News
[March] Buffalo CCSVI Researcher Presents in Sydney
A key researcher, A/Prof Robert Zivadinov, investigating Chronic cerebrospinal venous insufficiency (CCSVI) in Buffalo, was in Australia recently on a professional trip to speak with neurologists. Amongst the topics discussed at a Sydney meeting at which your MSRA representative was present was CCSVI – the theory that venous obstruction and secondary iron deposition in the brain may cause MS.
A/Prof Zivadinov is further investigating results published by Dr Zamboni showing venous obstruction in patients with relapse remitting MS and no non-MS control individuals.
What is still unclear is if the deposition of iron is a cause or consequence of MS. Iron deposition in the brain occurs gradually with age in all of us. Iron levels also increase as a result of inflammation and degeneration. Consequently, it remains unclear as to whether people with MS have (abnormally) higher levels of iron levels than “normal” individuals, and whether it is caused by the MS inflammatory attack caused by the immune system or venous obstruction.
Increase in iron deposition is also observed in people with parkinson’s disease and alzheimer’s disease who do not develop MS. Neurologists also see patients with conditions involving obstructed veins and with spontaneous and traumatic brain bleeding who do not get MS. A/Prof Zivadinov suggests that CCSVI may be one of many factors including environmental, biological and genetic, that together interact to increase the risk of developing MS.
What we do know is that we need to determine if CCSVI is real and if it can cause MS or disease progression. It may be that CCSVI is just a consequence of the MS process.
CCSVI is still unproven and clinical trials are necessary to measure the occurrence of vein abnormalities, demonstrate that these changes are indeed pathogenic. If the latter turns out to be true, it is imperative to determine if the potential treatment is safe and of benefit for people with MS.
A/Prof Zivadinov is undertaking the largest clinical trial to scientifically test the merits of CCSVI in patients with and without MS. In Australia, as yet there is no full-scale clinical trial for CCSVI. MSRA is in discussions with the UK MS Society and National MS Society (USA) on the matter and watching the development of scientifically robust clinical trials and research to investigate CCSVI further.
[March] Multiple Sclerosis Research Supported With $1.4 Million
4 March 2010
The NSW Government and Multiple Sclerosis Research Australia today announced $1.4 million in funding and a new network to help researchers in their battle against Multiple Sclerosis.
Minister for Science and Medical Research, Jodi McKay, and Executive Director of Multiple Sclerosis Research Australia, Jeremy Wright, announced the historic funding and new network.
Ms McKay said the NSW Government is providing around $270,000 to assist in setting up the NSW Multiple Sclerosis (MS) Research and Clinical Trials Network.
“The NSW MS Research and Clinical Trials Network will help bring the State’s researchers together and streamline the clinical trials process,” Ms McKay said. “The funds will support a Multiple Sclerosis Clinical Trials Coordinator, and provide secretariat and grant writing support.
“This new initiative will build stronger links between individual researchers and provide better coordination, expansion and streamlining for important clinical trials. Providing a streamlined clinical trials process will make NSW and Australia a far more attractive and easier place to conduct MS research and clinical trials for MS treatments.”
Mr Wright welcomed the NSW Government funding and said the new network would help support increased collaboration by MS researchers across the State. “This initiative will help the Hunter Medical Research Institute, the Brain & Mind Research Institute, the Westmead Millennium Institute and St Vincent’s Hospital share their knowledge,” Mr Wright said.
“It will also ensure a more concentrated level of MS research in NSW and will coordinate a clear disease-specific strategy for MS research in NSW and across Australia. This approach will help to deliver better treatments, prevention and hopefully one day, a cure.”
Multiple Sclerosis Research Australia (MSRA) is investing $970,000 to continue the promising work of Sydney-based scientists involved in the network.
To read the full media release please click here
[March] Australian Researchers Discover How MS Genes Works to Cause MS
The Australian scientists who in 2007 discovered the MS susceptibility gene IL-7Ra have gone on to uncover how it might be working, opening the door to potentially new approaches to treat MS.
The Westmead Millennium Institute scientists, Dr David Booth and Prof Graeme Stewart, published results today in the Journal of Immunology outlining the likely biological mechanism by which variations in the IL-7Ra gene influence the control of the immune system.
Prof Claude Bernard from Monash University highlights “This is an important and significant piece of MS research, showing that genetic variations in the IL-7 receptor alpha chain, influence the development of immune cells. More over, these findings may soon allow us to differentiate healthy individuals from those with MS as well as other neurological disorders.”
Previous research has shown that genetic variations within the IL-7Ra gene go on to affect MS susceptibility, type 1 diabetes and survival after bone marrow transplantation. But until now, it was unknown how IL-7Ra exerts its influence.
