Don’t Say. Do. filming starts at Big Plans Melbourne.
You often hear us say that it takes a team to beat the Beast. From those on the front-line researching treatments and a cure to our wonderful volunteers who help raise vital funds, we all have a role to play.
This year we were fortunate to film our Don’t Say. Do. campaign TVC at Big Plans in North Melbourne. Designed to bring architectural floorplans to life, this unique space provided the perfect backdrop for filming our Big Freeze 10 campaign and reflect on a milestone 10 years.
We wanted to take you behind the scenes of the filming for this year’s campaign.
FightMND ambassadors gather to film the Big Freeze 10 campaign video in February 2024.
Adena Sevva and her children getting ready to film.
Bec and Neale Daniher filming the Big Freeze 10 campaign video
Neale Daniher during the Big Freeze 10 campaign video
We want to take this opportunity to thank Tass, Dario and the Big Plans Melbourne team for their support during Big Freeze 10. For more information about Big Plans, visit their website.
Still want to support FightMND, but missed the Big Freeze? Don’t worry. Check out our Ways to Support section to learn more about how you can help us beat the Beast that is MND.
MELBOURNE, AUSTRALIA – JUNE 10: Former AFL player, Nic Naitanui goes down the slide during the 2024 FightMND Big Freeze at Melbourne Cricket Ground on June 10, 2024 in Melbourne, Australia. (Photo by Josh Chadwick)
This year we called on you to embody the words of our Co-founder and Patron, Neale Daniher and use your actions over your words. Don’t Say. Do.
And act you did! Thanks to your support, we’ve raised a record-breaking $20.1 million during Big Freeze 10.
This achievement would not be possible without the incredible generosity of our partners, supporters, suppliers and the Australian community.
We recognise that many Australians are doing it tough right now. To everyone who dug deep and purchased a Beanie, a sweater or pair of socks, or who donated generously throughout Big Freeze 10, thank you. Your support has helped make this our biggest result ever!
Our Programs team is working hard to invest these funds into vital MND cure and care initiatives. We look forward to sharing more information about these initiatives with you when we announce our grants later in 2024.
The funds raised during Big Freeze 10 adds to the $97 million FightMND has invested into vital MND cure and care initiatives. Our Impact page has more information about how your support has made a read difference in research outcomes and improving the lives of people impacted by MND.
Ten years of the Big Freeze is truly a milestone. As we reflect on the blows we’ve made to the Beast together, we recognise that the job is not over. This was never a battle that was going to be won in a sprint. We still have work to do, and we need your help to do it.
Stay tuned over the coming months more information about Daniher’s Drive and, of course, Big Freeze 11. We hope that you can continue to join us in the fight against the Beast that is MND.
Now, while Melbourne and Collingwood gear up for their King’s Birthday clash, 9 celebrities are preparing to take the icy plunge – all in the aim of raising vital funds for MND research.
To be a Slider is deemed an honour. At FightMND, we’re for thankful to all those who have braved the icy conditions to help raise funds and awareness for this important cause. As the event grows, we continue to see our celebrities lift the bar on the costume front – with many asking, ‘What is your costume this year?’. For many, Nick Riewoldt’s Freddie Mercury is the most memorable. The question is, will his cousin Jack take his costume crown? Only time will tell!
Each year there has been standouts. For right or wrong reasons. In the spirt of ‘10’ here are 10 of our highlights. What’s yours?
Sam Newman’s’ Mankini in year one as he showed his wares to the world.
Mick Molloy plunging headfirst and surviving.
Sharelle McMahon shaking off the cold to nail a goal post slide.
Nathan Buckley as firefighter Murray Swinton, who was living with MND.
Luke Beveridge surfing the slide standing up.
The double act of Christian Petracca/Angus Brayshaw as Happy Gilmore and caddy.
Gillon McLachlan’s Meatloaf, served with a touch of satire.
Neale’s loyal demon skipper David Neitz as Braveheart.
Ash Barty’s full body Rafiki from Lion King.
Mick Fanning as the body painted Silver Surfer.
The Big Freeze is, and always has been, a time for us to laugh in the face of the Beast. To push MND into the spotlight. To show the world that the fight for a cure is on – and we’re not backing down.
