develop a novel approach to accelerate the diagnosis, to shed light into the underlying pathways and to personalize patient interventions.

Significance

An accelerated, timely, and correct diagnosis is crucial to avoid unnecessary invasive investigations and inadequate treatment decisions in SAID patients, benefiting clinicians, patients, and society.

Background

SAIDs are characterized by long dormant periods with no or only minor clinical symptoms, interrupted by short flashes of inflammation. These flashes can lead to lasting tissue damage and loss of function. However, despite considerable scientific advances, the diagnosis of around 70% of SAIDs remains exceptionally challenging because of the absence of objective diagnostic criteria. Therefore, the diagnosis is usually only established with significant delay.