Dr Booth describes the discovery: “The IL-7Ra gene produces a receptor on the surface of immune cells that interact with a molecule called TSLP to regulate the immune system. We have found that the genetic variant of IL-7Ra which increases the risk of MS interacts less with TSLP. This creates a less controlled immune system that may go on to cause MS and disease progression.”
Prof Bill Carroll, MS Research Australia (MSRA) Scientific Chairman highlights, “Over the last five years, MSRA has made a significant investment in genetics research to identify the genes likely to play a role in MS susceptibility. It is gratifying to see these gene discoveries taken down the road to better understand the possible mechanism of their effects, which will then undoubtedly lead to better and more targeted treatments in the future.”
To view the media release please click here
[February] CCSVI Update on Buffalo Results
18 February 2010
The CCSVI results from Buffalo on February 10 continue to generate excitement in the MS community. They add to the existing body of knowledge regarding this condition; but do not provide any more information on how this finding relates to the pathogenesis of MS. Indeed there are still outstanding questions to be answered especially the existing established facts on MS such as the response to immune mediated therapy (both injected and oral), the latitudinal gradient and vitamin D levels in the susceptibility of MS and the course of MS in the majority (ie. relapses followed by progression).
It is imperative that this new observation and its suggested treatment be reconciled thoroughly with these well known aspects of MS. Undoubtedly there will be considerable comment from experts around the world in the major neurological and MS journals. The first of these are likely to be in print by April/May.
MSRA understands the sentiment of excitement arising from the Buffalo and other studies but urges that people with MS do not proceed to treatment of any identified venous abnormalities until further studies independently validate these findings.
In the meantime MSRA remains interested in any news that more completely explains the mechanism of the identified venous abnormalities.[January] CCSVI Update
28 January 2010
Chronic cerebrospinal venous insufficiency or CCSVI is a condition identified by Dr Zamboni in 2009 that may be causing MS inflammation in some patients.
As an update on CCSVI research, Australian researchers have begun clinical testing procedures and MS Research Australia (MSRA) has been actively involved in the international review of the initial clinical findings (from Dr Zamboni) involving venous obstruction and MS.
The Australian trials, initiated in December, are Perth-based and have tested an initial cohort of 20 patients for venous obstruction. We are following these tests keenly and will report on results when available. These trials are continuing and the researchers involved may seek further funding to verify initial findings.
Also, in early January, MSRA linked up with the National MS Society of the USA (NMSS) to be part of the international effort to properly evaluate this testing and treatment of potential venous obstruction relating to MS. There are now research proposals being encouraged and reviewed by a Joint Review Committee, set up by NMSS in conjunction with the MS Society of the UK and the MS International Federation.
The Australian research has registered with this international Review Committee for the purpose of seeking further support.
So there is local research underway. And MSRA is involved with the worldwide effort to establish how relevant the initial findings are. We will provide any results that become available, including from overseas, as soon as they are received.
[January] MS Advocate receives Australia Day Honour
Leaders from the multiple sclerosis movement have today congratulated Graham Tribe for being appointed a Member of the Order of Australia (AM) in recognition of his tireless commitment to Australians living with multiple sclerosis (MS).
The Vice President of Multiple Sclerosis Australia, Ian Pennell, said Graham was one of Australia’s most committed advocates for people with MS. “There has hardly been a major development in the MS movement in over 37 years that Graham has not passionately led or supported.
“His leadership has advanced the delivery of support to those affected by multiple sclerosis and substantially advanced the Australian contribution to the international effort to combat the disease,” Mr Pennell said.
Bill Younger, CEO of MS Australia – ACT/NSW/VIC said Graham’s work for people with MS had spanned an incredible 37 years. “Over the years, Graham’s unwavering commitment has resulted in many significant developments for people living with this unpredictable disease."
“For nearly four decades, Graham has served on our Boards and spearheaded momentous changes, like the creation of the MS Readathon™ as a national program to increase the money raised for the people that need it most,” said Mr Younger.
Amongst many, one of Graham’s most noteworthy achievements was the establishment of MS Research Australia (MSRA); a move that revolutionised and accelerated Australian research into multiple sclerosis.
“It was Graham’s visionary leadership that that led to this development,” said Jeremy Wright, Executive Director of MS Research Australia. “His personal contribution has guided us to a point now where MSRA is an equal partner with the National Health and Medical Research Council in funding MS research in this country and a real partner with the Australian MS research community in solving this terrible disease.”
In fact, through his work, Graham helped multiple sclerosis research increase five-fold in MSRA’s first four years. Now researchers can point to a number of world class breakthroughs arising from MSRA funded research.
Over many years, Graham has led the way in providing care and support to the 20,000 Australians who live with MS and through his commitment to the search for solutions, has tirelessly fought for a world free from the disease.
