The Australian Ataxia Telangiectasia (A-T) Clinic was established in March 2010 and officially opened at that time. Funding for the service is provided by Queensland Health following long-term lobbying by parent groups who desired a dedicated clinic for professionals to develop expertise in managing this complex disorder, promote and offer access to A-T research projects, facilitate involvement in clinical trials, and to be part of an international network of Ataxia Telangiectasia clinics. It is the only dedicated A-T clinic in Australia.
The clinic serves to optimise the management of patients with Ataxia Telangiectasia, provide access to new and existing treatments, and improve quality of life and health outcomes. We work collaboratively with families, and organisations such as UQCCR, QIMR, GHQ, Montrose Access Queensland, BrAsh-AT and professionals throughout Australia to provide services to patients with A-T. The A-T clinics provides access to clinicians who are experts in their field and will help address the multi-system nature of A-T and offer A-T specific research projects.
Three clinics are held each year, with 18 clinic places. Demand and access to clinics is reviewed each quarter. Patients can attend yearly.
Read more...The International A-T Workshop has been held every few years since 1980 in different parts of the world. The meeting is unique in that it focuses on the various facets of A-T, the disease, and ATM function.
The 14th International Workshop on A-T was held in New Delhi on February 7-11, 2012. BrAshA-T supported this very important event (as it has in the past in Japan in 2008 and LA in 2010) by attending the workshop and contributing towards its operational costs.
The Ataxia-Telangiectasia ATW2012 is held every two years around the world. It is designed for researchers, scientists and clinicians to present and exchange research they have been undertaking in a hope to hasten results for A-T sufferers. It is also an extremely important networking opportunity for other A-T organisations such as BrAshA-T to discuss funding research, different aspects of clinics, support for families and fundraising options.
I would like to thank the organisers of ATW2012 for their dedication and hard work to make the conference successful. I would also like to thank the sponsors and foundations around the world for contributing funds to the conference, including BrAshA-T.
It was great to arrive in Delhi after a long trip from Brisbane; almost 24 hours from start to finish. We arrived late at night and Delhi airport was bedlam to say the least. We jumped into a taxi and took a very educational drive into our hotel at the Radisson where the ATW2012 was to be held.
The conference ran for five days and was directed at scientists and clinicians, with a strong scientific approach. Presentations were given by clinicians, researchers and PHD Students. The scope of research underway around the world is exciting, even with no “cure” in an estimated time frame. I would like to mention that the presentations by our Australian researchers were held in high regard. Our PHD students can go home proud of the reception they were given regarding stem cell research. There were several discussions held about collaborations being formed for countries to work together to hasten these results.
The A-T Society (UK) will be hosting the first clinical meeting of its kind in June 2012. This meeting is for Doctors to meet and discuss the clinical aspects of A-T, focusing on imaging studies and therapeutic strategies, including the much talked about clinical trials using steroids. They are hoping that other countries will follow suit and offer to host meetings in the off year to the scientific meetings.
Brad Margus has just released a statement on behalf of the A-T Children’s Project inviting 400 researchers and clinicians to attend a Global Neuroscience and Drug Discovery Forum in October 2012. This will be the third major gathering of passionate, dedicated researchers and clinicians in one year. Families all over the world have been waiting for a rapid attack using research as artillery, planned for 2012. Congratulations to both the UK Society and the A-T Children’s Project for making this happen. BrAshA-T has put their intentions forward to host the ATW 2015 and will also offer to host a clinician’s meeting in the future, while continuing to support host countries until then.
As a parent I want to know what is happening regarding research and I want to be told that there is a cure for A-T, when this will happen, how and why. As the president of a organisation set up to fund research, I understand that these questions do not have the answers that I seek as a parent. Research is ongoing in numerous different areas in many countries. I take comfort knowing these researchers are doing all they can to help our children. Can they tell us when they will find a cure? No they can’t. Are they telling us it is pointless and to give up? Definitely not! While we know that time goes very fast in the lives of our children who have A-T, I firmly believe that we must stay positive and never give up hope. When you listen to our young researchers like Sam, Nayler and Romal talk about their work with such passion and hope, it is easy to believe and stay hopeful. BrAshA-T will continue to support them. Never give up.
The 14th International Workshop on Ataxia-Telangiectasia brought together scientists from across the globe to New Delhi to present and discuss recent developments in this field of research and related topics. The conference was organised by Dr Tej Pandita, University of Southwestern Medical Center, Dallas, Texas who was ably supported by an international and local organising committee. A variety of presentations were delivered within the general areas: DNA Damage Response, Cancer; Cancer and Genomic Instability and Neurodegenerative Disease. The keynote address “Ataxia-Telangiectasia: Bedside to Bench to Bedside” was delivered by Michael Kastan, Duke Cancer Institute who has made seminal contributions to research on this disorder over the years. He emphasised the pleiotrophic nature of the disorder which included neurodegeneration, cancer predisposition, immunotherapy and also vascular disease arising from ATM deficiency. There is evidence that ATM haploinsufficiency was a common precursor for metabolic syndrome and chloroquine (an ATM activator) led to improvement in the symptoms of metabolic syndrome. He showed that oxidative stress in Atm deficient mice could be rescued by reactive oxygen species (ROS) scavengers and provided evidence that this stress arose due to a mitochondrial defect. He went on to discuss the manipulation of ATM-dependent signalling pathways for clinical benefit including radiosensitisation of tumours.
