MND research grants

MND researchers funded by MNDRIA 2017The MND Research Institute of Australia has awarded $3.31 million to support the best MND research commencing in 2018. MNDRIA is indebted to the generosity of donors, bequestors and the State MND Associations who fund this research.

The suite of grants comprises a Betty Laidlaw MND Research Prize, two 
postdoctoral fellowships and 25 grants-in-aid.




 

Projects commencing in 2018

BETTY LAIDLAW MND RESEARCH PRIZE 2018  
A/Prof Justin Yerbury
University of Wollongong, NSW
Betty Laidlaw MND Research Prize awarded to an outstanding
mid-career researcher
Proteome homeostasis dysfunction in axon terminals as a cause of MND
POSTDOCTORAL FELLOWSHIPS (2018 – 2020)  
Dr William Huynh 
Brain and Mind Centre, University of Sydney, NSW
Beryl Bayley MND Postdoctoral Fellowship 2018 – 2020 A multimodal approach combining novel electrophysiological and neuroimaging techniques to explore the pathophysiological mechanisms and patterns of disease spread in MND
Dr Nirma Perera
Florey Institute of Neuroscience and Mental Health, Vic
Bill Gole MND Postdoctoral Fellowship 2018 – 2020 Targeting autophagy protein homeostasis pathway to improve motor neurone health in MND
GRANTS-IN-AID    
Dr Mary-Louise Rogers
Flinders University, SA
Charcot Grant
awarded to the highest ranking grant-in-aid
Pre-clinical validation of growth factors delivered to motor neurons by non-viral gene therapy as a treatment for MND
A/Prof Julie Atkin
Macquarie University, NSW
David Flett Memorial MND Research Grant The role of a novel extracellular isoform of FUS in the pathogenesis of ALS/MND
A/Prof Mark Bellingham
University of Queensland, Qld
MNDRIA Grant-in-aid Linking synaptic hyperexcitability to corticospinal neurone death in an animal model of MND
Prof Roger Chung
Macquarie University, NSW
Superball X MND Research Grant Evaluation of molecular biomarkers for diagnostic and prognostic use in ALS
Dr Dominic Hare
Florey Institute of Neuroscience and Mental Health, Vic
Jenny Simko MND Research
Grant
The elemental signature of MND
Prof Lars Ittner
University of NSW, NSW
Peter Sterne Familial MND Research Grant The role of TDP-43 pathology-associated astrocytosis in MND
A/Prof Anna King
University of Tasmania, Tas
MonSTaR Foundation MND Research Grant  Towards axon protection in ALS
Dr Angela Laird
Macquarie University, NSW
MNDRIA grant-in-aid Inducing autophagy to treat MND
Dr John Lee
University of Queensland, Qld
MNDRIA grant-in-aid Therapeutic testing of the clinical candidate drug PMX205 in a TDP43-based model of MND
Dr Edwin (Chai) Lim
Macquarie University, NSW
Lady (Mary) Fairfax MND Research Grant Investigating cyanobacteria toxin as a causative environmental factor in pathogenesis of ALS
Prof Pamela McCombe
University of Queensland, Qld
Fat Rabbit MND Research Grant Novel biomarkers for MND
Dr Marco Morsch
Macquarie University, NSW
MNDRIA grant-in-aid Microglia regulate axonal distribution and spread of TDP-43 aggregates 
Dr Shyuan Ngo
University of Queensland, Qld
MonSTaR Foundation MND Research Grant Using single cell RNA-sequencing of induced pluripotent stem cell derived neurones to identify novel disease 
A/Prof Peter Noakes
Institute of Molecular Bioscience, University of Queensland, Qld
MND and Me Foundation Research Grant Targeting the molecular basis of muscle weakness in MND
Dr Lezanne Ooi
University of Wollongong, NSW
Benalla Act to d'feet MND Research Grant Astrocytic modulation of neuronal excitability and cell death in MND
Dr Thomas Oxley
University of Melbourne, Vic
Grant McKenzie MND Research Grant Minimally invasive brain-controlled communication and navigation
A/Prof Gail Robinson
University of Queensland, Qld
Mavis Gallienne and Graham Lang MND Victoria Research Grant Longitudinal assessment of behaviour and cognition in ALS through brief Online Carers’ behavioural Questionnaire (OCQ)
Prof Dominic Rowe
Macquarie University, NSW
Dr Paul Brock MND NSW Research Grant Early diagnostic and staging of ALS with high content image cytometry of peripheral cell
A/Prof Justin Rubio
University of Melbourne, Vic
Jenny Simko MND Research Grant A precision genomics approach to dissect the pathogenesis of MND
Dr Frederik Steyn
University of Queensland, Qld
Marie McGrath MND Research Grant Investigating endocrine causes and consequence of loss of appetite in MND patients
Dr Lachlan Thompson
Florey Institute of Neuroscience and Mental Health, Vic
MNDRIA grant-in-aid An optimised immuno-suppression treatment for pre-clinical development of human cell based therapies for MND using rat models
Dr Bradley Turner
Florey Institute of Neuroscience and Mental Health, Vic
MNDRIA grant-in-aid Targeting exosome-mediated propagation of protein misfolding in MND
Prof Anthony White
QIMR Berghofer, Vic
 
