About Us - BrAshA-T, Brisbane, Australia
BrAshA-T was founded in 2007 by Sean and Krissy Roebig from Brisbane (Australia) after two of their young children, Brady and Ashleigh, then aged 3 and 2 respectively, were diagnosed with A-T (Ataxia-telangiectasia pronounced ay-TACK-see-uh Tey-LAN-jick-TAY-sha).
Determined to do something about their situation, the Roebigs created the charitable foundation called BrAshA-T to raise money to support research into finding a cure and as a means for creating a support network for other families dealing with A-T.
As Ataxia-Telangiectasia is such a rare disease (approx 40 diagnosed children in Australia), families feel very isolated and alone. Our goal is to change this for families and let them know they are not alone and someone is fighting for their children’s future.
- Research: fund medical research into the causes, prevention and treatment of A-T
- Awareness: engage in activities to raise community awareness of A-T
- Support: provide emotional support and limited financial assistance for sufferers of A-T
- Fundraising: engage in fundraising activities to make it possible to fulfil Our Mission
100% Voluntary-run with DGR Status
BrAshA-T Ataxia-Telangiectasia Limited is a not-for-profit company limited by guarantee which has been endorsed by the ATO as a DGR (Deductible Gift Recipient).
You are welcome to inspect our registration with the ACNC (Australian Charities and Not-for-profits Commission).
We are a 100% voluntary-run organisation thanks to the tireless efforts of an army of supporters and a most committed Board:
Founder, Krissy Roebig, resigned from the board in 2015 to devote time to her family.
Presidents Report - 2019 Financial Year
Thank-you to all of the members of the Board over the 2018/19 Financial Year. As a 100% volunteer run organisation, I'm very proud of how much we are able to achieve for such a rare disease.
Rob Marcialis stepped-down from the board during the year and Leah Ward has chosen to step-down at the AGM. Many thanks to both Rob and Leah for all of their support on the board, especially considering they both work full-time and are primary carers for A-T Superstars. Representation from A-T families is vital to sound decision making on the board so they are both significant losses to the organisation however the impact was very much lessened with Gabe Marcialis replacing Rob on the board.
While technically it was during the 2020 year (August 2019) that Jenny Johnston resigned from the board, it just wouldn't be right to not take the opportunity now to thank Jenny for all of her efforts during the entire 12 year history of BrAshA-T, a truly marvellous effort! A special thank you also to Jenny's husband, Johno, who was an ever-present supporter of BrAshA-T and of the time Jenny devoted to the BrAshA-T cause.
I wish to acknowledge Prof Ernst Wolvetang and Prof Martin Lavin for forming an integral part of our Research Advisory Board. We are blessed to have two of the world's leaders in their respective fields right here in Brisbane. The opportunity to meet face-to-face with them on a regular basis is invaluable and they are always very giving of their time despite extremely busy schedules.
A record $315,000 was spent on several research project throughout the year including:
- Lung Project - Prof Martin Lavin and Abrey Yeo, UQCCR (University Queensland Centre for Clinical Research)
- Generation, Correction and Differentiation of AT-iPSC (A-T induced pluripotent stem cells) - Prof Ernst Wolvetang, AIBN (Australian Institute for Bioengineering and Nanotechnology)
- Oxidative Stress, Metabolite Insufficience and Mitochondrial Dysfunction – Prof Martin Lavin and Prof Dave Coman, UQCCR/Wesley Medical Research
- The Use of Stem Cell-Derived Neurons for Understanding Development and Disease of the Cerebellum - Sam Nayler and Esther Becker, University of Oxford (UK)
- Longitudinal Brain Studies - Dr Rob Dineen, University of Nottingham (UK). Co-funded with Action for A-T
- Blood Cancer Therapies - Prof Malcolm Taylor, University of Birmingham (UK). Co-funded with Action for A-T
- Natural History of A-T - Dr William Whitehouse and Dr Emily Petley, University of Nottingham (UK) co-funded with Action for A-T and A-T Society
- Global A-T Family Data Platform - led by A-T Children's Project, with Whole Genome Sequencing of Australian A-T patients funded by BrAshA-T
- ASO Gene Therapy - Dr Timothy Wu, Harvard/Boston Children's Hospital, led by A-T Children's Project with contributions from BrAshA-T, Action for A-T and A-T Society
- ATTeST International Clinical Trial - Dr Monique Ryan, Royal Children's Hospital Melbourne, funded by Erydel, with recruitment support from BrAshA-T
The National A-T Clinic has gone from strength to strength thanks to the Queensland Children's Hospital, Wesley Medical Research, Dr. Dave Coman, Nicoletta Sandona and the many clinicians who participated. Clinics were held in November 2018 and May of this year and also serve as a valuable source of data for research and the opportunity for social interaction amongst the A-T Superstars and their families.
An important date on the calendar during the year was the A-T Clinical Research Conference in Naples in December 2018. Many thanks to Natalie Elkheir and Leah Ward for representing BrAshA-T. Along with ATW2019 in Houston, we contributed $16,000 towards the sponsorship of the two conferences.
2019 was a bumper year for fundraising with $334,500 raised! Fundraising is an essential element in our quest to find a cure for A-T and this past year has been exceptional in this area thanks to:
- Jeff & Carly Millar and the Wagga Wagga community who continued to build on the impressive 2018 total for the Walk to Everest for A-T fundraiser taking the overall tally to $276,500!
