Gavin Giovannoni

Department of Neurology, The Royal London Hospital, Whitechapel, London, UK

The extreme variability that characterizes the natural history and clinical manifestations of MS has lead to extensive research efforts aimed at identifying reliable disease biomarkers in the blood and cerebrospinal fluid. Establishing robust biomarkers could enhance MS diagnostics and provide a source of useful information to predict and monitor disease development and progression, response to treatment, and a patient’s possible predisposition for adverse events. Ideal biomarkers should be disease-specific, sensitive and allow rapid and accurate detection and quantification of pathological features It is known that genetic polymorphisms, such as major histocompatibility complex class II and III gene variants, are associated with MS susceptibility and disease course, although data are inconsistent across populations. Markers of immune activation have been identified, and proteins indicative of demyelination and neuronal damage are under investigation as potential biomarkers of disease progression. Molecules that reflect drug bioavailability are also being studied. In addition, the use of microarray technologies for gene expression analyses and microRNA profiling techniques have recently facilitated the identification of promising biomarker candidates. Despite the undeniable progress made in recent years, further research is necessary for biomarkers to become a comprehensive diagnostic and monitoring tool in MS; in particular, the identification of reliable markers of neurodegeneration and disease progression remains an unmet need. This presentation will provide an overview of the current knowledge of biomarkers in MS, discussing their limitations and outlining the most promising areas of research in the field.