To view media release please click here
[January] Fingolimod and Cladribine Statement
Reports in the New England Journal of Medicine (21 January 2010) indicate that clinical trials of the drugs Fingolimod and Cladribine show favourable results for treating the symptoms of multiple sclerosis (MS). Fingolimod and Cladribine are pharmaceutical medications for relapsing-remitting MS and would be taken as capsules, as opposed to most currently available treatments, which are administered by injection.
MS Research Australia welcomes research into any new therapies which may give people living with MS more options for the reduction in disease activity and the strong possibility of less long term disability.
However, despite the exciting phase III trial data reported today these drugs are still at clinical trial stage and are yet to go through the required Therapeutic Goods Administration (TGA) assessment and other approval processes for use in Australia.
We are looking forward to the results of these assessments by the regulatory authorities in Australia to determine when these drugs will be available to help people with MS in Australia.
MSRA’s Scientific Chairman Prof Bill Carroll, featured in the same publication, gives details of each of these trials, click here for article.
[January] Media reports on Sativex
Several media reports (Friday 15 January 2010) indicate that doctors at the Royal Melbourne Hospital are aiming to test the drug Sativex for treatment of the symptoms of multiple sclerosis (MS). Sativex is a pharmaceutical medication derived from cannabis.
MS Research Australia (MSRA) welcomes research into any new therapies which may help people living with MS manage the symptoms of the disease.
However while the drug has been approved in other countries it is yet to go through the essential Therapeutic Goods Administration approval process in Australia.
We are looking forward to the results of this rigorous testing to determine whether this drug will be effective in helping people living with this disease.
It must be noted that this form of treatment is only symptomatic and will not slow or affect the course of MS. At best it will improve the quality of life for those with appropriate symptoms such as painful stiffness of muscles etc and will not replace but only supplement physical and other existing therapies.
People living with MS who require further information about this subject should contact the State MS Society for more information;
ACT/NSW/VIC - 1800 042 138
QLD - 1800 177 591
SA & NT - 1800 812 311
WA - 1800 022 222
TAS - 1800 676 721
For all media enquiries please contact Jeremy Wright on 1300 356 467.
[December] Stem Cell Treatment in Australia
A Canberra teenager with multiple sclerosis (MS) has shown positive signs of improvement after receiving stem cell treatment according to news reports. Ben Leahy, 19 years old and diagnosed with the disease in 2008 gives hope to those with MS who also have no other treatment options available.
Dr Colin Andrews, the Canberra based treating neurologist highlights that stem cell treatment of this kind may only suit certain types of patients with severe aggressive MS.
Prof Bill Carroll, MS Research Australia’s Scientific Chairman adds ‘With changes in the way bone marrow stem cell transplants are performed nowadays the risk of death has fallen. When this is combined with transplantation at a relatively early stage of aggressive disease the risk-benefit relationship has been improved considerably. At present this is not a treatment option to be considered for all MS. There is an increasing amount of research interest worldwide in this form of treatment”.
[December] Update on CCSVI and MS
Recent reports have sparked a flurry of media attention and revived an old idea of an association between a possible disruption in venous drainage and MS.
A recent study by Zamboni et al, (published in J Neurology Neurosurgery Psychiatry. 2009 Apr; 80 (4): 392-9. Epub. 2008 Dec 5.) on 65 people with different types of MS compared with 235 people who were healthy or had other neurological disorders, found a robust correlation between having MS and signs of venous insufficiency - suggesting that drainage of oxygen depleted blood by veins may be impaired in the central nervous system, causing or contributing to nerve tissue damage.
The investigators called this condition "chronic cerebrospinal venous insufficiency" (CCSVI). The treatment status of the people with MS did not appear to influence whether they showed signs of CCSVI. Venous drainage of the brain and spinal cord was examined using an ultrasound technique (Doppler). The researchers also noted that patterns of venous obstruction differed between people at different stages and courses of MS although there was no clear relation between severity of MS and extent of occlusion. The authors suggest that the abnormal venous drainage of blood back from the brain and spine might set off the inflammation and immune-mediated damage that is characteristic of MS.
If these findings were confirmed and shown to have an impact on the disease process, they would open up new avenues of research into the underlying pathology of MS and raise the possibility of new treatments. While the early data is interesting, the proposed mechanism is highly speculative. The main limitations are that the study is done on a small number of people and on those who already have clinical MS. Therefore it is not possible to distinguish whether the venous obstructions are the cause of MS or are part of the physiological changes in the central nervous venous system that result from MS. The concepts surrounding CCSVI and MS are still relatively new and require validation in much larger, well-designed scientific studies before they can be accepted as established. Further research is now underway.
MS Research Australia is closely monitoring all research related to CCSVI and will post new information on www.msra.org.au
Frequently Asked Questions About CCSVI and MS
Q: Does CCSVI cause MS?
