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CURRENT RESEARCH PROJECTS

The Rare Disease Genetics & Functional Genomics team is made up of dedicated medical scientists, genetic counsellors, and clinicians who are passionate about advancing knowledge and increasing diagnosis for people living with rare diseases. The group is committed to building exceptional researchers to improve the lives of those living with rare diseases.

Our focus is to explore the genetics underlying rare, mostly neuromuscular and neurodegenerative diseases using a range of genomic and functional approaches.

We are also committed to exploring targeted therapies for neuromuscular diseases, in particular congenital myopathies.

Current projects include:

Rare and Neuromuscular Diseases

More than 50% of patients with a rare disease remain without a genetic diagnosis after clinical testing. Our research focuses on finding the causative genes in these unsolved patients and families. We focus on neuromuscular and neurodegenerative diseases. These diseases range from prenatal-onset conditions including fetal akinesias and arthrogryposis through to congenital myopathies, adult-onset muscular dystrophies and myopathies, neuropathies, dystonias, spastic paraplegias and late-onset ataxias. We also work on patients with other rare diseases where diagnostic testing options have been exhausted.

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Improved Diagnostics

Working closely with the Neurogenetics Unit, Diagnostic Genomics to bring research approaches and technologies into diagnostics.

Each novel disease gene identified in the research group is included in targeted gene panels. We assist with gene curation so that the panels are as current as possible.

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Genetics of Recurrent Pregnancy Loss

Every day in Australia, 282 women experience a miscarriage. Conservatively, 2% of couples experience recurrent miscarriage and at least 10% of these have an underlying genetic cause. In this project we will explore the utility of OGM in the genetic diagnosis of recurrent miscarriage. There is a huge unmet need to improve diagnostic genomics in this setting;

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Rare Disease Collective

The Rare Disease Collective (RD Collective) is driven by a strong team of early- and mid-career researchers who work across a range of genomic fields including rare disease, genomic technologies and bioinformatics. This program is funded by a highly competitive MRFF EMCR-led Grant (APP2023357).

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Understanding IBM

An Inclusion Body Myositis (IBM) diagnosis involves a thorough clinical and muscle pathology assessment. Currently, no treatments improve muscle strength or alter the disease progression, leaving patients with symptomatic treatment at best.

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Disease Modeling and Therapies

There are very few treatments available for individuals with rare genetic muscle diseases. To address this unmet need, our team is working to design and test new treatments for congenital myopathies caused by pathogenic variants in a subset of muscle genes. We are also developing new patient-derived cell models, and refining methods for screening the effectiveness of these new treatments at the pre-clinical level.

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CURRENT STUDENT PROJECTS

Student projects (both Honours and PhD) are available in any of the research projects within the Group. Interested students are encouraged to contact Prof Ravenscroft to discuss their research interests and career aspirations.

There will be the opportunity to work collaboratively with world-leading diagnosticians, clinicians and researchers locally, nationally and internationally.

Students within the group will have the opportunity to travel to present their work at conferences and learn essential techniques from other centres, as required.