FAST Global Highlight - Australia
In Australia, a group of parents of young and newly diagnosed children came together informally to discuss joining the global search for a cure after FAST United States was formed in 2008. Given the groundswell of enthusiasm for research leading toward a cure, the group decided to formalize an Australian chapter of the Foundation for Angelman Syndrome Therapeutics, with Meagan Cross as the Chairperson. In 2010, FAST Australia was officially launched by the newly formed board of directors and scientific advisory committee, with deductible gift recipient status in Australia as a national health promotion charity to fund best practices in care and treatments and advancing research towards a cure.
Our vision was to collaborate globally and promote and encourage unique research in Australia towards a cure. To do this, we had to build a network of stakeholders and raise the profile of the syndrome through advocacy and increased awareness and education into new global research. Our agenda included addressing delays in diagnosis and underdiagnosis of the condition in Australia, as well as disparities in the standard of care across the country.
Our geographical location highlighted the lack of statistically significant global data on Angelman syndrome; outside of clinic settings, largely in the United States. No large datasets were easily accessible to stakeholders, and the idea for the Global Angelman Syndrome Registry was born. The development of this project was funded in 2014 by the Centre for Health Genomics Perth, Western Australia, in tandem with the recruitment of a data curator based in Brisbane, Australia. The project has gone through multiple iterations and improvements and is now housed with the Queensland University of Technology with a team of highly qualified data scientists and developers. The Global Registry holds the records of almost 2000 individuals with Angelman syndrome in over 70 different countries and is translated into four different languages. Data is accessed regularly from a range of stakeholders, and there are currently four publications directly attributed to data collection and more in the pipeline.
Our charter is to collaborate globally and promote and encourage unique research in Australia towards a cure. With the bulk of the research underway in the United States, our goal was to find and fund research gaps without duplication and contribute to global projects such, but not limited to, "Characterisation of an Angelman Syndrome large animal model" with Texas A&M, the” generation of mouse lines expressing human UBE3A antisense”, "Quantifying EEG abnormalities and identifying biomarkers in Angelman Syndrome" and "Potential therapeutic approach for synaptic deficit in Angelman syndrome: the JNK inhibitor peptide".
FAST Australia began to organize educational seminars before formation to educate Australian families, clinicians and researchers interested in Angelman syndrome. To date we have held eight well-attended seminars and one virtual seminar, hosting a range of national and international speakers across the country. We work closely with the Angelman syndrome Association of Australia to ensure that we provide families with support across all the facets of AS, our first joint conference, delayed by covid19, will be held in Brisbane in 2023.
Although Angelman syndrome is underdiagnosed in Australia, we have an incredibly passionate community. We have been fortunate to have some hugely successful fundraisers from parent-organised Gala balls, sporting events like marathons and iron man crusades, and group challenges such as “Sleepless and September,” and what will become an annual challenge “Move for a Cure".
Our top strategic priorities currently are;
- The Global Angelman Syndrome Registry - growing participant data globally, including more translations to highly populated countries, clinical data capture, building the associated biobank, and encouraging further collaboration such as Search & Rescue and country based and global caregiver burden studies.
- Australian Angelman Clinic network and virtual centre of excellence - commencing with three sites, we are hiring three clinical nurse specialists to coordinate appointments and specialists using the Global Angelman Syndrome registry to generate intake data and report clinical natural history. Our goal is to build the network to ensure we have the population and expertise to host clinical trials easily and to ensure that expert clinical care in line with recently published standards of care, including crisis care, can be delivered across the country regardless of geographical location or age. Further conferences, clinical and parent education sessions are built into this model.
- Readiness for therapeutics - we have funded a Health Economic study into the cost of Angelman syndrome (2016) and work to advocate for Newborn Bloodspot inclusion (2018). We continue to build on these bodies of work whilst speaking to relevant policymakers to ensure that, in the event of therapeutics being approved for Angelman syndrome, treatments are both accessible and affordable.
We are honored to collaborate with the FAST organizations around the world as we work together to cure Angelman syndrome.
Meagan Cross (Chairperson & founding member) | Shane Jez (Deputy Chair, Secretary) | Sally Asfour (Treasurer) | Chloe Simons (Chief Science Officer & founding member) | Peta Perrie (Fundraising) | Anubhuti Madan (Communications) | Felicity Dowden (Clinical Liaison) | Sarah Johnston (Communications & fundraising) | Anna Walsh (Science & clinical advisory).