Col Bambrick Memorial MND Research Grant Generating patient-derived microglia to investigate neuroinflammation in MND
Dr Kelly Williams
Macquarie University, NSW
Jenny Barr Smith MND Research Grant Seeking genomic factors that modify the progression of MND
A/Prof Trent Woodruff
University of Queensland, Qld
Charles and Shirley Graham MND Research Grant Therapeutic inhibition of the terminal complement pathway as a disease-modifying treatment for MND

Full Descriptions – projects commencing 2018

Betty Laidlaw MND Research Prize

A/Prof Justin Yerbury
University of Wollongong

Proteome homeostasis dysfunction in axon terminals as a cause of MND

Motor neurons are some of the biggest cells in the human body. Some of these neurons can be up to 1 m in length. This provides a unique problem: how does a motor neuron maintain homeostasis at the synapse that is 1 m away? This project aims to characterise how motor neurons solve this unique problem and attempt to link dysfunction in synaptic homeostasis to MND by looking at proteins and genes.

 
Beryl Bayley MND Postdoctoral Fellowship (2018 – 2020)

Dr William Huynh
Brain and Mind Centre, University of Sydney
 
A multimodal approach combining novel electrophysiological and neuroimaging techniques to explore the pathophysiological mechanisms and patterns of disease spread in MND
 
The project aims to determine the mechanisms underlying the development of this devastating neurodegenerative disorder and in particular, the site of disease onset. This project will result in highly significant advances in the understanding of MND pathophysiology, addressing an issue of great importance to human health given its rapidly progressive course. Importantly, the findings will result in fundamental outcomes in the understanding of MND pathogenesis by establishing cortical dysfunction as a primary pathogenic mechanism in MND. The findings will translate rapidly into clinical medicine by transforming the therapeutic approaches in MND, leading to novel therapeutic targets and cell based approaches.
 

Bill Gole MND Postdoctoral Fellowship (2018 – 2020)

Dr Nirma Perera
Florey Institute of Neuroscience and Mental Health     

Targeting autophagy protein homeostasis pathway to improve motor neurone health in MND  
 
Evidence indicates that defects in protein disposal and recycling systems in nerve cells contribute to MND. Strategies that reboot protein disposal are therefore an attractive therapeutic approach. The goal of this project is to investigate the status of protein disposal pathways in MND and, use clinically-approved drugs and compounds derived from plant extracts to stimulate protein disposal pathways in MND patient-derived cell models. Lead compounds will be advanced to testing in MND mice to determine whether this approach improves disease course and pathology. If we see efficacy in these pre-clinical studies, safety of the compounds will accelerate the clinical translation.
 
