Breakthrough research holds
clues about MS cause
In one of the largest human genetic studies ever
undertaken, scientists have identified the major common genetic variants that
contribute to the cause of the devastating neurologic disease, multiple
The results of the study were published on 11th August 2011 in the prestigious
scientific journal, Nature. They represent years of work by the International
Multiple Sclerosis Genetics Consortium (IMSGC) involving more than 250
researchers in 15 countries. Australian scientists have played a significant
role and more than 1000 Australians with MS contributed DNA samples.
The study confirmed the presence of up to 57 MS genes with a remarkable
pattern that shows that the reason some people get MS and others don’t is
largely due to subtle, inherited differences in immune function. It points to a
pivotal role for T cells – the ‘orchestra leaders’ of the immune system and
makes it clear that MS is primarily an immunologic disease.
The Australian and New Zealand contribution was led by Prof Graeme
Stewart, a Clinical Immunologist in the Westmead Millennium Institute,
University of Sydney. It involved a consortium of 18 researchers from 5 states
and New Zealand (in a group called ANZgene). Prof Stewart is one of five
governance members of the IMSGC (with colleagues from Cambridge, Harvard, Yale
and UCSF) and a member of the 11 person Project Direction Committee for the
“Discovering so many new leads is an enormous step towards understanding
the cause of MS,” Professor Stewart said. “Most importantly, for people with
MS, these genes also strengthen the case for immunologic treatments currently
in clinical trials and point to new therapeutic approaches.” A/Prof David
Booth, the Australian representative on IMSGC Strategy Group, added “It is
amazing that we have over 50 MS genes when as recently as 2006, we had only
one. Such is the enormous power of the new research tools coupled to a massive
international collaborative effort”.
Previous Australian research has suggested a link between Vitamin D
deficiency and an increased risk of multiple sclerosis and the ANZgene
consortium identified a vitamin D gene on chromosome 12. The international
study has now identified a second vitamin D gene and provides insight into a
link between genetic and environmental risk factors.
Multiple Sclerosis Research Australia (MSRA), together with the
Australian government, has funded MS genetic research over the past ten years. The Trish Foundation is proud and honoured to
have contributed to the ANZgene consortium and to these exciting discoveries.
MSRA’s Executive Director Jeremy Wright welcomed the breakthrough
announcement. “This is a terrific milestone which brings welcome new hope to
people with MS and great credit to the researchers. The Westmead Millennium
Institute and ANZgene groups played a significant role in this international
effort and have put Australia in the front line of potential new findings in
both the diagnosis and treatment of MS,” Mr Wright said.
The genetic testing and statistical analyses for the Nature paper were
funded by the Wellcome Trust in the UK and the study was led from Cambridge and