This year the Big Freeze turns a milestone 10 years. Traditionally milestones are an opportunity to celebrate. But for FightMND, this milestone is about recognising that the job is not over, and that more needs to be done.
This fight against the Beast was never going to be won in a sprint. We still have work to do, and we need your help to do it.
Help us reach $3 million by Monday
You (yes you, wearing your Beanie with pride) answered the call 10 years ago. Your support has helped us build a movement that reaches every corner of Australia. You’ve helped us freeze the nation.
Thanks to you, FightMND has been able to invest in a solid research foundation. This investment is enabling MND research in Australia to be competitive and world-leading in driving a pathway to better treatment and a cure for MND.
But our fight is far from over. We’re now at basecamp and we need your help to get to the summit.
Three million can go a long way to funding vital cure and care initiatives. Three million dollars can be used to help develop and maintain National MND Care Guidelines so that people living with MND can access the same care no matter where they live. Or it can be used to fund 3 Discovery projects to help unlock the causes of MND.
Keep doing. Keep fighting. Donate today and help us reach our $3 million target.
At FightMND we often talk about the importance of research in the fight against Motor Neurone Disease (MND). But how does research really make a difference and how does your donation help?
When FightMND was founded in 2014, Australians had very limited or no access to clinical trials. No one knew much about the disease and support for researchers in the MND space was lacking.
Fast forward 10 years and MND research in Australia has come a long way. Our goal is a world without MND. Since 2014, we’ve invested more than $97 million into vital research and care initiatives for those living with MND.
This makes FightMND one of the world’s largest independent funders of MND research.
Thanks to you:
more than 600 Australians have access to clinical trials through FightMND funded projects
we’ve funded 15 clinical trials across 10 sites in Australia and supported 30 drugs in the drug development pipeline
five potential treatments have developed through to clinical trials
two further potential therapies are set to start clinical trials for MND later in 2024.
This support enables MND research in Australia to be competitive and world leading in driving a pathway to a better treatment and a cure for MND. Together we’ve come a long way, but there is still more to do.
Research continues to be our best weapon against the Beast. But this takes time and investment.
This year we’re putting the BIG into Big Freeze. We’re aiming to raise an extra $3 million by Monday 10 June.
But how can $3 million make a difference?
$3 million funds 3 discovery projects to unlock the causes of MND.
$3 million supports the development of 3 new potential treatments for MND.
$3 million funds 2 MND clinical trials to test the safety and efficacy of promising new drugs.
$3 million supports 16 local organisations to provide support, educate and care for Australians affected by MND.
$3 million funds the development and maintenance of National MND Care guidelines so people living with MND can access the same standard of care – no matter where they live in Australia.
$3 million can help us land solid blows against the Beast. But we need your help.
Keep doing. Keep fighting. Help us reach $3 million by Monday
MND is a devastating disease. More than 2,000 Australians currently live with MND. Their average life expectancy from diagnosis is 27 months. Today 2 Australians will die from MND and 2 more will be diagnosed. There is no cure.
This year FightMND is aiming to raise an extra $3 million for vital MND research for Big Freeze 10.
Our fight isn’t over. We need your help to beat the Beast that is MND. Help us reach $3 million by Monday. Donate today.
This year FightMND marks 10 years since the first group of brave celebrities took the icy plunge in the name of MND research. To mark the occasion, for Big Freeze 10 we are aiming to raise an extra $3 million by Monday 10 June.
Ten years ago, many Aussies weren’t aware of this cruel disease and progress towards finding a cure globally, let alone in Australia, was slow and frustrating.
So, Neale, with the late Dr Ian Davis, who was diagnosed with MND at just 33 years of age, and Pat Cunningham, whose beautiful wife Angie was diagnosed around the same time as Neale, decided to bring the fight to the doorstep of this insidious Beast.
From here FightMND and the Big Freeze was born.
We know that funding in innovative and urgent research increases our chances of a scientific breakthrough. For 10 years, FightMND has enabled research in Australia to be competitive and world-leading. Driving a pathway to better treatment and a cure for MND.
We are closer than ever before to finding a cure. We now understand some of the genetic mutations and biological events that may cause MND. This takes us even closer to understanding how best to fight it.
