Rate My Professor Gina Ravenscroft

Professor Gina Ravenscroft is a Professor and Senior Principal Research Fellow in the UWA Medical School at the University of Western Australia, affiliated with the Harry Perkins Institute of Medical Research. She completed her BSc (Hons) in Physiology from the University of Western Australia in 2004 and her PhD in Physiology in 2009, focusing on therapeutic approaches for skeletal muscle alpha-actin based congenital myopathies under the supervision of Professor Nigel Laing and others. Following her PhD, Ravenscroft held an NHMRC Early Career Fellowship from 2011 to 2016 within Professor Nigel Laing's group at the Harry Perkins Institute. She is presently supported by an NHMRC Career Development Fellowship as a Senior Research Fellow at UWA and established the Rare Disease Genetics and Functional Genomics Group at the Harry Perkins Institute in 2020, which she leads. An Honorary Patricia Verne Kailis Fellow, she has earned distinctions including Young Myologist of the Year at the World Muscle Society International Congress (2016), Young Tall Poppy from the Australian Institute of Policy and Science (2016), Associate Member of the Australian Academy of Health and Medical Sciences (2020), and the School of Biomedical Sciences Mid-Career Research Award (2023).

Ravenscroft's research centers on rare genetic diseases, particularly neurogenetic conditions in infants and children, encompassing congenital myopathies, neuropathies, fetal akinesia, and arthrogryposis. She has discovered more than 10 novel human disease genes, utilizing exome and genome sequencing, RNA sequencing, single-cell analyses, functional assays, and patient-derived iPSCs to investigate pathobiology, enhance diagnostics, and explore therapies. Notable publications as senior author include 'Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics' (Journal of Medical Genetics, 2020), 'Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic inclusions' (Nature Communications, 2019), 'Bi-allelic mutations in MYL1 cause a severe congenital myopathy' (Human Molecular Genetics, 2018), 'Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy' (American Journal of Human Genetics, 2013), and 'Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies' (Brain, 2011). She collaborates globally on gene discovery projects, contributes to diagnostic genomics, and holds roles such as Secretary of the National Association of Research Fellows and Chair of the Harry Perkins Institute's Early- and Mid-Career Researcher Committee. Ravenscroft advocates for women in science and mentors early-career researchers.