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CURRENT RESEARCH PROJECTS

Project

Disease gene discovery in neuromuscular disease

Project

Disease gene discovery in neuromuscular disease

Project Outline

This project is focused on identifying and understanding the causes of rare genetic diseases – in particular myopathies, neuropathies and diseases that present in utero (e.g. arthrogryposis and fetal akinesia). In addition, The Team is exploring the utility of informatic tools for the detection of short tandem repeat expansions, a class of variants poorly detected in short read sequencing data.
In addition, The Group, together with Prof Forrest (Group Leader, Systems Biology and Genomics) is employing single-cell and single-nuclei RNA-seq to identify and characterise skeletal muscle genes of unknown function. The aim of this research is to improve our ability prioritise variants in relatively poorly characterised genes.

Research area
Disease genetics

Laboratory
Rare disease genetics and functional genomics

Contact
Dr Gina Ravenscroft
[email protected]

Project

The skeletal muscle regulome

Project

The skeletal muscle regulome

Project Outline

When interrogating whole genome sequencing data, our analysis is usually confined to the ~2% of the coding genome as we are not able to interpret the likely pathogenicity of the vast majority of variants arising in the non-coding genome. Collaborating with Prof Forrest (Group Leader, Systems Biology and Genomics) and PathWest, The Group is exploring the contribution of the non-coding genome to Mendelian skeletal muscle diseases.

Research area
Disease genetics

Laboratory
Rare disease genetics and functional genomics

Contact
Dr Gina Ravenscroft
[email protected]

Project

Transcriptomic profiling in muscle disease

Project

Transcriptomic profiling in muscle disease

Project Outline

Using single nuclei RNA-seq we will generate transcriptomic fingerprints of different subsets of muscle diseases, with the aim of identifying pathways common to disease. This will inform our understanding of the disease pathobiology and may facilitate design of treatments.

Research area
Disease genetics

Laboratory
Rare disease genetics and functional genomics

Contact
Dr Gina Ravenscroft
[email protected]

Project

Functional genomics

Project

Functional genomics

Project Outline

A major challenge in genetic diagnostics and gene discovery is the need to prove the candidate variant is pathogenic. The Group uses a range of techniques to explore the pathogenicity of candidate genes and variants and also collaborates widely to ensure the appropriate investigations are performed in a timely manner. Biobanking of patient cell-lines, biopsy material and generation of patient-derived iPSCs is critical to functional genomic investigations.

Research area
Disease genetics

Laboratory
Rare disease genetics and functional genomics

Contact
Dr Gina Ravenscroft
[email protected]

Project

Recurrent miscarriage

Project

Recurrent miscarriage

Project Outline

Around 2-5% of couples will experience recurrent miscarriage. This is incredibly distressing for the affected couples. Recently it has been shown that low-coverage whole genome sequencing can identify, more reliably, chromosomal abnormalities causative of recurrent miscarriage. The Group is exploring the utility of this approach in Western Australia and is collaborating with Prof Roger Hart (UWA).

Research area
Disease genetics

Laboratory
Rare disease genetics and functional genomics

Contact
Dr Gina Ravenscroft
[email protected]

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 Dr 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.