While we’ve managed to land some solid blows against the Beast, there is still a lot left to do in this fight. And we need your help.
We don’t believe that MND is incurable, just underfunded – every dollar raised takes us another step closer to finding a cure. We do this with a sense of urgency – people living with MND cannot wait.
Currently, more than 2,000 Australians are living with MND. Their average life expectancy is 27 months. Today, 2 Australians will die from MND and 2 more will be diagnosed. There is no treatment. There is no cure.
MND is relentless, but so are we. We know how personally devastating this insidious disease is, and we’re united in our determination to fight back. Investing in research continues to be our best weapon against the Beast, but it’s expensive and takes time.
We’re putting the BIG in Big Freeze 10. This year we’re aiming to raise an extra $3 million by Monday. But we need your help!
Every donation takes us another step closer to finding a cure. It means that we can continue to land solid blows against the Beast.
Keep doing. Keep fighting. Donate today and help us beat the Beast that is MND.
Stars unite to make Big Freeze 10 one to remember !
The secret is out! We now know our celebrity slider line-up for Big Freeze 10. Did you miss an announcement. Don’t worry! We have your slider wrap up.
Pat Rafter
Pat Rafter is Australian tennis royalty. Soaring to World No. 1, Pat’s impressive career includes clinching back-to-back US Open titles in 1997 and 1998, winning the Australian Open doubles in 1999 and being a was a double finalist at Wimbledon.
Erin Phillips OAM
Renowned for her leadership on and off the field, Erin Phillips is a legend in not one, but 2 sports! She’s a two-time WNBA champion, FIBA World Champion, and three-time AFLW premiership player. Today you can see her on your screens as part of Channel 7’s AFL broadcasting team.
Nic Naitanui
West Coast Eagles and AFL legend, Nic Naitanui is celebrated for his high-flying marks and dominant ruckwork. During his career, Nic was included in 3 All-Australian selections, won the John Worsfold Medal twice and took out the 2015 AFL Mark of the Year.
James Brayshaw
Former cricketer, James Brayshaw is one of Australia’s key sporting media personalities. He played domestic cricket for Western Australia and South Australia, winning the Sheffield Shield twice—once with each state. Today he is known for his work on Triple M’s Rush Hour as well as commentating cricket and AFL with Channel 7.
Joel Selwood
AFL icon, Joel Selwood is a quadruple premiership player, 6-time All-Australian and 3-time captain of the All-Austrlian team. He captained Geelong between 2012 to 2022, is the club’s games record holder and won the Carji Greeves Medal 3 times. Joel also holds the record for the longest-serving captain in the AFL.
Sally Pearson OAM
Known for her speed and agility, Sally Pearson is one of Australia’s most successful athletes. An Olympic champion, Sally claimed gold in the 100m hurdles at the 2012 London Olympics and silver in the 2008 Beijing Olympics. She is also a two-time World Champion.
Meg Lanning
Meg Lanning is an Australian cricketing icon captaining the Australian Women’s cricket team to multiple world titles, including 2 Cricket World Cups and 5 T20 World Championships. Meg is celebrated for her record-breaking batting, including the most Women’s ODI centuries.
Jack Riewoldt
Rounding out our AFL icons taking the plunge is Jack Riewoldt. This Richmond legend has had an illustrious career with 3 premiership titles, 3 Coleman Medals, and 3 All-Australian selections. Jack is also a 12-time leading goalkicker for Richmond and a 2-time Jack Dyer Medallist.
Mac Horton
An Australian swimming champion, Mack Horton, is celebrated for his Olympic gold in the 400m freestyle at Rio 2016. He’s also a World Championships gold medallist, and a four-time Commonwealth Games gold medallist. Horton’s career boasts seven World Championship medals and a legacy of junior world records
There is less than a week to go until Big Freeze 10!
The countdown is on!
The Big Freeze is a special moment of celebration that pushes MND into the spotlight. It is our signal to the world that the fight for a cure is on! The Big Freeze is also a chance for us to find moments of fun and humour. Together, we choose to laugh in the face of the Beast as we watch our favourite Australian celebrities and sporting personalities slide into the icy pool.
So join us on June 10 at 2pm and see your favourites take the icy plunge all in the name of fighting the Beast that is MND. Then stick around for the King’s Birthday clash as Collingwood take on Melbourne.
