Identifying causal biological mechanisms in ME/CFS by a functional genetic approach

Getting ME/CFS is possibly 48-56% determined by a person's genetic (DNA) background. This has not been researched extensively until now, even though it is known that genetic research can be used to determine the cause of ME/CFS. The aim of this project is to investigate which genetic (DNA) variations are involved in ME/CFS in order to discover the genes and biological cause(s) of ME/CFS. 

This genetic study (Genome-Wide Association Study, GWAS) aims to identify variations in DNA that occur more frequently or only in people with ME/CFS. To do this, a large, global collaboration with existing (population) studies with data from ME/CFS patients will be established. By combining the DNA variations with existing layers of biological data (multi-omics) from the ME/CFS Lines consortium, genes and biological mechanisms behind ME/CFS can be identified. It will then be investigated whether there are already existing drugs that act on these genes and biological mechanisms. These drugs could then potentially be used as treatments for ME/CFS.

Afbeelding

The research is done in collaboration with ME/CFS Lines. This is a multidisciplinary consortium with biobank to find the cause of ME/CFS. Within this research project, the Erasmus Medical Center (Internal Medicine), TU Delft (Pattern Recognition & Bioinformatics), and UMCG (Internal Medicine/Endocrinology) are collaborating. Pluut&Partners is a consulting agency that will help us reach patients and disseminate the results and knowledge gained from our research. Patient representatives from ME/CVS Nederland were closely involved in drafting the research proposal. They will remain involved throughout the project: exchange views on research questions, interim findings, progress and the final interpretation and utilization of the research results. The patient representatives involved will be paid for their efforts.

Through the global collaboration being established, we aim to identify robust and validated DNA variations linked to ME/CFS. We expect that these DNA variations and the multi-omics data will lead to the identification of genes and biological processes that cause ME/CFS. We will then use the results to identify existing drugs that could potentially be used as treatment options for ME/CFS. 

Extensive collaborations and Open Science are essential in research and especially in genetics and DNA research. Therefore, all outcomes will be published in an accessible manner. After publication in open access scientific journals, the data will enter a freely accessible existing results database (GWAScatalogue). This research follows FAIR principles and ethical standards regarding privacy and well-being of patients and participants.