The Florey joins international team in major MS discovery

Melbourne scientists have helped identify a genetic “flag” for multiple sclerosis that can predict disease severity.

The study is described as an important breakthrough that provides new clues about developing medicines for progressive MS.

For the first time scientists have identified a genetic “flag” for the auto-immune disease multiple sclerosis (MS) that can predict disease severity.

A major international study that included scientists from The Florey in Melbourne has reported the genetic variant is associated with faster disease progression and suggests those with the gene are more likely to need walking aids sooner.

The findings, published overnight in the journal Nature, are providing the first real progress in understanding, and eventually fighting, disease severity in MS.

“This is like the missing link in the puzzle,” Justin Rubio said.

Scientists from The Florey in Melbourne have helped make the MS breakthrough.

Associate Professor Rubio is the chair of the Australia and New Zealand MS Genetics Consortium and the Florey’s neurogenetics group head.

He describes the marker as like a flag in the genome next to two genes, one of which plays a role in MS severity.

“We know there are over 200 genes involved in MS susceptibility,” he said. “This is the first time after 20 years of trying, that we have been able to identify genes for MS severity and MS outcome.”

Associate Professor Rubio told the Herald Sun this was an important breakthrough because the genes identified are expressed in cells in the brain.

“We now know MS severity is closely associated with genes that are almost exclusively expressed in the brain,” he said.

“What this means is that future therapies will be focused on drugs that can repair and protect the brain to augment what is already available for treating MS.

“We have 14 TGA-approved immune therapies that try to slow progression of MS, but once you reach a certain stage they don’t work anymore.”

He said the immune therapies tried to stave off and suppress the immune system.

“They only work for so long so we need to have therapies that can repair the damage to the brain.”

The international team of scientists report the finding opens the door to preventing long-term disability for those with MS.

MS is described as the result of the immune system mistakenly attacking the brain and the spinal cord, resulting in symptom flare-ups known as relapses as well as longer-term degeneration known as progression.

The Florey team provided the study with clinical data as well as DNA samples from people in Victoria living with MS.

“We don’t understand why the rate of disability accumulation in people with MS is so variable, leaving some using a wheelchair after 10 years and others running marathons,” Associate Professor Rubio said.

“By identifying these genetic variants, we’re demonstrating that genes expressed in the nervous system are important modifiers of MS outcome, which opens the door for new treatments for MS progression.”

The study involved more than 22,000 people with MS from Australia, North America, and Europe and involved more than 70 institutions.

“The key is not necessarily the large number of cases, it is also the rich clinical information that was pulled together and analysed in combination with a large sample size.

“It is exciting and confirms that severity of disease is dictated by genes in the brain.

“It is an important breakthrough that provides new clues about developing medicines for progressive MS.”