 
Charcot Grant
 
Dr Mary-Louise Rogers
Flinders University
 
Pre-clinical validation of growth factors delivered to motor neurons by non-viral gene therapy as a treatment for MND 
 
This research aims to develop an MND therapy based on delivering factors specifically to motor neurons that improve the health of the motor neurons in a pre-clinical mouse model of MND. We will also measure outcomes in the MND mice with our urinary biomarker to determine if the treatment is working. This study will inform us of the potential of this unique therapy to be developed as a valid MND treatment. Importantly giving hope to people living with MND and their families that treatments are being pursued.
 

David Flett Memorial MND Research Grant

A/Prof Julie Atkin
Macquarie University

The role of a novel extracellular isoform of FUS in the pathogenesis of ALS/MND
 
It is well established that after initial symptom onset, MND spreads contiguously throughout the body, and that abnormal proteins are responsible for this.  However, most proteins associated with MND are not normally found outside the cell, so how this occurs is not clear.  We have recently discovered a new protein linked to MND which is unique amongst MND-associated proteins because it exists outside the cell, implying it is quite different to the other proteins. Here we will examine the normal functions of this protein, how they become abnormal in disease, and if this protein is responsible for spreading MND.
 

MNDRIA Grant-in-aid

A/Prof Mark Bellingham
University of Queensland

Linking synaptic hyperexcitability to corticospinal neuron death in an animal model of motor neuron disease
 
Corticospinal neurons are vital for voluntary movement, but why these neurons die in MND is unknown.  MND models show increased synaptic activity during early disease, together with altered shape of corticospinal neurons and the number of synaptic connections received by these cells.  Drugs acting on TrkB receptors can reduce corticospinal neuron synaptic activity in these models.  We will test whether TrkB receptor blockers can delay or prevent corticospinal neuron death.  This research will provide an important insight into the causes of corticospinal neuron death in MND, and will establish whether TrkB blockers could be a novel therapy for MND.
 

Superball X MND Research Grant

Prof Roger Chung
Macquarie University

Evaluation of molecular biomarkers for diagnostic and prognostic use in ALS
 
This project will use next-generation proteomic screening technology, to simultaneously collect information on the levels of about 1000 proteins within a blood sample collected from MND patients.  This will identify a panel of proteins that are different between MND patients and healthy controls, which we believe may lead to the development of a clinical diagnostic and prognostic tool that can aid in early detection of the disease and a method for evaluating the rate of disease progression.
 

Jenny Simko MND Research Grant

Dr Dominic Hare
Florey Institute of Neuroscience and Mental Health

The elemental signature of motor neurone disease

All life is a mixture of chemical elements. Everything cells do result from precisely balanced ratios and reactions of nearly 30 essential elements. Disease must also start as chemical reactions and disturbances of this delicate equilibrium. Using advanced technology, minuscule shifts in element ratios can be mapped and measured to determine how, when and where chemical reactions that cause MND happen. Capturing the unique ‘elemental signature’ of MND will both help understand how essential elements like copper, iron and zinc are involved in MND, and provide a new laboratory test that may detect MND years earlier than currently possible.
 

Peter Sterne Familial MND Research Grant

Prof Lars Ittner
University of NSW

The role of TDP-43 pathology-associated astrocytosis in motor neuron disease

The brain harbors different cell types, which together orchestrate its functions. Amongst those cells are astrocytes. In MND, these astrocytes become activated as part of the inflammation of the nervous system. However, little is known about astrocytes contribute to the disease. This project will use latest genetic tools combined with established MND mouse models to decipher the role of astrocyte activation in the disease. Importantly, we will test whether controlling astrocyte activation is a new approach to treat MND. Findings from this project will significantly advance our understanding of MND and may build the basis for future therapies.
 
 
MonSTaR Foundation MND Research Grant
 
A/Prof Anna King
University of Tasmania
 
Towards axon protection in ALS
 
Nerve cells communicate with each other and their targets, such as muscle, via long processes called axons. In motor neuron disease these nerve cell processes degenerate and are lost, resulting in a loss of movement. Several mechanisms or axon degeneration have been recently identified, but we don’t know which of these mechanisms is involved in motor neuron disease. In this project, we will use two models to determine which mechanisms of axon degeneration are involved in nerve process loss in motor neuron disease. This will allow us to determine which molecules to target for therapeutic intervention.
 
