A Remarkable Day in the
History of MS Research
The Australian MS Genetics Consortium, known as AusGene was well underway, with the successful ARC linkage grant approved, when 30 July 2007 became a remarkable day in the history of research into Multiple Sclerosis and in particular for Australia’s part in unravelling the complex genetic factors in this crippling disorder. The first MS gene (HLA) was found back in the 1970s. Definitive evidence of the second MS gene took until now.
Few scientific discoveries appear simultaneously in prestigious scientific and medical journals, as occurred in The New England Journal of Medicine (NEJM) and Nature Genetics. Each publication points to a genetic association with a protein essential to all immune function, interleukin-7 receptor (IL7-R). The definitive nature of the researchers’ findings points to a critical role for IL-7R in MS and provides great impetus for further studies on this association. In NEJM, the paper was afforded the rare distinction of being accompanied by an editorial. Nature Genetics published two papers simultaneously on IL-7R, one from the USA/UK and one from Scandinavia.
Combined, these three papers involved testing the DNA of over 20,000 people in experiments made possible by international collaborations, the mapping of the human genome, remarkable advances in ‘rapid throughput’ genetic testing and multimillion dollar funding by governments and other agencies.
Australian science takes pride in this milestone discovery. The world was first alerted to the role of IL-7R in MS in 2003 by a team led by Professor Graeme Stewart and Dr David Booth in the Westmead Millennium Institute, Westmead Hospital.
Professor Stewart was the recipient of a grant in the Trish Foundation’s inaugural round of funding in 2002.
“It took the size (and funding) of the overseas experiments however, and confirmation by results in multiple countries, to make this finding internationally accepted,” said Professor Stewart. “This provides the potential, albeit perhaps still years away, of better treatments for the many people who live with this dreadful disease and who are long overdue for more effective therapy.”
How might IL-7R be contributing to the cause of MS? It is an essential molecule for the functioning of the immune system’s protagonists, the T-lymphocytes. T-cells have long been identified as an important player in MS; the genetic finding will quicken the pace of searching for the exact role played by IL-7R and through this, direct new approaches to the development of effective treatments.
If the Australian and International research is successful, the real winners will be people living with MS.