If you can’t make it to the game, don’t worry! You can catch the whole thing live on Channel 7.
The Big Freeze is back for its 10th year, with FightMND officially launching Big Freeze 10 in an immersive experience unlike any other, all in the aim to raise vital funds to continue the search for a cure for Motor Neurone Disease (MND).
This year’s launch included a stunning totally immersive experience at THE LUME Melbourne, our official venue partner. The experience brought to life FightMND’s 10 year journey and 9 previous Big Freeze events that have catapulted FightMND into one of the world’s leading funders of MND research.
This year’s message is a simple adaptation of one of Neale’s most famous mantras – “It’s not what you say, it’s what you do!” and Big Freeze 10 is an opportunity for everyone to DO their bit, and let their actions speak louder than words.
FightMND was founded a decade ago by Neale Daniher AO, Dr Ian Davis and Pat Cunningham, with the original Big Freeze taking place on Queen’s Birthday 2015. Sadly, Dr Davis and Pat’s wife Angie Cunningham have since passed away because of the disease. But, the legacy they helped create means the fight goes on and FightMND continues to fund critical research into cure and care for those living with MND.
Big Freeze 10 beanie launch. The Lume South Wharf. Wednesday, May 8, 2024.
FightMND has invested more than $97 million into research and care initiatives thanks to the amazing generosity of the Australian public, partners and state and federal governments. But more is needed and so ‘we go again’ with Big Freeze 10.
Every Beanie sold and donation made brings us one step towards a cure. So, team up for Big Freeze 10 and do your bit. Buy your Beanie today at Coles, Bunnings, selected Coles Express stores and online.
Eddie McGuire Big Freeze 10 beanie launch. Lume South Wharf. Wednesday, May 8, 2024.
Keep doing, keep fighting. When you wear your Beanie with pride, you’re stepping up and fighting for Neale and everyone who has or has had MND. Share your action across social media with the hashtags #DontSayDo #BigFreeze10 and tag us @fightmnd
Big Freeze 10 beanie launch. Lume South Wharf. Wednesday, May 8, 2024.
A huge $1.2 million investment kicks off FightMND’s inaugural ‘Care Research Grants’
In another innovative move to ‘beat the Beast’, FightMND will invest $1.2 million into five Motor Neurone Disease (MND) research projects focused on determining and improving best-practice care for people living with MND.
It’s the next step in the fight for the organisation, and the Care Research Grants initiative will help inform guidelines around providing the most suitable care for people living with MND, as well as MND Care innovations aiming to improve quality of life and extend survival.
Co-founded by AFL legend Neale Daniher AO in 2014, FightMND is now one of the world’s largest independent funders of MND research.
FightMND’s vision is a world without MND, but the road to a cure also requires a continued effort to improve MND Care in Australia and addressing key challenges faced by people living with MND, and their loved ones, during and after a diagnosis.
FightMND Director of Research and Programs, Dr Bec Sheean says this commitment to pioneering investment in MND Care research will build the capacity and capability of the Australian Care research sector and serve as a beacon of hope for Australians living with MND.
“Everyone’s journey with MND is different and we want to ensure that every Australian living with MND gets the best support available when they need it most,” says Dr Sheean.
“With this investment, we’re matching our long-term commitment to finding a cure with a targeted focus on improving care through our support of these new projects from incredible teams of researchers.
“We know that research is the best way to defeat the Beast, but it can also help to tame it. Improving the standards of care will mean that everyone who is diagnosed with MND now, and into the future, can experience the best possible quality of life while fighting this insidious disease,” says Dr Sheean.
The investment from this initiative brings FightMND’s total investment in MND Care to over $11.6 million since 2017.
The Care Research Grants initiative was open to researchers nationwide, with five projects identified as the top-ranked projects for support:
Professor Samar Aoun: Perron Institute Research Chair in Palliative Care, University of Western Australia, WA
Professor David Berlowitz: Clinician Researcher, Department of Physiotherapy at The University of Melbourne and Respiratory Physiotherapist, the Victorian Respiratory Support Service at Austin Health, VIC
Dr Marnie Graco: Implementation Scientist, the Institute for Breathing and Sleep at Austin Health, VIC
Dr Anne Hogden: Senior Lecturer, School of Population Health at UNSW, NSW
Dr Nicole Sheers: Clinician Researcher, the Department of Physiotherapy at The University of Melbourne, and the Institute for Breathing and Sleep at Austin Health, VIC
Professor Samar Aoun, who was awarded the 2023 WA Australian of the Year for her work in palliative care, aims to improve the quality of palliative and end-of-life care service delivery to MND patients by understanding and addressing gaps in current practice across various settings.
