Patent Application for CFS Diagnostic Test
In mid-August, Dr. John Gow and Dr. Abhijit Chaudhuri of the University of Glasgow submitted an application to the European Patent Office describing a diagnostic tool for CFS. The “invention” (as it's termed in the application) covers “materials and methods for diagnosis and treatment of CFS,” based on genetic biomarkers observed by Gow and Chaudhuri during their extensive genetic research into the illness.
In the application, Gow and Chaudhuri identify a number of genes that are expressed at abnormal levels in CFS patients compared to healthy individuals. In contrast to earlier studies from various sources, the researchers claim to have been able to use the expression patterns of these genes to establish functional models of CFS pathology, explaining some of the symptoms observed in affected individuals. If accurate, this could provide a rational basis not only for diagnosing CFS but also for classifying CFS patients according to the biochemical basis for their symptoms, thereby enabling appropriately targeted therapies.
The researchers carefully point out that, taken alone, the profile generated by this test may not provide an absolute diagnosis of CFS. They suggest that a clinician should also take into account the patient’s physical or psychological symptoms in order to reach a diagnosis. But they state that the gene expression profile this test generates could provide useful data to help confirm or reject a preliminary diagnosis based on physical and psychological symptoms alone. In other words, a test result indicating that one or more of the identified genes is upregulated—meaning that the gene in question shows at least a two-fold increase in expression as compared to unaffected individuals—would provide support for a diagnosis of CFS. Similarly, a normal gene profile could potentially rule out the illness.
According to the patent application, Gow and Chaudhuri believe that CFS is not a genetic disease caused by gene defects but an acquired condition where there’s a shift in the functionality of a select number of genes regulating specific biological activities—specifically those involved in infection and immunity, cell membrane function and cell cycle. Based on the expression patterns they’ve observed, they’ve established a model of affected "hub" and "network" genes, with the hub genes acting as control centers and the network genes acting largely as the implementers. This set of hub and network genes defines the functional shift in the biological systems of patients who continue to have symptoms due to CFS.
Gow and Chaudhuri go on to relate the affected genes to specific sets of CFS symptoms, like recurrent infections and tender lymph nodes, restricted mobility and atopic/allergic reactions, providing clues for targeted treatment options.
The time taken to obtain a patent varies substantially from country to country, but European patent applications typically take four years or more to be granted. In the meantime, Gow and Chaudhuri can continue research on the subject, potentially leading to further refinement. Others from around the world are also deeply involved in genetic CFS research. As advances emerge—and as more news surfaces on this patent and the process it describes—the CFIDS Association will keep you posted.