 
MNDRIA Grant-in-aid
 
Dr Angela Laird
Macquarie University
 
Inducing autophagy to treat motor neuron disease
 
The protein quality control pathway, autophagy, has been found to be impaired in many studies of motor neuron disease (MND). This study aims to identify drugs that can increase the function of this pathway to aid removal of toxic MND-causing proteins from neurons. Increasing the removal of these proteins will prevent formation of protein aggregates, which are one of the things known to contribute to the death of motor neurons in MND. We will perform drug testing on both cell culture and zebrafish models of MND to aid identification of drugs that can increase this protein removal and prevent signs of MND. 
 
 
MNDRIA Grant-in-aid

Dr John Lee
University of Queensland

Therapeutic testing of the clinical candidate drug PMX205 in a TDP43-based model of MND 

Immune system is a collection of processes in the body that serve to protect against disease. In MND, overactivation of the immune system leads to increased levels of C5aR1, which may lead to being harmful for the brain and spinal cord. This study will focus on validating whether blocking C5aR1 using FDA approved drug PMX205, can save nerve cells from death. This will help us determine whether targeting C5aR1 is a viable therapeutic option for slowing MND in humans. Thus, knowledge gained from this project has the potential to pave the way for future clinical trials of PMX205 in MND. 
 

Lady (Mary) Fairfax MND Research Grant

Dr Edwin (Chai) Lim
Macquarie University
 
Investigating cyanobacteria toxin as a causative environmental factor in pathogenesis of ALS
 
Increasing global temperatures have led to an increase in blue green algae blooms, while the toxic effects of its toxin BMAA in causing MND is still unclear. We investigate how BMAA kills neurons and how it may spread from one cell to another. This will allow us to understand the mechanisms in BMAA that cause loss of function, and lead to the development of target therapy that can retain function, and stop the spread of BMAA. 
 

Fat Rabbit MND Research Grant

Prof Pamela McCombe
University of Queensland
 
Novel biomarkers for motor neurone disease
 
There is a need for biomarkers that can measure the progression of Motor Neurone Disease, and that can be used as an endpoint in clinical trials. We have recently used mass spectroscopy to study the blood of patients with MND and have identified some new potential protein biomarkers, which show different levels in MND patients compared to controls. This project will investigate these proteins in a larger number of patients, and determine whether the levels are related to disease severity and progression.
 
 
MNDRIA Grant-in-aid
Dr Marco Morsch
Macquarie University

Microglia regulate axonal distribution and spread of TDP-43 aggregates 

Accumulation of proteins is now recognised as a common pathological hallmark of many neurodegenerative diseases. Cell-culture studies show emerging evidence for the spread of ALS aggregates and clinical observations describe a focal onset and subsequent spread of muscle-paralysis to other regions over time. 
This project will investigate this potential pathogenic mechanism using a living animal. Our unparalleled platform allows us to visualise and quantify the redistribution, release, and spread of these proteins. 
The outcomes will be the first visualisation of ALS-protein-transfer in a living animal, and provide compelling real-time evaluation of whether this represents a potential pathogenic mechanism in ALS.
 

MonSTaR Foundation MND Research Grant

Dr Shyuan Ngo
University of Queensland

Using single cell RNA-sequencing of induced pluripotent stem cell derived neurones to identify novel disease mechanisms
 
Our studies of energy balance in motor neurone disease (MND) show that people with MND use more energy than expected. We have new data to show that this increase in energy use might be linked to the loss of nerve cells in the spinal cord, and that it can affect patient outcome. We now aim to make nerve cells from MND patients to investigate gene signatures that might explain why nerve cells are susceptible to death and how this relates to energy balance. Insights will help to develop therapies to save nerve cells from death. 
 