“This national collaborative approach will bring together for the first time peak MND and palliative care organisations to work together… It will establish a collective of stakeholders that includes people living with MND and their families, and has the capacity to sustain and nurture future research, workforce education, training for informal carers and service development,” says Prof. Aoun.
Professor David Berlowitz’s project aims to develop and apply artificial intelligence (AI) to the setup and optimisation of Non-Invasive Ventilation (NIV), a mechanical breathing support used by people living with MND, as people’s needs change.
“We believe that this AI development work is unique internationally. We currently do not have NIV devices that can really keep up with the changing respiratory needs of people living with MND. This FightMND grant can help us change that. Good respiratory support does not make MND go away, but when done well, it absolutely helps people, and the families live better with MND,” says Prof. Berlowitz.
For the last two years, Dr Marnie Graco has been leading crucial research on how to improve the uptake of Non-Invasive Ventilation (NIV) to improve quality of life and survival for people living with MND.
“My research has shown that access to NIV is inequitable across Australia, and I have identified many problems that could be addressed to improve NIV access. This new project, funded by FightMND, will allow us to work with the MND community to develop novel, targeted solutions to these problems,” says Dr Graco.
Dr Anne Hogden’s project will co-design up-to-date, high quality Decision Support Tools (DSTs) to empower people living with MND to be able to make informed decisions for their care and quality of life.
“The DSTs were developed with members of the MND community, and we will now improve the range to meet the current needs of people living with MND…Rather than just reading fact sheets, the DSTs assist people to work through the options at their own pace, weigh up the pros and cons, and arrive at a decision,” says Dr Hogden.
Dr Nicole Sheers’ research looks at whether specially developed exercises can help people living with MND maintain their breathing muscle strength to breathe deeper and cough better.
“Breathing muscle weakness, cough and swallow problems have a devastating impact on people affected by MND… This pilot study will tell us whether people living with MND can manage this novel, proactive exercise program, as well as provide some information about the benefits on breathing, cough and swallow function,” says Dr Sheers.
Thanks to the ongoing support of the Australian public and the FightMND Army, FightMND has invested more than $55.9 million into MND research since 2014.
Together we have made real progress towards effective treatments and a cure since the Army answered the call seven years ago.
People living with MND now have more opportunity to participate in research or clinical trials throughout Australia. It is proof of the accelerating progress we are making to end MND.
From clinical trials to drug development projects, it is research like this that will help us find more effective treatments and ultimately a cure.
Below you will find a list of the clinical trials, drug development projects and impact grants we’ve invested in from 2016 – 2022
Clinical trials
Clinical trials test and evaluate promising new treatments to find better ways to prevent, detect or treat MND.
Randomised double-blind placebo-controlled Phase 3 trial of Lithium Carbonate in MND, a sub-study of a Multi-arm, Adaptive, Groupsequential trial NETwork to evaluate drug efficacy in patients with MND (MAGNET).
Professor Matthew Kiernan The University of Sydney, NSW
To accelerate the development of effective therapies for MND, FightMND IMProving and ACcelerating Translation (IMPACT) grants support projects focused on overcoming one or more key barriers preventing the advancement of potential treatments through to clinical trial. Drug Development projects are focused on advancing promising new drugs or therapies through the final stages of testing in preparation for their assessment in clinical trials with MND patients.
Drug Development projects are focused on advancing promising new drugs or therapies through the final stages of testing in preparation for their assessment in clinical trials with MND patients.
The Bill Guest Mid-Career Research Fellowship is named in recognition of the extraordinary contribution of Bill Guest AM, the inaugural Chairman at FightMND.
