The goal of genetic research into MS is to identify the genes that influence disease susceptibility and the progression of disease. Identifying the genes which underlie MS will provide a better understanding of the cause of MS and its progression. Genetic information may also be used in future to predict a person’s prognosis and response to treatment, and design better therapies.

The Australian research community has been very active over the years in the field of genetic research into MS. Early in 2007, the MS Gene Bank was formed which collected genetic samples from the Australian MS population and pooled the samples to increase researchers’ ability to make discoveries. Samples from New Zealand were added in 2008 and the Australia and New Zealand MS Genetics Consortium (ANZgene) platform was formed.

The ANZgene Consortium is a collaborative effort between a multi-disciplinary team of neurologists, geneticists, bioinformaticians and molecular biologists. MS Research Australia plays a secretariat role in coordinating the platform. The platform comprises eight geographical nodes with stewardship of over 3500 DNA samples for use in MS research.

ANZgene members work together on research projects utilising samples from the collection as well as working with the International Multiple Sclerosis Genetics Consortium (IMSGC) on large scale genetic projects with worldwide involvement. Samples and data from the ANZgene Consortium are also available for use by other researchers in external MS genetics projects upon application.

The ANZgene Consortium has made a number of significant findings and publications, some of which are listed below. Please use links below for further details on the individual projects.

  • In 2009, ANZgene researchers completed one of the early whole genome screening projects which identified two new genetic sites that increase the risk of developing MS.

  • In 2010, two microRNAs (regulators of genes) were found to be present in lower levels in samples from people with MS.

  • In 2011, the IMSGC (including ANZgene samples) identified 57 new susceptibility genes that contribute to the risk of developing MS published in the prestigious scientific journal Nature.

  • In 2012, a study to specifically investigate the Alzheimer’s disease risk gene apolipoprotein E (ApoE) in samples from people with MS and found it does not contribute to disease risk in MS.

  • In 2013, ANZgene contributed samples towards another landmark international genetics paper which identified a further 48 genes involved in the risk of developing MS published in the journal Nature Genetics.

  • In 2013,  ANZgene published a follow-up study of the original 2009 study further refining the two sites identified relating to MS risk.

  • In 2015, ANZgene researchers completed a study investigating the functional changes in immune cells caused by genetic variations in the gene encoding CD40, a molecule that has been implicated in MS and other disorders.

  • In 2015, ANZgene researchers identified rare variations in the P2X7 gene were associated with the risk of developing MS.

Many other research projects have been made possible by ANZgene collaboration and samples. New findings are updated on the MS Research Australia website as they are published.

MS Research Australia and the ANZgene collaborators would like to thank the many people with MS who have contributed DNA samples to make this research possible.

MS Research Australia is grateful for funding contributions from the John T Reid Charitable Trusts, the Trish MS Research Foundation, individual donors and an Australian Research Council Linkage Grant.

If you have MS and would like to become involved with genetic research via ANZgene, please call your local clinical contact for more information.

Location Clinical Contact Phone Number
Sydney Therese Burke, Westmead Hospital 02 9845 7997
Newcastle Susan Agland, John Hunter Hospital 02 4985 5880
Tasmania Carol Hurst, Menzies Institute for Medical Research 07 5678 0750
Queensland Susan Freeman, Griffith University 03 6226 7781