Genetic profiling offers hope for understanding multiple sclerosis risk

Sly Saint

Senior Member (Voting Rights)
In a major step towards early detection, University of South Australia researchers are investigating the biology behind multiple sclerosis (MS) to help predict people's genetic risk of developing the disease, long before any symptoms appear.

Funded by an MS Australia Incubator Grant announced today, the Australian-first study will use a powerful new research method known as 'recall by genotype' to explore genetic causes of MS.

Specifically, the study will explore links between MS and the Epstein-Barr virus – a common virus best known for causing glandular fever, but increasingly believed to be a trigger for MS.
Lead researcher, UniSA's Dr. David Stacey, says the research aims to untangle how the Epstein-Barr virus might lead to MS in some people but not others.

"For many years we've known that the Epstein-Barr virus is a likely precursor for MS," Dr Stacey says.

"But because the virus affects up to 90% of the population, it's difficult to pin down why some people go on to develop MS while others don't.

"We believe the way a person's immune system responds to the Epstein-Barr virus may be a key factor, and genetics can help us uncover that."
 
To enable this study, the researchers will use an innovative research design called 'recall by genotype' – or RbG for short. RbG studies use naturally occurring genetic variants that are strongly associated with a disease to group people for research. Participants are then 'recalled' for further testing based on their DNA, allowing researchers to study differences in a more targeted and reliable way.

I'm not sure I'm completely clear what this particular study is doing. But, there are hints here of studies that we could do as follow-ons to the DecodeME project.

For example, if you find a genetic variation that is more common in people with ME/CFS, then there are interesting questions around

1. why not everyone with ME/CFS has that genetic variation. Could they have something else? Or are there different ways to get to the same genetic vulnerability? Are there combinations of risk variants that result in the same disease outcome? Or combinations of risk variants that result in different phenotypes, different disease subgroups or completely different diseases?

and
2. why people with that genetic variation don't have ME/CFS. Is it just that they haven't been exposed to the relevant combination of triggers yet? (In which case, you might want to look at the genetics of older healthy people with the "ME/CFS risk variation".). Do they have some off-setting genetic protection?
 
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