- Andie & Gav Clifford and their Stephanie's Choice fundraiser which raised $10,300. This was their daughter, Stephie's, finally legacy in the fight for a cure after she sadly passed away in October 2018
- Stephen Benson and about 20 of his mates and the 70km Paddle for Madi (in kayaks from Bulahdelah down to the broadwater, around the Myall Lakes, and back to Bulahdelah) which raised $35,500!
- Katherine Starr, Scott Robson and their team of dedicated volunteers who, in their 5th year of the Beard Up Boys, raised a record $52,700. In the 5 years the Beard Up Boys have been fundraising, they have raised in excess of $134,000!
- Sal & Nat Elkheir through Coles Supermarkets raised an impressive $18,800 with the Purple Hearts, donation tins and staff fundraisers through Sal's region of Sydney supermarkets. This takes the total raised to $142,800 over the past 4 years!
- Wayne Millar, Jeff Millar's father, for arranging BrAshA-T as TEFMA's nominated charity which raised $6,400 during the year
While research and finding a cure is our #1 priority, another very important function of BrAshA-T is providing support to A-T families, especially those that have been recently diagnosed. Our closed Facebook page, along with replies to public enquiries, are often a tremendous source of comfort and a realisation for families that they are not alone in their fight against A-T. Many thanks to Natalie Elkheir who has taken the lead role in this important function.
Sadly we lost Aaron Jordan during the year. Aaron was a much loved superhero, always smiling, never giving up, despite the challenges and obstacles he faced throughout his life. Nobody can claim to raise awareness for A-T more than Aaron along with his mother,Brenda, and sister Chloe. You can learn more about Aaron and his family's journey here.
Finally, thank you to the hundreds of people who supported BrAshA-T throughout the year. Your support is what gives us real hope that we will find a cure in the not too distant future.
Our Achievements So Far
Since getting up and running in late 2007, we are starting to bear the fruits of our efforts with considerable progress towards achieving our long-term goals:
- Created a support network for families around Australia affected by A-T who are now in contact with each other as well as the foundation
- Established a National A-T Clinic, fully funded by BrAshA-T and supported by The Wesley Medical Research Centre and the Queensland Childrens’ Hospital, to provide a team of expert doctors who will see every child in Australia diagnosed with A-T
- Established a scholarship to support post-graduate student, Romal Stewart, to obtain a first class Honour’s degree through the University of Southern Queensland. Romal conducted his studies at the Queensland Institute of Medical Research under the supervision of Professors Martin Lavin and Mike Kotig and Dr Sergei Kozlov. His project was designed to investigate how the ATM protein (defective in ataxia-telangiectasia) is activated with a view to understanding how this protein protects against cancer and neurodegenerative disease
- Committed to provide funding support for two more PhD Scholarships
- Committed funding to the Scientific Research Meetings - ATW 2010 in Los Angeles, ATW 2012 in New Delhi, 2018 A-T Clinical Research Conference in Naples and ATW 2019 in Houston
- Funded in collaboration with A-T Children’s Project (US) research by the University of Queensland’s Centre for Clinical Research using advanced imaging techniques to compare the brain circuitry of A-T patients with healthy children, particularly as it relates to motor function
- Funded in collaboration with A-T Children’s Project (US) a project led by Professor Martin Lavin of the University of Queensland’s Centre for Clinical Research (UQCCR) investigating the role of oxidative stress in lung disease in A-T patients (currently ongoing)
- Funded a project led by Professor Ernst Wolvetang of the University of Queensland’s Australian Institute for Bioengineering and Nanotechnology (AIBN) targeting cerebellar degeneration in A-T using induced pluripotent stem cells (currently ongoing)
- Funded in collaboration with Action for A-T (UK) a project led by Professor Malcolm Taylor of the University of Birmingham’s Institute of Cancer and Genomic Sciences identifying new therapies to alleviate blood cancers in A-T patients (currently ongoing)
- Funded in collaboration with Action for A-T (UK) a project led by Dr Robert Dineen of the University of Nottingham involving MRI scans to see how brain structures change over time in children and young people with A-T (currently ongoing)
- Funded Dr Samuel Nayler (PhD, Hons) after he secured the prestigious Nuffield Medical Fellowship at Oxford University, where he is continuing his work on A-T, with the view of returning to Brisbane with his newly acquired knowledge and continue his contribution to A-T research in collaboration with Professor’s Lavin and Wolvetang.
- Funded in collaboration with Action for A-T (UK) a project led by Dr Samuel Nayler who will create cerebellar organoids or 'mini-brains' from induced pluripotent stem cells (iPSCs) derived from A-T patients, offering the potential to create 'avatars' of individual A-T patients which can be screened with thousands of potential drugs or compunds (currently ongoing)
- Funded in collaboration with Action for A-T (UK) and A-T Society (UK) a study led by Dr William Whitehouse at the University of Nottingham documenting the natural history and progression of A-T, enabling clinicians to help patients better manage their condition, intervene with strategies early in the course of the disease, identify services and support needed and inform future clinical trials, working towards greater symptomatic treatment and cures (currently ongoing)
We are just one of many Rare Diseases