MND and Me Foundation Research Grant

A/Prof Peter Noakes
Institute of Molecular Bioscience, University of Queensland
 
Targeting the molecular basis of muscle weakness in motor neuron disease
 
Progressive muscle weakness occurs in MND.  This is caused by motor nerve endings withdrawing from muscle cells. We will investigate the mechanism that underlies the loss of nerve-muscle connections. In particular, why muscles from some MND patients respond poorly to agrin, a protein released from the motor nerve that is needed to maintain such connections We will then be testing several treatments on muscle cells from MND patients to see if we can improve their response to agrin to determine if such treatment can slow the loss of motor nerve muscle connections, thereby improving muscle strength and movement. 
 

Benalla Act to d'feet MND Research Grant

Lezanne Ooi
University of Wollongong

Astrocytic modulation of neuronal excitability and cell death in motor neurone disease
 
This project aims to understand why motor neurons are specifically vulnerable in MND. The electrical properties of motor neurons change even before symptom onset. The reasons behind this are unknown but since this is common to familial and sporadic MND, these mechanisms are likely important in disease onset and progression. We will investigate how and why the properties of motor neurons change before, during and after disease onset and the role of astrocytes, cells that normally perform a supportive role for neurons, in contributing to these changes and neuronal death in MND. Identifying these pathways may lead to a novel treatment avenue.
 

Grant McKenzie MND Research Grant

Dr Thomas Oxley
University of Melbourne

Minimally invasive brain-controlled communication and navigation
 
MND has the devastating consequence of limiting people’s independence and communication. Fortunately, for many, the portion of the brain responsible for movement remains intact and enables is to utilize signals to control assistive devices. However, due to invasive surgical methods, translation of existing technology has not progressed to clinical application. Our technology (STENTRODEtm) is the only existing method of extracting brain signals from within a blood vessel, which mitigates the risks associated with open-brain surgery. Having demonstrated that a Stentrode can record clinically relevant brain signals we now aim to translate this into early feasibility in a world-first human trial.
 

Mavis Gallienne and Graham Lang MND Victoria Research Grant

A/Prof Gail Robinson
University of Queensland
 
Longitudinal assessment of behaviour and cognition in ALS through brief Online Carers’ behavioural Questionnaire (OCQ)
 
Changes in behaviour and cognitive decline are now recognised as part of the disease progression for some, but not all, ALS patients, with subtle changes, likely noticed by carers in their daily interactions. We propose to develop and validate the Carers’ Behavioural Screen as an online questionnaire. In the online format, carers can be invited to provide regular assessment of the cognitive/behavioural profile of the ALS patients in their care, even when participation in research clinics is difficult. This online screening tool could prove useful in both research and clinical care.
 

Dr Paul Brock MND NSW Research Grant 

Prof Dominic Rowe
Macquarie University
Early diagnostic and staging of amyotrophic lateral sclerosis with high content image cytometry of peripheral cells
 
This project uses a novel method of analyzing living peripheral cells from patients with Motor Neurone Disease and control subjects.  It is able to detect the activation state of cells in the blood called monocytes that are known to be abnormal in MND. It should be able to detect the effect of new therapies that have the ability to slow the progression of MND.
 

Jenny Simko MND Research Grant

A/Prof Justin Rubio 
University of Melbourne
 
A precision genomics approach to dissect the pathogenesis of MND
 
Genetic research has revealed important insight into the causes of MND, but there is still much to learn. We propose that the DNA genome of surviving neural cells in people who died from MND contains “hidden” information about the causes and progression of disease. To “unlock” this genomic information we have developed the means to isolate and interrogate the entire genome of single neurons from brain tissue donated for research. We expect that this research will improve understanding of MND biology and ultimately lead to the identification of new drug targets. 
 

Marie McGrath MND Research Grant

Dr Frederik Steyn
University of Queensland

Investigating endocrine causes and consequence of loss of appetite in MND patients
 
The inability for the body to sense and respond to changes in energy needs is of clinical concern in MND, as this may lead to energy deficit that contributes to weight loss and worsening disease outcome. In this project, we will determine how mechanisms that regulate appetite in MND are impaired. Knowledge gained from our observations will improve our understanding of widespread changes in the body and brain that occur in MND, while improving our capacity to direct therapies to improve the lives of those already living with MND.
 