A: At this point there is not enough evidence to draw conclusions on CCSVI and MS. Based on what has been published to date, we can only say that in some people MS may occur in association with impaired venous drainage of the central nervous system. There is not enough evidence to determine whether obstruction of veins causes MS, or is caused by MS, or even to determine when this obstruction may occur in the course of disease.
Q: How has CCSVI been treated?
A: Surgical procedures for CCSVI in MS have used "balloons" to open up obstructed veins or inserted stents into veins to help keep them open. These procedures are still very experimental, have been performed on only a very small number of patients and involve risks of bleeding or the formation of abnormal blood clots. The safety and beneficial effects of this treatment can only be assessed by a large scale clinical trial.
Q: Will the treatment of CCSVI be useful for the various forms of MS?
A: As research on this question is at a very early stage, it is currently unknown whether this type of treatment will be useful in any form of MS. More clinical studies are needed before it will be considered for approval in treating people with MS.
Q: I have MS. Should I be tested for signs of CCSVI?
A: No, unless you are involved in a research study exploring this phenomenon, since at this time there is no proven therapy to resolve any abnormalities that might be observed, and it is still not clear whether relieving venous obstructions would be beneficial for the treatment of MS.
Source: Multiple Sclerosis International Federation
[December] Australian involvement on MSIF biannual magazine's MS In Focus Editorial Board
Dr Elizabeth McDonald, Chairman, MSRA Social and Applied Research Sub-Committee represents Australia on the new Editorial Board of MSIF’s biannual magazine MS in focus. They recently met in London from 30 November to 1 December 2009 discussing topics for future issues and wider issues relating to the magazine including how the magazine can serve MSIF’s development aims and be accessible to the widest possible global audience.
To read more about the MSIF Editorial Board and meeting please click here
Left to right: back row - Sarah Finch (MSIF), Dorothea Pfohl (USA), Michele Messmer Uccelli (Italy), Martha King (USA) and Elizabeth McDonald (Australia).
Front row: Guy De Vos (Belgium), Silvia Traversa (Italy) and Pavel Zlobin (Russia).
Other board members missing from the photo:
· Dr Pablo Villoslada, Spain
· Peer Baneke, MSIF, CEO
· Dhia Chandraratna, MSIF, International Scientific Research Officer
· Zoe Burr, MSIF, Development Manager
[November] Australian MS Researchers show interest in new CCSVI Treatment
MS Australia and MS Research Australia (MSRA) are very aware of the reports from Italy and Canada regarding the vein disorder Dr Zamboni has called Chronic Cerebrospinal Venous Insufficiency or CCSVI. We are naturally interested in any diagnosis or treatment that may hold promise for people with MS. We are also aware that researchers in Australia are in active dialogue with the Italian research group.
MSRA understands that the diagnosis of CCSVI involves the identification of insufficient ‘draining’ of blood from the brain and spinal cord in certain patients and that the residual iron deposits may cause inflammation. The impressive evidence of improvement in many cases following the successful suppression of inflammation suggests that the postulated mechanism underlying CCSVI may operate in only a percentage of cases. So, while there may be a link to MS including Primary Progressive MS, researchers must still prove that CCSVI operates in more than just these cases.
Acknowledging the positive outcomes for the limited number of patients in Italy treated so far, researchers in Western Australia are looking at ways that Australian data can be added to the trials that are underway in Italy and possibly soon in Canada.
MSRA will monitor this approach as it develops and post further notices as information is made available.
[November] Greater funding, greater possibilities: Promising new projects in MS research for 2010
A total of $5.718 million in new funds has been announced for MS research projects starting from 2010 – from MS Research Australia (MSRA), the National Health and Medical Research Council (NHMRC) and the Australian Research Council (ARC).
MSRA has announced a record $2.721 million program for new research projects in 2010, including a $375,000 ARC grant. Add to this an impressive $2.99 million dollars in funding from the NHMRC and Australian MS researchers are benefiting with another $5.718 million to fund their vital work.
“This level of funding is a huge boost for our scientists who are all dedicated to finding urgent MS discoveries,” says MSRA Executive Director Jeremy Wright. “It is also encouraging to see many of our youngest and brightest scientists choosing MS research as their speciality.”
The eleven new projects MSRA will fund in 2010 will focus on Neurobiology, Immunology and Social and Applied research. These projects have been evaluated by rigorous review procedures. They have all been identified as delivering the promising results for MS treatments, prevention and our ultimate goal of a cure.
The latest projects range from interrogating the mechanisms that cause brain and spinal damage to determining the role Epstein-Bar virus plays in the development of MS.
MSRA continues to facilitate and fund research and is actively instrumental in the collaboration of many researchers and institutions both nationally and internationally.
