Dr Gina Ravenscroft is a Senior Research Fellow within the Neurogenetic Diseases Group at the Harry Perkins Institute and UWA. She is currently supported by an NHMCR Career Development Fellowship.

She completed her undergraduate degree at UWA, majoring in Physiology and Pharmacology. In 2009 she completed her PhD project characterising mouse models of skeletal muscle alpha-actin disease, supervised by Prof Nigel Laing and Dr Kristen Nowak at WAIMR and Dr Tony Bakker in the Department of Physiology.

Her research focus is on early-onset, severe genetic diseases with a particular focus on neurogenetic diseases. Dr Ravenscroft’s skillset and training ranging from genetics to muscle physiology gives her unique perspectives that inform the interpretation of genetic variants and design of the critical experiments to investigate the functional genomics of candidate disease-causing variants and genes.

She has carved a niche within the area of severe neurogenetic disorders and is recognised as a world expert in the genetics of these disorders. In ExpertScape, Dr Ravenscroft is listed as the top expert in Australia for arthrogryposis, congenital myopathy and nemaline myopathy and within the top 10 experts internationally for each of these disorders. She has led or contributed to the discovery of 10 novel human disease genes (seven of which occur in babies before or at birth), with another >10 candidate novel disease genes under investigation. Discovery and characterisation of myoglobinopathy (Nat Comms) was highlighted as one of the Top 10 Neuromuscular Disease discoveries of 2019. Her research has immediate clinical translation. It provides much needed answers to families affected by devastating early-onset genetic diseases.

She is a committed advocate for women in science and is Secretary of the National Association of Research Fellows. Dr Ravenscroft is also passionate about mentoring of early and mid-career researchers.

Gene discovery and pathobiology

Dr Ravenscroft’s research program 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). Her research includes exome, genome and RNA sequencing, single cell and single nuclei RNA-seq and assays to evaluate the functional consequences of identified variants, including protein and cell-based studies. Dr Ravenscroft is also involved in the evaluation of novel bioinformatic tools for the detection of short tandem repeat expansions, a class of variants poorly detected in sequencing data. She collaborates widely to evaluate disease mechanisms, including with experts in zebrafish (Rob Bryson-Richardson, Monash University) and mouse models of neuromuscular diseases (Eric Olson, UT Southwestern Medical Centre, Texas and Greg Cox, Jackson Laboratory, USA).

Improved molecular diagnosis

Through long-standing collaborations with the Department of Diagnostic Genomics at PathWest, the Australasian Referral Centre for the genetic diagnosis of neuromuscular diseases, she contributes towards to development, optimisation and implementation of new diagnostic tools. These include the design of bespoke comprehensive gene panels and RNA-sequencing. 

Development of therapies for myopathies

Dr Ravenscroft leads a small team working on therapies for neuromuscular diseases, including pre-clinical models of skeletal muscle alpha-actin (ACTA1) myopathy. This therapies research is an extension of the program of worh that she conducted during her PhD project and early postdoctoral years, which demonstrated that cardiac actin upregulation could ameliorate both dominant and recessive skeletal muscle actin (ACTA1) diseases in preclinical mouse models. She is passionate about developing therapies for ACTA1 diseases that can be translated to the clinic. This research currently involves generation and characterisation of ACTA1 patient-derived iPSC, and CRISPR-mediated gene editing, dominant allele deletion, genetic compensation and evaluating small molecules. 

Reproductive carrier screening for severe recessive diseases

Dr Ravenscroft is involved in exploring the utility of a national carrier screening program for severe recessive diseases (Mckenzie’s Mission). She is a member of the gene selection and variant interpretation sub-committees. Her involvement with Mckenzie’s Mission follows her contribution in developing and evaluating the first couple-based reproductive carrier screening pilot project in Australia (The WA Carrier Screening Project, https://carrierscreeningwa.com/).