Perkins Professor Gina Ravenscroft has been awarded more than $2.5M as part of the National Health and Medical Research Council (NHMRC) 2026 Investigator Grant made to the University of Western Australia.
Gina is an internationally recognised researcher working to uncover the genetic causes of rare diseases, in particularly those affecting babies and children.
She is the inaugural Dr Patricia Kailis Chair in Rare Diseases at The University of Western Australia as part of the WA Rare Care Comprehensive Centre.
Professor Ravenscroft’s Investigator Grant Funding application aims to” Tackle Unmet Need in Genetic Diseases.”
“My translational research program supported by this investigator grant will address these grand challenges by identifying the missing heritability in neuromuscular diseases; by delivering an improved diagnostic paradigm for recurrent pregnancy loss and to understand disease mechanisms and develop innovative and effective therapies,” she said.
“For patients experiencing either neuromuscular disease or Recurrent Pregnancy Loss (RPL), a genetic diagnosis is life-changing and of immediate impact.
“It enables precision medicine, informs prognosis, allows genetic counselling and enables families to connect with others in similar circumstances, sharing knowledge and engaging in advocacy, research and trials.
“Genetic diagnosis enables both preventive and therapeutic action: it allows for prenatal or IVF and pre-implantation genetic diagnosis and supports the development of targeted treatments.
“In doing so it reduces both patient suffering and costs to the healthcare system.
“This vital research will increase our understanding of the genetics underpinning human disease and disease mechanisms.
“This will improve diagnosis and treatment and reduce suffering for families affected by genetic diseases and RPL.
“Biobanking of patient material will enable discovery and capacity-building beyond this program, positively impacting those living with neuromuscular diseases and RPL worldwide and reinforcing Australia’s leadership in genomics, rare disease and reproductive health.”
There are more than 8,000 known rare diseases and despite their name, they are collectively common, affecting more than 300 million people worldwide.
In Australia, 1 in 12 people suffer from a “rare disease” (a disease affecting fewer than 1 in 2,000 people), and >80% of rare diseases are genetic.
Every day in Australia, approximately 300 miscarriages occur and for 10-20% of affected women this will not be their first or last loss.
“My research vision is to tackle these unmet needs by identifying the missing genetics underlying neuromuscular diseases and RPL, modelling neuromuscular diseases and developing targeted therapies,” said Professor Ravenscroft.
“Through data sharing, strategic partnerships, and engagement with policy makers and government, I will ensure research discoveries, including the utility of emerging genomic technologies, are implemented within the health system for the benefit of all patients and families.”
Perkins CEO, Professor Peter Leedman AO is s immensely proud of Professor Ravenscroft, her work at the Perkins and her meaningful research.
“Congratulations to Professor Gina Ravenscroft on this incredible achievement,” he said.
“Gina has an exceptional track record in the neuromuscular disease field, including translation of research findings into healthcare via diagnostic genomics.
“For the Perkins this grant strengthens our commitment to rare disease research. deepening collaboration across the sector and enhancing our global standing in this field.”