To view a full list of the MS researchers funded for 2010 please click here
For more information on the MSRA funded projects please click here
[November] Prof Prineas accepts the 2009 Charcot Award
At the recent ECTRIMS 2009 conference held in Germany, Prof John Prineas received the 2009 Charcot Award recognising a lifetime of outstanding contribution to MS research. Prof Prineas has been at the forefront of neuropathology in MS. His recent findings of sick and dying cells in the early stages of MS, prior to the autoimmune response, have revolutionised the worldwide understanding of the disease, providing hope for new therapies which include the potential repair of neural damage.
For more information on the Charcot Award click here
Photo: Prof Prineas accepting the 2009 Multiple Sclerosis International Federations prestigious biennial Charcot Award from Prof Chris Polman, Deputy Chairman, MSIF's International Medical and Scientific Board (IMSB).
[September] The Ian Ballard Travelling Fellowship Awarded to A/Prof Fary Khan
A/Prof Fary Khan is a Principal Fellow of the Department of Medicine, Dentistry and Health Sciences at the University of Melbourne. She is also the Director of the Rehabilitation Medicine Department Royal Melbourne Hospital and Honorary Fellow at the Department of Epidemiology at Royal Melbourne Hospital.
On the 19th September, A/Prof Fary Khan was presented with the Ian Ballard Travelling Fellowship at the Trish MS Research Foundation's Hearts and Minds Ball held in Sydney.
The Inaugural Ian Ballard Travelling Fellowship will enable A/Prof Khan to:
- Meet and deliberate with world experts in MS research and MS management
- Learn new techniques that can be brought back to Australia
- Establish relationships with key scientists that may spur new international collaborations
- Accelerate the delivery of management for people with MS
A/Prof Khan plans to continue her work in Rehabilitation care for persons with MS. The study of health service framework models elsewhere (such as the National Services Framework in the UK) can contribute to the development of good practice locally to improve health and social care services for persons with long term neurological conditions, and their carers. The aims are to improve quality of life and independence by ensuring coordinated individualised care and support based on their needs.
A/Prof Khan will visit key experts specializing in MS care at Kings College London, Queen Square Institute of Neurology UK and Valens Hospital Switzerland.
In addition, A/Prof Khan will represent Australia at the prestigious International Forum on Quality and Safety in Health care in Nice (France) in April 2010. This conference is an opportunity to showcase the Australian MS Rehabilitation program, the quality improvements and its initiatives to improve patient care.
The knowledge and collaboration A/Prof Khan gains as a result of the Ian Ballard Travel Fellowship will enable innovation and improved patient care, enhancing and protecting the wellbeing of persons who are vulnerable and have complex needs in our community.
Photo: A/Prof Fary Khan (pictured left) was presented the Ian Ballard Travelling MS Fellowship award by Katie Ballard (pictured right).
[August] National search for proteins that cause MS
26 August 2009
Australian researchers will aim to discover the proteins that cause multiple sclerosis (MS), thanks to a new nationwide research effort being launched. This national research project – the first of its kind in Australia and one of the first of its kind in the world – will be launched at the University of Adelaide by the Hon. Mark Butler MP, Parliamentary Secretary for Health.
"This collaborative research project has the potential to find crucial answers about a debilitating disease that affects millions of people worldwide," Mr Butler says.
More than 2.5 million people worldwide have MS, with the disease costing the Australian community alone an estimated $2 billion each year. Despite considerable research efforts so far, there are few effective treatments for MS.
The new research project will receive funding of $1 million over four years, starting this year, under the Australian Research Council's (ARC) Linkage Projects funding scheme and from MS Research Australia (MSRA), the research arm of MS Australia.
The research is a major national MS collaboration between three Australian universities and the Sir Charles Gairdner Hospital, with the University of Adelaide as lead institution. The collaboration includes:
- Prof Shaun McColl, University of Adelaide (SA) (lead investigator)
- Prof Claude Bernard, Monash University (VIC)
- Prof Bill Carroll, Sir Charles Gairdner Hospital (WA)
- Dr Judith Greer, University of Queensland (QLD)
- Dr Peter Hoffmann, University of Adelaide (SA)
- Prof Ian Smith, Monash University (VIC)
"With MS, there are a number of major stages that occur in the disease, including activation and remission," says Prof Shaun McColl, Deputy Head of the School of Molecular & Biomedical Science at the University of Adelaide.
"At each of these major stages, certain genes are activated. Those genes express proteins, and we believe these could have the effect of switching the disease on and off. If we can discover the key proteins and their roles in the development of MS, we could go a long way towards finding potential treatments or cures for the condition," he says.
The area of research involved in discovering such proteins is known as proteomics.
"There is no doubt that identification of a set of proteins that are specifically linked to different stages and pathological processes in MS will provide insight into the disease," says Prof Claude Bernard, Group Leader of the Multiple Sclerosis Research Lab at Monash University. "It will also help evaluate the prognosis of patients with MS, guide their treatment and provide novel therapeutic approaches," he says.
