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  The challenges of studying genes
MS in focus Issue 8 - 2006

Jorge R Oksenberg, PhD and Stephen L Hauser, MD, Department of Neurology, University of California, San Francisco, USA

Understanding the genetic roots of MS has the potential to uncover the basic mechanisms of the disease, and this knowledge will undoubtedly lead to new and more effective ways to treat, and perhaps prevent, the disease.

Research studies strongly suggest that genes not only influence who is at risk for MS, but also affect factors such as age of symptom onset, severity, progression and response to drugs. We foresee important implications for this type of investigation. For example, in the future genetic profiling may help the neurologist to match individuals with tailored therapies and disease management strategies.

The genetic aspect of MS was recognised prior to the end of the nineteenth century, but progress in understanding the role of genes in this disease has been slow and appears to be beyond the grasp of any single research team. Given the complexity of the biological mechanisms leading to MS, tackling this problem in a meaningful and decisive manner requires the development of close partnerships among research groups to achieve a critical mass of multi-disciplinary expertise in different fields including neuropathology, genetics, statistics, mathematics, genealogy, epidemiology, and molecular biology.

Although figuring out which genes are involved and what they do is an enormous task, recent methodological advances and an improved understanding of both MS pathology and the underlying structure of the human genome are likely to lead to answers in the very near future.

Translating genetic information from the laboratory to the clinical setting may also present challenges. For example, if the gene discovered to be involved in the disease process happens to have multiple and different important functions in the organism, it may be difficult to manipulate or target it because we may be doing more harm than good. But if the gene is less essential for normal physiological function, then we could screen for chemicals or natural molecules that interact with and block or neutralise it. We could also develop therapeutic antibodies, for example, that would neutralise the offending product.

The short-, medium- and long-term objective of all genetic research is to reduce the impact of MS and to apply the fundamental knowledge we acquire to improve our capacity to prevent, diagnose, treat, and cure MS.

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