- Why are you so dedicated to the ME/CFS population and what sparked your interest in this disease in the first place?
This is a disease which is unique in a negative way, it is so frequent and severe, and we have so little knowledge yet – and no satisfactory treatment for our patients.
- How does this study use genetics to build on evidence from your previous research that found signatures of autoimmunity, specifically elevated autoantibodies against adrenergic and cholinergic receptors?
There is evidence of an autoimmune pathomechanism in a subset of patients with CFS. We observed elevated autoantibodies against adrenergic and muscarinic acetylcholine receptors in a subset of CFS/ME patients, but we know little about their role yet. Genome-wide association studies have revealed variants of various genes with either gain- or loss-of-function that are associated with the risk to develop autoimmune diseases. These variants in enzymes or transcription factors play a role in B cell activation, T cell proliferation, TNF-α expression, and IFN type I and IL-12R mediated IFN-γ response which are crucial in autoimmune diseases. In this project, we therefore want to analyze if these variants are more frequent in CFS/ME.
- If your research data supports a finding of genetic autoimmune traits in patients or a subset of patients in your study, will that point the way to improved diagnosis?
Such variants are present in many healthy people, too, and are only one of several risk factors to develop autoimmune disease. If we find such variants to be more frequent in CFS/ME, this would be further evidence for an autoimmune pathomechanism.
- How do you evaluate the ME/CFS field right now and the progress (or lack thereof) you see?
There has been increasing awareness both from physicians and officials during the last few years. In Europe we received funding for an European Network for ME/CFS called EUROMENE. But still the situation is very disappointing with so little support for patients and research and almost no interest from pharmaceutical companies to perform clinical studies. I am a trained oncologist and hematologist and there the situation is so different with so much research and drug development.
- How has your work with EUROMENE (push for harmonized data collection, addressing the heterogeneity of the disease in study design, etc.) informed your own research?
The strength of EUROMENE is that we have a platform to collaborate, which is essential for progress. Furthermore, the COST network is well acknowledged and thus we get more recognition and awareness. As we are a small community of CFS/ME researchers and clinicians – so far – it is very important that we know and support each other.
- Has the Ramsay funding been a helpful investment in your work?
It is difficult to get funding for CFS/ME research in Germany as there are no specific calls [for research proposals] and the disease is not well known. Therefore, the Ramsay funding is very important for us.
Read the study’s abstract here: https://solvecfs.org/autoimmune-signature-in-cfsme/