HELP FOR YOU

Research & trials

In line with our strategic plan, we remain committed to supporting relevant research into muscular dystrophy and neuromuscular conditions and we continue to create a collaborative environment where research advances that take place both locally and globally will positively influence the lives of those in our community.

As a subcommittee of the Board of Muscular Dystrophy WA, The Research Advisory Committee (RAC) provides advice, supplementary information and recommendations in relation to strategic research initiatives, research scholarship candidates and their performances, and liaises with appropriate research services, foundations, education institutes and hospitals where relevant to us.

The RAC provides leadership and advice on mechanisms to improve monitoring, bench-marking and reporting of MDWA scholarship holders’ research to ensure we continue to allocate funds appropriately.

MDWA aim to maximise the impact of the limited funds available by identifying research areas that will promise to make the greatest scientific advances and have the most profound quality of life outcomes for our families.

We will always ensure that our research strategy aligns to initiatives that have demonstrated advances across the globe and we will always endeavour to collaborate across multidisciplinary environments.

To ensure we continue our focus in an applied manner, we have developed a formalised Research Strategy which defines the priorities for our community and demonstrates our commitment to achieving these outcomes for you.  

We will always embrace the successes of the last 50 years and work tirelessly to generate opportunities in the future.

If you’d like to know more, please get in touch.

Below is a list of research projects we support.

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The Harold & Sylvia Rowell PhD Scholarship

This scholarship was made possible through a very generous bequest from the estates of Harold & Sylvia Rowell in 2013. 

Following consultation with the Rowell family and in accordance with our 2012-2015 Strategic Plan, these funds were allocated to annual research scholarships, hence known as the Harold & Sylvia Rowell Scholarship.

Funding has been made available annually towards research relevant to people with muscular dystrophy and directed towards the areas of clinical, epidemiological, basic science, consumer, social or community-based outcomes.

February 2014 saw the inaugural Harold & Sylvia Rowell PhD Scholarship awarded to physiotherapist Vivienne Travlos. 

Vivienne is a lecturer within the School of Physiotherapy at University of Notre Dame Australia (UNDA) and a clinician at Perth Children’s Hospital.  The study undertaken by Vivienne is a collaborative effort between researchers, patient organisations and clinicians across the country.

Vivienne’s first paper (A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders) was published in NeuroRehabilitation, an international journal in 2016.

Vivienne followed this up with her second paper (Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?) published in January 2019.

September 2016 saw the second Harold & Sylvia Rowell PhD Scholarship awarded to Li Dunhui, a PhD student at Murdoch University who is undertaking the study of mapping functional dystrophy based on exon structure.

Li joined the team of Professors Sue Fletcher and Steve Wilton at the Centre for Comparative Genomics. Li previously completed a Bachelor of Medicine (2008-2013) at the Binzhou Medical College and a Master of Medicine with a major in neurology at Shanghai Jiao Tong University School of Medicine (2013-2016).

His PhD research is now looking at modifying dystrophin gene expression with the aim of making different variants. The goal is to see if some of the variants are functional and if so, then applying their exon skipping technology to cure Duchenne causing mutations. Li has presented his work as posters at the AGCTS conference in Sydney (May 2017) and CBSM conference in Perth (August 2017).

TEAM Spencer-Muscular Dystrophy WA PhD Scholarship for SMA Research

This scholarship would not be possible without the fundraising efforts of TEAM Spencer founders Rick and Ruth Steven, who were so ably and selflessly assisted by AME Offshore Solutions. 

The fundraising group “TEAM Spencer” was created by Rick and Ruth, in honour of their son Spencer, who was born in March 2006 with SMA and who sadly passed away just seven months later.  Since then TEAM Spencer have dedicated themselves to doing whatever it takes to find a cure for Spinal Muscular Atrophy (SMA).

In April 2012, the first of these scholarships was awarded to UWA PhD student Loren Price. 

Loren is based at the Centre for Comparative Genomics (CCG) at Murdoch University and has completed her thesis “Applications of antisense oligonucleotides (AO) in splice intervention for treating inherited diseases”.

Loren’s project has looked at using antisense oligonucleotides (AOs) targeting exon 7 of the SMA causing survival motor neuron gene (SMN2). By binding AOs to particular motifs of the gene message, it can prevent exon 7 being excluded from the transcript, and therefore produce increased levels of function.

It is pleasing to know that following the research developments and investigation undertaken by Loren, this investigation has been expanded and continued at CCG and in 2016 we extended our support through another scholarship to Ianthe Pitout.

Ianthe continues the investigation of the application of antisense oligomers to modifiers of the SMN2 gene in order to reduce the severity of SMA.

During this time, we also provided another scholarship for SMA research to Dr Adelaide Withers, a Paediatric Respiratory and Sleep Physician at Perth Childrens Hospital.

Dr Withers research at Curtin University and through the Telethon Kids Institute aims to identify and accurately predict the onset of hypoventilation through the development of effective clinical predictors of the disease progression and in particular respiratory dysfunction.

NUTRITION PROJECT AT PERTH CHILDREN’S HOSPITAL

Diet and nutrition is other key area we are committed to supporting, with a two year project underway until July 2020.

Previously, Western Australian children with neuromuscular conditions did not receive routine assessment or intervention to support their diet and nutritional needs.

These needs can be complex and varied. Children who are immobile and/or require steroids are prone to excessive weight gain, whereas children with swallowing and self-feeding difficulties are at risk of malnutrition. Low bone density is common in children with neuromuscular disorders, which also influences vitamin D and calcium requirements.

Thanks to funding from us, Perth Children’s Hospital (PCH) Senior Dietitian Annie Robertson will provide nutritional support to families through the neuromuscular clinic, for the next 2 years.

This project aims to develop and implement disease specific dietetic care pathways for the neuromuscular patients at PCH, as well as targeted nutrition education resources for patients and families. It also aims to set up a database for collation of nutritional information, to facilitate future research on the nutritional status of children with neuromuscular disorders.