Discovery provides additional key insights into the biology of Multiple Sclerosis

Sep 30 2013

A Griffith University medical scientist is part of an international team which has made a key discovery in the effort to find the cause and cure of Multiple Sclerosis (MS).

Professor Simon Broadley is the head of Griffith’s School of Medicine on the Gold Coast and working under the umbrella of the International Multiple Sclerosis Genetics Consortium (IMSGC), has identified 48 previously unknown genetic variants that influence the risk of developing MS.

The discovery nearly doubles the number of known genetic risk factors and thereby provides additional key insights into the biology of this debilitating neurological condition.

“Getting to the source of this terrible condition is a key focus for medical scientists around the world. This new information is a significant step forward in unlocking the genetic code of the disease,” Professor Broadley said.

The genes implicated by the newly identified associations underline the central role played by the immune system in the development of MS and show substantial overlap with genes known to be involved in other autoimmune diseases such as inflammatory bowel disease, Crohn’s disease and Coeliac disease.

“It shows why this search for a cure of MS is so important. It will take us to new areas of understanding of the human body and its functions and new areas of therapy. This will assist many more conditions than just MS,” he said.

The study published today in the medical journal, Nature Genetics, is the largest investigation of MS genetics to date.

The international team consist of 193 investigators from 84 research groups in 13 countries, led by the University of Miami, Miller School of Medicine.

The Australia and New Zealand branch is led by Associate Professor David Booth, MS Research Australia Senior Research Fellow from the Westmead Millennium Institute, University of Sydney with fellow scientists from the ANZgene Consortium (Australia and New Zealand MS Genetics Consortium).

DNA from blood samples from 80,000 people both with and without MS were examined, 1800 of which came from Australia and New Zealand.

“This discovery really demonstrates the power of global scientific collaboration in finding answers to some of our most pressing problems. MS is the most common neurological condition in young people,” Professor Broadley said.

Dr. Jacob McCauley from the University of Miami (who led the study on behalf of the IMSGC), commented further on the significance of the work and nature of the collaboration.

“By further refining the genetic landscape of multiple sclerosis and identifying novel genetic associations, we are closer to being able to identify the cellular and molecular processes responsible for MS and therefore the specific biological targets for future drug treatment strategies,” said Dr. McCauley.

Dr. Matthew Miles, MS Research Australia’s CEO said, “MS Research Australia is proud to have provided foundation funding and continued support to the ANZgene Consortium. This work is a huge contribution to our understanding of MS and will underpin intensified efforts to translate these genetic findings into new therapies to reduce the impact of this condition for people with MS world-wide.”

There is currently no cure for MS.