Mr Jeremy Wright, Executive Director of MSRA, says: "This is a natural step for MSRA to help researchers make important new discoveries that will translate into real outcomes for people with MS. Together with the ARC, we are investing $1 million into this promising new area for MS research."
[July] Progress in MS Research Scientific Conference and Public Lecture 14 - 17th October 2009
MSRA’s 2009 Scientific Conference 'Progress in MS Research' provides a key opportunity for scientists, neurologists and clinicians to present their latest work and share ideas.
The MSRA 'Progress in MS Research' Scientific Conference takes place from the 14th – 17th October at Royal Prince Alfred Hospital in Sydney NSW.
We have a full program of presentations, featuring international and local experts, including:
- Dr May Han, Stanford University
- Dr Sreeram Ramagopalan, University of Oxford
- Dr Richard Burt, Northwestern University
- Dr Diane Playford, Institute of Neurology, London
- Dr Michael Barnett, University of Sydney
- Prof Michael Pender, The University of Queensland
- And others to be confirmed soon
15th - 16th October - Conference presentations will be in the areas of neuropathology, proteomics, genetics, virology, stem cells, and employment and MS.
Saturday 17th October - MSRA will host a Public Lecture for people with MS, carers and supporters. Key speakers will present the latest advances, and current challenges towards prevention, better treatments and a cure for MS.
Click here for further information.
[June] Aussie and Kiwi researchers make double MS genetic discovery
15 June 2009
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 Prof 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 Prof 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 Prof 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 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.
[June] NICS-MSRA Betty Cuthbert Fellowship Awarded
2 June 2009
Improving the management of painful loss of vision in people with Multiple Sclerosis (MS) is the goal of Dr Celia Chen, who has just received a National Institute of Clinical Studies (NICS) -MSRA Fellowship from the National Health and Medical Research Council and Multiple Sclerosis Research Australia.
Dr Chen is an ophthalmologist at Flinders Medical Centre in Adelaide. She will use her Fellowship to
undertake a two-year implementation project to address an important evidence-practice gap in the
management of acute optic neuritis in people with MS.
Read more about Dr Celia Chen here.
NHMRC link:
http://www.nhmrc.gov.au/nics/programs/_files/2009_nics_fellow_celia_chen_[mr].pdf
[May] Announcing the Ian Ballard Travelling Fellowship Award
MSRA announces the Ian Ballard Travelling Fellowship Award. The award is in honour of the late Ian Ballard who established Foundation 5 million.
The Ian Ballard Travel Fellowship is a valuable opportunity for international contact with MS experts that would otherwise be difficult to access.
The objectives of the Award are to give talented scientists/researchers the opportunity to:
- Meet and deliberate with world experts in MS research or MS management
- Learn new techniques that can be brought back to Australia
- Establish relationships with key scientists that may spur new international collaborations
- Accelerate the eventual delivery of a cure for MS and it’s management
The goal of the Fellowship is to increase innovation through information sharing amongst Australian based scientists and the best MS researchers in the world.
The closing date for applications is 15 July 2009. To obtain further information on the Ian Ballard Travelling Fellowship Award click here.
[May] New MSRA Senior Fellowship announced
MSRA announces a prestigious new Senior Fellowship for established MS Researchers, Practitioners and Neurologists.
The closing date for applications is 15 July 2009. For further information on the Senior Fellowship click here
[May] New Macquarie Group Foundation MSRA/UK MS Society Fellowship awarded
21 May 2009
Dr Julia Morahan is the first person and first Australian to be awarded the Macquarie Group Foundation Australia/UK MS Society Fellowship, an opportunity for talented scientists aimed at advancing leading-edge multiple sclerosis (MS) research between Australia and the UK.
Dr Morahan, a researcher in Motor Neurone Disease (MND) who has led The Stacey MND Molecular Biology Laboratory at the University of Sydney, is new to MS research. However, MND and MS share common elements, as they are both debilitating neurological diseases.
Dr Morahan, intends to further her research in the UK, into the genetic predisposition for MS. She will undertake a three-year post doctoral study in the Oxford laboratory of Professor George Ebers, one of the world’s eminent MS researchers, thanks to support from the Macquarie Group Foundation – the philanthropic arm of Macquarie Group.
Read more about Dr Morahan here.
[March] ABC 7.30 Report - Former union boss makes MS battle public
17 Tuesday March
Former Maritime Union boss John Coombs made his family’s private battle public when he went to Canberra this week to help put the case for increased federal government funding for Multiple Sclerosis research. John Coombs and his wife Gwen are the full time carers of their son Garry, who was diagnosed with MS nearly twenty years ago.
John talks publically about his son's battle with MS and his appeal to the Federal Government for increased MS research funding.
To view this moving report or to obtain a transcript of the interview click here.
[March] Australia poised to help solve the riddle of MS
Australia is tipped to play a key role in unlocking the devastating secrets of Multiple Sclerosis (MS).
