Institute for Molecular Bioscience's Human Studies Manager Anjali Henders speaks with MND patients and carers about the ALS data resource.
(Photo credit: Institute for Molecular Bioscience )
It has been 12 years since the ice-bucket challenge went viral on social media across the world, but its impact is still front of mind for University of Queensland researchers who have developed a new database to combat Motor Neurone Disease (MND).
Key points
- UQ researchers collaborated with clinicians and researchers across Australia to establish the world's most comprehensive Amyotrophic Lateral Sclerosis patient data collection.
- The database features information and samples from more than 1300 Australian ALS patients to create a platform to advance understanding of MND.
- Biobanked samples of blood, tissue and genetic material that researchers will be able to use to validate drugs and develop targeted therapies will be based at UQ..
The researchers collaborated with clinicians and researchers across Australia to establish the world's most comprehensive unified patient data collection of Amyotrophic Lateral Sclerosis (ALS), which is the most common and aggressive form of MND that usually results in death within 3-5 years.
As the globe marks World MND Day on Sunday (June 21), Associate Professor Shyuan Ngo , from UQ's Centre for Motor Neuron Disease Research , said the new database features information and samples from more than 1300 Australian ALS patients, and is the starting point for better detection and higher survival rates.
"MND is ruthless and about 90 per cent of cases appear to occur randomly in people with no family history of the disease so more research is needed," Dr Ngo said.
"Establishing unified data collection across clinics nationally was incredibly complex, but neurologists from across Australia recognised the importance of having matched clinical and biological data which are key to better understanding disease progression.
"This database creates a powerful national platform to advance our understanding of MND that we hope will lead to breakthroughs in earlier diagnosis, new therapies and better survival rates.
"MND is a condition that has a short life expectancy and has no cure. It is devastating for patients and their families, so the more we know the better."
It is estimated that 0.3 per cent of people will be affected with ALS in their lifetime, and it can come unexpectedly to individuals with no family history.
The database - Strategic ALS Australia - Systems Genomics Consortium (SALSA-SGC) - will be stored at UQ and includes biobanked samples of blood, tissue and genetic material that researchers will be able to use to validate drugs and develop targeted therapies.
Lead senior author Professor Naomi Wray , from UQ's Institute of Molecular Bioscience , said the database has already led to some new findings about ALS.
"ALS can impact people with no family history, but we know genetic factors still play a role in these cases," Professor Wray said.
"This database has helped us understand more about these genetic markers and what the risk factors are, which has opened up new avenues for research.
"Studies from this database have shown metabolic, inflammatory and cholesterol pathways can contribute to the progression of ALS disease."
Professor Wray said the platform will enable scientists across the world to generate new data and advance ALS research in the decades ahead.
"People diagnosed with ALS overwhelmingly recognise the value of big data and have been pleased to contribute to research to help those who receive their diagnosis in years to come".
MND Australia CEO Clare Sullivan said the organisation proudly supported the critical research with funds raised from the Ice-Bucket Challenge that swept the globe in 2014.
"The challenge not only connected MND researchers around the world but also created hope amongst the MND community," Ms Sullivan said.
This research was funded by an Ice-Bucket Challenge Grant from MND Australia, with further funding provided by the Peter Goodenough Trust and NHMRC. The project is also supported by FightMND, MND and Me Foundation, the Nerve Connection Foundation and the Halpin Trust.
Read the research published in BMJ Open.
Collaboration and acknowledgements
This project was conducted in collaboration with Macquarie University, Neuroscience Research Australia, University of Adelaide, Harry Perkins Institute, Calvary Health Care Bethlehem, University of Sydney, Royal Women's and Brisbane Hospital, Flinders Medical Centre, Barwon Health and University of Oxford.