PROJECT: Clearing TDP-43 pathology for MND therapy
Dr Adam Walker – Bill Guest Mid-Career Research Fellow, The University of Queensland, QLD
The gene that put Australia on the map for MND research
Australia’s contribution to 30th anniversary of the discovery of the association of the SOD1 gene with MND. Written by Professor Anthony Akkari
In 1981 then Dr, now Emeritus Professor Nigel Laing, came to Western Australia to join the proposed Australian Neuromuscular Research Institute (ANRI) (now the Perron institute) to further his research into the neurobiology of motor neurones. In the mid 1980’s, significant advances were being made in the field of genetics. In 1987, with the support of Professor Byron Kakulas, the founding Medical Director of the institute, Professor Laing travelled to Duke University in North Carolina to join the Division of Neurology to study molecular genetics and new techniques to better understand mechanisms in neurodegenerative disease. Professor Laing worked in the laboratory of Professor Teepu Siddique and with the Chief of Neurology at Duke University, the late Professor Allen Roses. Professor Roses was among the first academics to understand the power of molecular genetics in the early 1980’s [1]. Professor Roses and his team were also the first to uncover the association of the gene APOE4 with Alzheimer’s disease risk in 1993 [2]. It was with this esteemed group and Professor Siddique, who had embarked on investigating the genetics of MND, that Professor Laing trained in molecular genetics with among then the best in the field.
In 1988 Professor Laing returned to Perth, WA and established the neurogenetics group at the ANRI, (now the Perron Institute) continuing to apply his training in molecular genetics to the study of MND, as well as to other neuromuscular diseases. Professor Laing afforded me the opportunity to join his group as a laboratory assistant in 1990 and within a short period of time I was completely captivated by the possibilities that molecular genetics methods could bring to understanding neuromuscular diseases. A few years later I enrolled as a PhD candidate in Prof Laing’s laboratory, focussing on the molecular genetics of the congenital myopathy: nemaline myopathy.
SOD1 link to MND discovered.
In the mid 1980’s Dr Laing with Dr Patricia Kailis, uncovered an extended Western and South Australian, multigenerational family with autosomal dominant MND – meaning that a person needs to inherit only one copy of the defective gene from one parent with the disorder to be at risk of the disease. By 1992 Dr Laing in collaboration with Professor Teepu Siddique, was part of the international team mapping the first MND gene. As a student I can remember Professor Laing, laying out the extensive pedigree of this family across the ANRI Board Room table; and explaining the uncertain future for family members facing the consequences of this devastating disease, hidden in their genes. “Here Tony you can see the son who passed away in his 40’s and you can see that his mother who also has MND is still alive in her 80s.” It was that particular conversation, on that day that engaged me as a student, curious and driven to research this inherited MND. Later that same year, my own father was diagnosed with MND; these two events turned me into both a neuromuscular disease researcher and carer for someone with MND. On the 4th of March 1993, Prof Laing was a member of the international team that published the discovery of the first MND gene, SOD1. The Perth family made a major contribution to the discovery, since at that time, linkage analysis was performed in a stepwise fashion, focusing on a region of the genome that was common only to people within that family that had MND. The larger and more extended multigenerational families provide a greater chance of identifying a candidate gene region linked to the inherited disorder. Importantly, within the candidate region lay the SOD1 gene. As the international research team began examining the SOD1 gene, they found the highest probability, known as a Log of the odds score or “LOD” score, occurred with the SOD1 gene. This meant that SOD1 was the most likely candidate for familial MND in the families investigated. The international team then performed subsequent studies on SOD1, looking for disease-causing mutations and found 11 different missense mutations (changes that alter one amino acid in the protein) in 13 different families from around the world, including the West Australian family. On the 4th of March 1993 the first paper describing mutations in a gene that causes MND was reported [3].
The discovery of the SOD1 gene as causative in MND unequivocally opened the field of MND genetics research and since this discovery, over 30 genes have been identified and are being tested on an ongoing basis for mutations in patients with clinical presentation of MND.
