ANZgene

The major goals of Multiple Sclerosis (MS) genetic research are to identify the genes that influence disease susceptibility and the progression of symptoms. Knowing what these genes are and what they do will help researchers to understand the causes of MS and its progression. Armed with this knowledge we will be in better position to predict a person’s prognosis and design new and more effective treatments.

The Australian MS genetics research effort focuses on identifying the genes that influence the progression of MS and lead to relapses. The project is broken into three components:

• Phase 1 - was the development of the MS Gene Bank. This has been successful in pooling Australia's MS samples to increase the reliability of results from MS genetics studies.

• Phase 2 - saw the first samples undergo gene-mapping and analysis at the University of Queensland in early 2008. The MS Gene Bank continues to accept samples from People with MS.

• Phase 3 - measures the amount of gene product in blood from samples from People with Primary Progressive MS, Relapsing Remitting MS, Secondary Progressive MS and People without MS. 

The MS genetics team is a national, collaborative effort between a multi-disciplinary team of neurologists, geneticists, bioinformaticians and molecular biologists. MSRA has a secretariat function.

Aussie and Kiwi researchers make double MS genetic discovery

Australian and New Zealand researchers have accelerated research into Multiple Sclerosis by discovering two new locations of genes which will help to unravel the causes of MS and other autoimmune disease. Their findings will be published today in the prestigious journal Nature Genetics.

“For decades the cause of MS has remained a mystery. This discovery reveals important new insights into the genetic susceptibility to the disease”, says Professor Trevor Kilpatrick, Director for Neurosciences at the University of Melbourne, who with Dr Justin Rubio of Florey Neurosciences Institutes coordinated the international study.

“The newly discovered gene locations on chromosomes 12 and 20, offer very promising targets which indicate susceptibility to MS,” says Professor Kilpatrick.

“They also reveal a link between genetic susceptibility to MS and other autoimmune diseases including Type 1 Diabetes, Rheumatoid Arthritis and Graves’ Disease and the potential involvement of Vitamin D metabolism in the risk of developing these diseases”.

“These results are like the key in the door – leading us to where to look for MS susceptibility”, explains Professor Kilpatrick.

The research was conducted by members of the ANZgene consortium, more than 40 investigators from 11 institutions in Australia and New Zealand.

The three year study utilised the MS Research Australia (MSRA) Gene Bank and involved scanning the DNA of 1,618 people with MS and 3,413 people without MS (controls).

Using a genome-wide association scan (GWAS), researchers scanned the entire human genome in broad brushstrokes; looking at genetic landmarks in the genome and then progressively narrowing down their search to individual genes.

Dr Justin Rubio, who coordinated the GWAS, says these genetic discoveries are a major advance for the field.

“We expect that within one to two years we will be able to fine-map these new regions and identify the genetic changes that underpin these findings”, says Dr Rubio.

“Our next steps include studying how changes in these target genes might influence the development of MS. This work could provide insight into the development of novel therapeutics,” says Dr Rubio.

MS affects some 2.5 million people worldwide and almost 20,000 in Australia. It is a devastating autoimmune disease as it occurs at the prime of life and mostly in young women.

“This Australasian team is competing on a global scale to unravel the complex genetics of MS. This is a significant discovery”, says Professor Jim Wiley, Chairman of the ANZgene consortium.

Mr Jeremy Wright, Executive Director of MS Research Australia, says: “We are thrilled to have been involved with this study. It has been a $1.5 million project so far and we are grateful for contributions from the John T Reid Charitable Trusts, the Trish MS Research Foundation, individual donors and an Australian Research Council linkage grant, for making this possible.

This research is central to our mission of accelerating MS research in Australia. We look forward to the next steps, when we can identify susceptibility in individuals and potentially prevent the onset of the disease”, Wright added.

If you have MS, consider becoming involved with the MS Gene Bank.

Please call your local clinical contact for more information