Not surprisingly, a major focus of the meeting was events associated with the response to DNA damage. It is now well established that ATM is activated by DNA double strand breaks and other alterations to chromatin to maintain the integrity of the genome and minimize the risk of cancer and other pathologies. It is also evident that ATM is activated by oxidative stress not involving DNA damage which may also be of relevance to the onset of neurodegeneration when this protein is absent.
While the emphasis at ATW2012 was largely on studies at the cellular and molecular levels, most speakers made reference to the ultimate goal of these investigations i.e. understanding the nature of neurodegeneration and cancer predisposition. Tom Crawford (Baltimore) spoke of the complicated neurology associated with A-T and its multiple manifestations which were variable from patient-to-patient but quite similar between siblings. He pointed out that A-T was not an ingravescent disorder. Use of classical cerebellar tests developed for Friedreich’s ataxia (ICAR and SARA scores) reveal that neurological deterioration stabilises with time in A-T patients. While short term improvement has been observed in patients given L-dopa it is evident that a cure for this disease will only come from the development of more novel therapies based on the many approaches been employed to investigate this disorder. A colleague of Crawford's, Howard Lederman, also from Baltimore revealed that cancer survivors among A-T patients developed interstitial lung disease in response to corticosteroids. Non-infectious hepatitis and cirrhosis were also observed in A-T patients: there was also evidence for inflammation in patients as judged by serum levels of IL-8. However, to date, there is no evidence of inflammation in the CNS of patients.
Australia was well represented at the meeting with seven attendees from Brisbane including two invited speakers Professor Martin Lavin and Dr Kum Kum Khanna. Both were also members of the International Organising Committee for the meeting. The Brisbane group was supported by BrAshA-T who paid all expenses for three PhD students, Sam Nayler, Romal Stewart and Abrey Yeo. BrAshA-T also provides scholarship support for these students for their studies on A-T. Romal and Sam presented their work on A-T stem cells which was well received and held great potential for future approaches to treating A-T patients. Krissy Roebig, joint founder of BrAshA-T, also attended the meeting and met with medical scientists and members of other A-T support organisations.
In summarising the meeting Professor Lavin pointed to the great advances being made in understanding how the ATM protein, deficient in patients with A-T, functions in protecting the genome against genotoxic stress to reduce the risk of cancer and neurological problems. In keeping with the high standards of previous workshops this meeting not only described the role of ATM in the response against stress but it provided greater insight into mechanisms of cancer development and how ATM helps to protect against these cancers. More insight was also obtained on the extent of the neuropathology in the cerebellum of A-T patients. While the emphasis in this meeting was on molecular and cellular studies on A-T patients he pointed out that this meeting would be followed by two additional meetings later this year where the emphasis would be on clinical aspects. The first of these "A-T Clinical research Conference" will be held in Cambridge, June 21-23 2012 and as the name suggests will examine in more depth advances in the management, treatment and new potential therapies for A-T. A third conference is in the planning stages for October 2012, organised by the A-T Children's project, to specifically address approaches to treating the neurological defect in A-T patients.
The next A-T Workshop is scheduled to be held in Birmingham, UK in July 2013. Krissy Roebig and Martin Lavin gave notice to the organising committee of their intention to lodge a bid for the following meeting (2015) which would be held in the Brisbane area.
In addition to other scientists around the world, we are very fortunate to have researchers in our home city of Brisbane, Australia who are working on a cure for A-T. Professor Martin Lavin and his team at QIMR (Queensland Institute of Medical Research) have been terrific in helping us better understand A-T and the advances that are being made in finding a cure.
We are proud to announce a major step in the fight against A-T with the commencement of the search for a suitable applicant for the BrAshA-T PhD Scholarship. This advertisement (closing date 30 January 2009) has been circulated to 32 universities across Australia by QIMR's Martin Lavin in the hope of finding a first-class researcher.
From April 22-26, 2008, a workshop was held in Shiga, Japan and Krissy was fortunate enough to be able to attend - her first overseas trip! Highlights of the trip included hearing the latest research developments from the actual researchers and scientists and meeting people from other A-T organisations including Maureen from the AT Society (UK) and Brad Margus of the A-T Children's Project (USA). Brad has probably done more than anyone in the world else to raise awareness and funds for the fight against A-T.
It was also encouraging to see so many attendees at the conference (click here for pic) for such a rare disease and as one of the researchers told Krissy, "don't forget that for each of us here at this conference, there is a team of people from where each of us came from who are also working hard for a cure".
Professor Martin Lavin and the Qld Institute of Medical Research hosted an Ataxia-Telangiectasia Forum at the Institute in Brisbane on Friday the 23rd of May 2008. Among the speakers was BrAshA-T's Krissy Roebig, Professor Martin Lavin and keynote speaker, Professor Thomas Crawford, visiting neurologist form the United States (click here for pics).
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