Chronic fatigue syndrome (CFS) is an illness characterised by disabling fatigue of at least 6 months duration which is accompanied by various rheumatological, infectious and neuropsychiatric symptoms. A collaborative study group has been formed in order to address the current areas for development in CFS research, namely, to develop an understanding of the molecular pathogenesis of CFS, to develop a diagnostic test, and to develop specific and curative treatments.

Various groups have studied the gene expression in peripheral blood of CFS patients and of those studies which have been confirmed using polymerase chain reaction (PCR), it is clear that the most predominant functional theme is that of immunity and defense. However, we do not yet know the precise gene signature and metabolic pathways involved. Currently, this is being addressed using a microarray representing 47,000 human genes and variants, massive parallel signature sequencing (MPSS) and real-time PCR.

It will be important to ensure that once a gene signature has been identified, that it is specific to CFS and does not occur in other diseases and infections. A diagnostic test is being developed using Surface-Enhanced, Laser-Desorption and Ionisation - Time of Flight (SELDI-TOF) mass spectrometry following a pilot study in which putative biomarkers were identified.

And, finally, clinical trials are being planned; novel treatments which we believe are important to trial in CFS patients are interferon-a and one of the anti-tumour necrosis factor-a drugs.

Key Words: Chronic Fatigue Syndrome, Myalgic encephalomyelitis, biomarkers, gene expression, treatment

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