Deputy Group Leader
Dr Gina Ravenscroft
Deputy Group Leader
Dr Gina Ravenscroft
Dr Gina Ravenscroft is a postdoctoral researcher and current recipient of an Australian National Health and Medical Research Council Early Career Fellowship, and the Deputy Group Leader of the Neurogenetic Diseases Laboratory. Gina joined Professor Laing’s laboratory as a PhD student after obtaining her undergraduate degree and Honours qualifications majoring in Physiology at UWA.
Her main research interests include investigating the genetics and pathobiology of rare groups of neurogenetic diseases, including foetal akinesia, Strongman syndrome and paediatric cardiomyopathy.
Gina and Professor Laing identified that there was an unmet need for disease gene discovery in a group of patients with very severe neuromuscular diseases that present in utero with abnormal movements (foetal akinesia). Most of these patients do not survive to term or die in the early neonatal period. In a collaboration with neurologists, geneticists and pathologists from across Australia (including via the Australasian Neuromuscular Network) and overseas, Gina is collating a cohort of patients with foetal akinesia due to an underlying neuromuscular condition without a genetic diagnosis. In just a short time, this cohort has increased to over 160 cases from more than 130 unrelated families from Australia, France, Germany, Honk Kong, Iran, Italy, Turkey and the United Kingdom. The team is currently using traditional and next generation sequencing technologies to identify the causative disease genes in this cohort; the associated pathogenesis is also been investigated. To date, five novel disease genes have been identified within this cohort (including KLHL40 and KLHL41 which are both published). This research is currently funded by a Project Grant from the NHMRC, the French Muscular Dystrophy Association (AFM), and the Liuzzi Foundation and is a focus of Ms Sarah Beecroft’s PhD candidature.
Gina is investigating Western Australian patients and families with similar phenotypes to families identified in the French Canadian population by Professor Bernard Brais (McGill University, Montreal). Gina and Professor Brais are using traditional and next generation sequencing technologies to identify the genetic basis of the conditions in these families. This research is currently funded by a Project Grant from the NHMRC.
Gina is also investigating Turkish patients with paediatric cardiomyopathy. This collaboration has budded from the collaborations Gina has had with Turkish clinicians on foetal akinesia families. The strength of the Turkish paediatric cardiomyopathy cohort is the high percentage of consanguineous cases which should facilitate discovery of the causative recessive mutations.
Gina has investigated the pathobiology of some of the disease genes she has identified using the skill set in muscle physiology and skeletal muscle culture that she obtained during her Honours degree in Physiology and her PhD. She has also used this skill set on the animal models we have developed to investigate the pathobiology of the skeletal muscle actin diseases and the proof of principle that cardiac actin can be used to treat skeletal muscle actin diseases.
Her current focus for this research is investigating the pathobiology of the candidate novel disease genes she has identified and in assessing the Group’s investigation of clinically applicable therapies for the skeletal muscle actin diseases, particularly investigating the use of viral gene therapy to deliver normal actin genes to the mouse models of both dominant and recessive skeletal muscle alpha-actin diseases. The muscle pathobiology research is funded by the NHMRC, the Association Francaise contre les Myopathies and A Foundation Building Strength for Nemaline Myopathy.