So this week (17 March), a passionate group of advocates for MS research – including a world-leading health investor – will meet in Canberra to present the Federal Government with news on progress towards the possible prevention of MS and a portfolio of vital new MS research programs. This presentation follows recent Australian discoveries that have already received global recognition.
The group is hopeful that the Federal Government will commit $5 million this year for these programs – with a promise this will be matched by donations from private foundations and the general community raised through MS Research Australia (MSRA). MSRA, the Australian arm of MS Australia, has increased community funding for MS research five-fold since its establishment in 2004.
Dr John Richert, Vice President of Research and Clinical Programs for the US National MS Society – who oversees the world’s largest private budget for MS research – agrees with Australian scientists that the timing of life-saving research results depends largely on funding. Adding his voice to the call for increased investment in health is former Maritime Union of Australia leader, John Coombs, whose family lives with the trauma of MS.
Dr Richert backs his appeal for more Government funding by directly investing A$1 million of his US$40 million annual budget in Australian research. MS costs the community more than $2 billion per annum – a burden which calls for more than the (approx) A$3 million per annum currently allocated for MS research through the National Health and Medical Research Council.
MS also has a personal cost that is hard to measure for people living with MS. Their day-to-day lives include pain and uncertainty; hoping they can cross the street, hoping they can keep their jobs, hoping they will avoid entering a nursing home.
‘There is an opportunity for the Government to help Australian MS researchers in ground-breaking discoveries which will affect millions worldwide, including new diagnostic tools, MS prevention strategies and more targeted treatments,’ says Dr Richert. ‘Australian scientists punch well above their weight, especially considering their limited funding. But their efforts should not just be well regarded but also well resourced and integrated into clinical practice.’
Australian MS researchers are at the forefront in understanding the environmental and viral factors which could trigger MS. One Australian study has confirmed the ‘latitude gradient’ effect, which shows Tasmanians are eight times more likely to develop MS than Queenslanders. These results complement a new UK finding which links a lack of vitamin D to MS – findings that could lead to an important MS prevention trial, for which Australia is an ideal laboratory.
[February] Australian first –University of Sydney Professor wins prestigious Charcot Award
Professor John Prineas from the University of Sydney has won the prestigious Charcot Award from the MS International Federation, recognising a life-time of outstanding contribution to MS research. Prof Prineas has been at the forefront of neuropathology in MS. His recent findings of sick and dying cells in the early stages of MS - prior to the autoimmune response - have revolutionised our understanding of the disease, and provide hope for new therapies including the potential to repair the neural damage, characteristic of MS.
This is the first time an Australian has won this biennial award since it's inception in 1969. Click here for further information
Links:
- http://www.msif.org/en/news/msif_news/prof_john_prinea.html
- http://www.msif.org/en/research/msif_research_awards/2009_charcot.html
[February] Direct link between Sunlight, Vitamin D and MS Found
A new study has shown that vitamin D directly interacts with the single strongest gene known to increase the risk of developing Multiple Sclerosis (MS).
These findings support the connection between sunlight, vitamin D and genetic features of MS with major potential implications for prevention studies.
Prof Bill Carroll, Scientific Chairman of MSRA says “This is an exciting development that for the first time directly links vitamin D protective effect to the major MS susceptibility region of the human genome and has the potential to translate into a preventative measure that could help those at high risk of developing MS.”
MS is a common inflammatory disease of the brain that affects nearly 20,000 people in Australia, and 2.5 million around the world. Three times as many women are affected than men.
Scientists at the University of Oxford found a ‘vitamin D response element or VDRE’ in a region of the genome known to increase the genetic risk of MS in the Northern Europeans 3-fold.
Vitamin D is primarily made in the skin while intake from food accounts for a small proportion. It is direct exposure to sunlight that converts vitamin D into its active form. The VDRE found in the region of a MS gene is the first time a direct link has been made between major environmental and genetic risk factors for MS.
So what is the mechanism that potentially leads to MS? It is plausible that a lack of vitamin D in utero or early childhood can affect the development of an individual’s immune system. For MS, in people with this specific VDRE, a lack of vitamin D during early life could allow aberrant immune cells to develop and increase the risk of developing an autoimmune disease like MS.
Prof Carroll emphasises “This is a most important finding for all involved with MS as it begins to draw together those genetic and environmental factors known and suspected to interact and cause this lifelong condition.”. It may be possible to prevent MS through supplementation of vitamin D during critical periods such as in utero or early life.
What is clear is that MS is a complicated disease that is slowly being unravelled on the way towards prevention and a cure.
Links:
[February] Promising Stem Cells Treatment Underway
People with early stage MS were injected with stem cells taken from their bone marrow. Symptoms were significantly reduced in 17 people with MS out of 21 people involved in the study.