MNDRIA Grant-in-aid

Dr Lachlan Thompson
Florey Institute of Neuroscience and Mental Health

An optimised immuno-suppression treatment for pre-clinical development of human cell based therapies for MND using rat models
 
Unlike other parts of the body, the nervous system has a very poor capacity to repair itself. This means that damage, for example through the neurodegenerative process that occurs in motor neuron disease (MND), is irreversible and has permanent functional consequences for the patient. Most of the experimental therapies under development are protective strategies that aim to stop or slow the on-going disease process but do not in any way address the damage that has already occurred. This project aims to use human stem cells to generate new neurons that can one day replace those lost to the disease.
 

MNDRIA Grant-in-aid

Dr Bradley Turner
Florey Institute of Neuroscience and Mental Health

Targeting exosome-mediated propagation of protein misfolding in MND
 
One characteristic feature of MND is the progressive and systematic spread of symptoms from one region of the body to another, suggesting anatomical spread of the underlying motor neuron pathology. We recently identified a mechanism for disease protein spread in MND carried out by microscopic secretory particles called exosomes.  In this project, we will investigate whether targeting exosomes using a drug approach can slow the disease course, motor neuron loss and protein pathology in MND mice.  If supported, our study will encourage future targeting of the exosome pathway to interfere with disease protein spread to potentially slow progression of MND.
 
 
Col Bambrick Memorial MND Research Grant
 
A/Prof Anthony White
QIMR Berghofer
 
Generating patient-derived microglia to investigate neuroinflammation in MND
 
Our project will build important new tools for understanding the role of the immune system in MND. Inflammatory responses by resident brain and spinal cord immune cells (microglia) have an important role in MND and are key targets for therapy. Until now, research on microglia has been largely restricted to cells from animal origin. We now have new techniques to generate microglia directly from MND patients to help understand the disease and test patient-specific drugs to modulate the immune response in the brain and spinal cord. This project will provide a new approach to investigating and treating inflammation in MND.
 

Jenny Barr Smith MND Research Grant

Dr Kelly Williams
Macquarie University

Seeking genomic factors that modify the progression of MND
 
The only known causes of motor neuron disease are gene mutations, which account for two-thirds of hereditary MND cases in Australia. Patients who possess identical genetic mutations often exhibit different clinical characteristics. We will analyse genome sequence data from a large, well-characterised Australian MND patient cohort with known gene defects, but high variation in age of onset, progression rates and disease duration. We aim to identify new genetic modifiers that delay onset or slow progression of ALS, showing ‘resilience’ to disease. These modifiers will implicate biologically relevant functional pathways that influence disease manifestation, as potential prognostic tools and targets for therapeutic development. 


Charles and Shirley Graham MND Research Grant

A/Prof Trent Woodruff
University of Queensland

Therapeutic inhibition of the terminal complement pathway as a disease-modifying treatment for MND

Activation of the immune system contributes to MND progression. We have been studying a group of immune proteins called the complement system. We have shown that blocking a specific component of complement can slow MND in mice. This grant aims to extend from this, by using an existing drug being developed for blood diseases, to block multiple components activities of complement. We hope that by repurposing this drug for MND, we can more effectively slow disease progression. If successful, we will be able to translate our findings more rapidly to human clinical trials.
 
 
ONGOING Research Projects

Beryl Bayley MND Postdoctoral Fellowship (2017 – 2019)

Dr Emma Devenney 
Brain and Mind Centre, University of Sydney, NSW
 
Behaviour, cognition, eye-movements and psychiatric disease in C9orf72 MND and FTD; a cross modal-approach to facilitate early and accurate diagnosis

Firstly this project will measure eye movements in patients with MND, FTD, and the C9orf72 expansion, and also asymptomatic carriers of the expansion. This will identify the exact nature of eye-movement abnormalities in these conditions and determine whether they are a feature of presymptomatic disease. Secondly, this study will address the issue of psychiatric symptoms in the same disease cohort by determining the underlying causes of these symptoms, which will inform future management strategies.