Advancing novel therapeutics for neuromuscular diseases: The Perron Institute
Professor Laing was working at the Australian Neuromuscular Research Institute (now the Perron Institute), undertaking molecular characterisations of neuromuscular disease genes. At the same institute, another team headed by Professors Steve Wilton and Sue Fletcher began working on a novel intervention, using a type of treatment called antisense oligonucleotides for the treatment of an untreatable disease called Duchenne Muscular Dystrophy (DMD). Almost 20 years later, in 2016 the first antisense therapeutic for DMD, developed by that very team, received accelerated approval from the FDA for the treatment of some individuals with that disease, providing a mutation-specific therapy for DMD. Since then, two additional therapeutics developed by Professor Fletcher and Wilton, to treat other DMD-causing mutation subgroups, were approved by the FDA.
The SOD1 as a therapeutic target
Upon completing my PhD and post-doctoral research with Prof Laing, I worked on neuromuscular and neurodegenerative diseases in the USA at Duke University with Professor Allen Roses and in the pharmaceutical industry, integrating genetics into drug development. I returned to Perth in 2017 and to my home, the Perron institute, to apply my industry skills to antisense oligonucleotide drug development with an urgency to improve outcomes for patients living with MND.
Shortly after my return, I was privileged to meet Dr Loren Flynn, who trained in the laboratory of Professors Wilton and Fletcher and with over 14 years of experience in these novel antisense therapeutics. Dr Flynn agreed to join the newly established MND genetics and therapeutics group at the Perron Institute and lead the antisense development programs targeting MND disease mechanisms. Dr Flynn’s first interest was to develop a SOD1 targeting program using an antisense therapeutic approach, in collaboration with Professors Wilton, Fletcher and myself. Dr Flynn, with exceptional support from our colleague Professor Bradley Turner (Florey Neuroscience Institute) and Black Swan Pharmaceuticals, an MND antisense drug development company, has advanced this drug for SOD1 MND patients toward the clinic. This collaboration led to the achievement of our first major milestone in taking our therapeutic toward the clinic with a $1M Drug Development grant awarded by our partners FightMND in 2020. This funding has been instrumental in advancing the SOD1 therapeutic. With funding from FightMND as well as industry support, we are moving efficiently toward clinical trials, with additional antisense therapeutics to follow.
The first MND-linked disease gene, SOD1 was discovered through research undertaken in Australia, in collaboration with Australian patients. Now, a promising drug is under development in Australia, by Australian researchers, funded by Australians.
Researchers worldwide continue to make significant progress in understanding MND and the role of genetics in the disease. In April 2023, the FDA approved the first antisense therapy for MND, a SOD1 suppression drug called Tofersen. This is as exciting time for genetic therapies for MND as it paves the way for future discoveries and translation of other novel antisense therapies. We are, as a global community, collaborating, sharing, and learning from each other how to progress toward successful therapies for MND. Researchers from across Australia are working together, looking beyond the horizon, and imagining better ways to understand, diagnose, model and develop therapeutics for this dreadful disease.
THANK YOU
I would like to personally thank MND patients around the world and in Australia FightMND,The Giumelli Family, The Perron Institute and Murdoch University, MNDRIA, MSWA, Black Swan Pharmaceuticals, and our associated investor/philanthropists, racing for MNDi, as well as our collaborators in Australia; Professor Bradley Turner and the Florey Neuroscience Institute, and our international collaborators. We are very privileged to work with a committed community determined to advance disease-modifying therapeutics for MND.
Professor Anthony Akkari is the Co-Lead of the Motor Neuron Disease Genetics and Therapeutics group at the Perron Institute for Neurological and Translational Science, and the Foundation Chair of Industrial Pharmacogenetics at Murdoch University. He is also the Chief Scientific Officer and a Co-Founder of Black Swan Pharmaceuticals, a pharmaceutical company developing antisense therapeutics for MND and Parkinson’s Disease.
References
Snyder A: Allen Roses. Lancet 2016, 388(10057):2232.
Strittmatter WJ, Weisgraber KH, Huang DY, DONG L-M, Salvesen GS, Pericak-Vance M, Schmechel D, Saunders AM, Goldgaber D, Roses AD: Binding of human apolipoprotein E to synthetic amyloid ,Bpeptide: Isoform-specific effects and implications for late-onset Alzheimerdisease. Proc Natl Acad 1993, 90:8098-8102.
Rosen R, Siddique T, Patterson D, Figlewicz D, Sapp P, Hentati A, Donaldson D, Goto J, O’Regan J, Deng HX et al: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362:59-62.