Drugs were used to remove the immune system cells called lymphocytes that were damaging the nervous system. These were replaced by new immune cells made with stem cells.
Prof Claude Bernard at Monash University is a leading immunologist working on the application of stem cells as a treatment for MS. He says ‘bone marrow transplant approaches have been around for some 10 years now and results so far have been inconclusive.’
He highlights ‘Tremendous potential lies in regenerating damaged cells through stem cell based therapies.’
Mr Jeremy Wright, Executive Director of MSRA says “Stem cell research will accelerate with these exciting results, in addition to the recent news of the first clinical trial utilising human embryonic stem cells approved in the US.”
As promising as these therapies appear, more work is necessary to ensure the long term safety, and determine whether they can maintain long lasting and significant improvements in people with MS.
Links:
[January 09] Oral treatments for MS on the horizon
Press reports over the last month or so have detailed exciting developments for the treatment of Relapsing Remitting MS.
The TRANSFORMS study (FINGOLIMOD or FTY720) and the CLARITY study (CLADRIBINE) have shown reductions in relapse rates of 52% and 60% respectively. Relapse rates are the most obvious measure of MS disease activity, others include degree of disability and changes in MRI.
Both FTY720 and CLADRIBINE used in the studies are oral preparations and will add to the range of treatment options available for the treatment of this devastating disease. However two important issues remain. These are:
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how effective is reducing relapse rate in terms of limiting long term disability and
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the long term side effect profile of these medications.
The hope is that the suppression of inflammation (the relapses) early in the course of the disease will reduce the long term brain and spinal cord injury which underlies the disability of MS.
The reports give added hope that the momentum towards finding a cure is gaining pace.
Prof Bill Carroll
Chair MSRA Research Management Council
[January 09] Australia Day Honours for Roy & Carol Langsford
MSRA & F5m supporters Roy and Carol Langsford both received an OAM in the 2009 Australia Day honours list in recognition for their services to people with MS through the establishment and development of the Trish MS Research Foundation. Through their tireless dedication they have raised over $1.6 million for MS research.
On behalf of MSRA & F5m, congratulations Roy & Carol for receiving recognition of the highest order for your dedication to finding the cause and a cure for MS.
Read more about the Trish Multiple Sclerosis Research Foundation .
[January 09] MSRA at MS Frontiers 2009 Conference
Dr Rex Simmons will represent MSRA as he presents on Australian MS Longitudinal Study. MS Frontiers is the UK MS Society’s key research event. This year's programme includes a focus on specific biomedical, clinical symptom relief and service development topics alongside plenary sessions that will appeal to all delegates. Dr Simmons’ work will illustrate the power of large-scale study of the economic impact and quality of life measures of people with MS. Read more here
[January 09] Young Aussie Sheds Light on MS Gene
A young Australian scientist adds to the debate over a genetic variant thought to increase MS susceptibility. Attila Szvetko has shown that a specific change within the gene encoding for human protein tyrosine phosphatase receptor type C (also known by the more palatable acronym PTPRC) does not play a role in the Australian Caucasian population.
This is despite previous studies reporting its role in increasing susceptibility to MS in German patients. Why could this be? It may be that there just weren’t enough samples to detect the modest differences that contribute to disease susceptibility in Australian Caucasians (Attila used 205 MS and 205 non-MS samples). It could also be possible that genetic variations within this gene differ between races.
MS is a genetically complex disease. It is likely that no single gene in isolation is the sole driver of MS susceptibility. For this reason, big genetics studies have more power to identify genes with modest effects in MS.
Advances in understanding the genetics of MS will be made in 2009. ANZgene, the Australasian genetics consortium is avidly deliberating over results from an 18 month study. In addition, ANZgene members are part of the International MS Genetics Consortium that will analyse over 18,000 samples from people with MS from around the world. Both of these studies will be a rich source of data to understand the role of specific genes in MS including PTPRC.
Attila has added a new finding to the pool of knowledge surrounding this gene. This work was part of his thesis at Griffith University under the supervision of Prof Lyn Griffiths. So what now for this high-achiever? Attila has been accepted into medical school starting in 2009.
Read more about this work in the next edition of Brain Research.
This research was funded by a Trish Multiple Sclerosis Research Foundation Postgraduate Research Scholarship (in association with MS Research Australia).
[January 09] Tysabri patient update
MSRA has been notified by Biogen Idec Medical Department that regrettably the third (of four) patients who have developed progressive multifocal leukoencephalopathy (PML) while on TYSABRI in this post marketing period, has recently died. This is a sombre message at this time of year but highlights the continuing need for close surveillance.
Early detection and a prompt response offer the most effective treatment for this depressing but rare complication. Changes in mental activity, personality or confusion and the sub acute onset of hemi motor or sensory symptoms all should alert the need for urgent neurological review.
Prof W M CARROLL
Chair MSRA Research Management Council