Bill Gole MND Postdoctoral Fellowship (2017 – 2019)

Jennifer Fifita
Macquarie University, NSW

Investigating the molecular and pathological origins of amyotrophic lateral sclerosis
 
This project aims to use next-generation sequencing technologies to identify gene mutations that cause ALS, or may increase the risk of developing ALS, in patients with both familial and sporadic ALS. To understand how these new mutations cause disease, each will be studied in neuronal cell culture models, as well as in a zebrafish animal model. The identification of new ALS genes adds to DNA diagnostic testing, and provides a greater understanding of the underlying cause of ALS. New genes can be used to develop new cell and animal models, which will greatly assist in the testing and development of novel treatments for this devastating disease.


Betty Laidlaw MND Research Grant (2016 – 2018)

Dr Peter Crouch
University of Melbourne

Copper malfunction in motor neurone disease: a therapeutic target for sporadic MND

We have developed the compound copper-ATSM as a treatment option for MND. Based on our outcomes from testing in animal models of MND and via our partnership with Collaborative Medicinal Development, Phase I clinical testing of the drug (for safety and tolerability) in Australian MND patients is due to start in 2016. As the initial stages of clinical testing commence, this research aims to obtain a better understanding of which drug-related processes fail in MND and when they fail relative to symptom progression. This work will generate the new information that can support further progression of copper-ATSM towards the efficacy stages of clinical testing.
 

Beryl Bayley MND Postdoctoral Fellowship (2016 – 2018)

Dr Michelle Farrar
University of New South Wales

Motor neurone diseases in children and young people – understanding pathophysiology and developing treatment approaches

Motor neurone diseases in children and young people are a devastating group of disorders producing significant disability and mortality. This project will combine clinical, functional and specialised nerve assessment strategies to provide a comprehensive evaluation of pathogenesis and progression of MND in children and young people with the aim to develop and validate novel sensitive outcome measures for use in the clinical setting and trials. In addition, the project aims to accelerate clinical translation of potential therapies by further developing clinical trial readiness and assessment of health outcomes for children and young people with MND.
 

MNDRIA Postdoctoral Fellowship (2016 – 2018)

Dr John Lee
The University of Queensland

The role of C3aR signalling in slowing down the disease progression of MND

In MND, activation of the immune system leads to increased levels of C3aR. Although C3aR is primarily involved in immunity, it also affects energy balance and the production of nutritional factors known to support the nerve cells in the brain and spinal cord. This study will use mouse models of MND and MND patients to investigate whether C3aR can provide energy and support to save nerve cells from death. By identifying a protective role for C3aR in MND, we can determine whether targeting C3aR is a viable therapeutic option for slowing MND in humans.
 

MNDRIA PhD Top-up Grant 2016 - 2018

Dr Thanuja Dharmadasa
Brain and Mind Centre, University of Sydney, NSW

Motor Neurone Disease: site of origin and patterns of disease spread

Motor neurone disorders (MND) are one of the most rapidly-progressive age-related diseases known to man. However, the poorly understood disease factors limit the development of adequate treatments. This clinical study will use examination findings, nerve studies, brain imaging and genetic testing totry and differentiate the various subtypes of MND, develop markers of disease, and to identify the site of onset and the spread of disease. The goal of this clinical research will be to enable an early diagnosis, improve patient assessment and management, and provide new knowledge regarding nerve function in these patients. This overall insight will hopefully be able to advance the development of new treatment strategies.


MNDRIA PhD Top-up Grant 2016 - 2018

Emily McCann
Macquarie University, NSW

Investigating the genetic and epigenetic basis of amyotrophic lateral sclerosis

There is currently no cure or effective treatment for MND, and genetic mutations are the only proven cause. Approximately 10% of MND is hereditary, and only two thirds of these cases are accounted for by known genetic mutations, leaving the cause of most MND unsolved. We aim to uncover further genetic variants and patterns of DNA chemical modifiers (epigenetic markers) that underlie MND by interrogating samples from MND patients and their families. Identifying such signatures of MND will provide greater insight into the molecular physiological processes underlying disease. As such, our research has great potential to identify targets for future MND therapeutics, particularly epigenetic markers that are reversible and targeted by many currently available drugs.The elemental signature of motor neurone disease
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