Gina Ravenscroft

Professor Gina Ravenscroft is a Rare Disease Genetics and Functional Genomics Professor at the University of Western Australia, working within the Genome Biology and Genetics Program at the Harry Perkins Institute of Medical Research. She received her PhD from UWA in 2009 and established her own research group at the Harry Perkins Institute in 2020. As an NHMRC Career Development Fellow and Honorary Patricia Verne Kailis Fellow, she leads the Rare Disease Genetics and Functional Genomics Group, which continues to work closely with the Preventive Genetics Group of Prof Nigel Laing.

Professor Ravenscroft's educational background includes:

• PhD from the University of Western Australia (2009)

Professor Ravenscroft's research focuses on rare genetic diseases, with particular emphasis on neurogenetic diseases in babies and children. She is recognized as a world leader in fetal akinesias and congenital myopathies. Her work spans gene discovery in severe early-onset diseases, neuropathies, skeletal muscle biology, transcriptomic profiling, functional genomics, and biobanking of patient-derived iPSCs. She has identified more than 10 novel human disease genes and continues to investigate the pathobiology associated with genetic defects using laboratory-based assays.

Her publications demonstrate a consistent focus on neuromuscular and neurogenetic disorders, with particular attention to congenital myopathies, fetal movement disorders, and gene discovery in rare diseases. Her research combines genomic technologies with functional validation to identify disease mechanisms and potential therapeutic targets.

Professor Ravenscroft has received numerous scientific awards and recognitions:

• Young Myologist of the Year at the 2016 International Congress of the World Muscle Society
• Australian Institute of Policy and Science Young Tall Poppy (2016)
• Associate Member of the Australian Academy of Health and Medical Sciences (2020)
• NHMRC Career Development Fellow
• NHMRC Early Career Fellowship (2011-2016)
• Honorary Patricia Verne Kailis Fellow

Professor Ravenscroft is a committed advocate for medical research and early- and mid-career researchers. She serves as Secretary of the National Association of Research Fellows (NARF) and Chair of the Harry Perkins Institute's EMCR Committee. Her research is supported by NHMRC funding and other grants, enabling her team to pursue innovative approaches to rare disease diagnosis and treatment development.

The Ravenscroft Lab is a collaborative team of medical scientists, genetic counsellors, and clinicians focused on advancing knowledge and increasing diagnosis for people living with rare diseases. The lab emphasizes collaboration, curiosity, excellence, and integrity in research, while prioritizing inclusiveness, growth, respect, and creating a positive workplace environment.