impact
Case Studies
Browse our case studies for some of the most exciting research findings Phenomics Australia has enabled.
Case Study: Sasha, Pioneering a First-in-Kind Treatment for SLC6A1 Neurodevelopmental Disorder
The challenge: SLC6A1 neurodevelopmental disorder is a rare genetic condition caused by mutations in the SLC6A1 gene, which encodes the GAT-1 (gamma-aminobutyric acid transporter 1) protein
Advancing Polycystic Kidney Disease Treatments: The Rise of xCystence Bio
Groundbreaking research into Polycystic Kidney Disease (PKD), an inherited condition that often leads to renal failure and requires dialysis or transplant, has led to the creation
Researchers uncover potential mechanism driving treatment resistance in common breast cancer
A team of Garvan scientists – assisted by the Victorian Centre for Functional Genomics, a Phenomics Australia node specialising in functional genomics and high throughput screening
Lab-grown ‘tiny hearts’: Development of an epicardial lineage tracing human pluripotent stem cell line to identify new cardiac therapeutics
Lab-grown ‘tiny hearts’ – developed with the support of the Phenomics Australia iPSC Derivation & Gene Editing Facility Node at Murdoch Children Research Institute (MCRI) and
Expanding the Toolbox: A Novel Mouse Model for Duchenne Muscular Dystrophy
New research marks the important addition to the preclinical model toolbox for the development and testing of novel therapies for DMD — with sophisticated preclinical models
New Mouse Model Sheds Light on Hormones Behind Fertility and Pregnancy Loss
A breakthrough mouse model —generated by Phenomics Australia’s Monash Genome Modification Platform node— reveals how inhibins finely balance fertility and pregnancy, offering new insights for improving
Biobanks: the Australian Phenome Bank
A Phenomics Australia case study The Australian Phenome Bank: a national biobank and database aiding the discovery of genetic disease causes and advancing Personalised Medicine. Phenomics
CRISPR/Cas as diagnostics tools
A Phenomics Australia case study Phenomics Australia NCRIS expertise is used in providing knowledge to look into the commercial and translational potential of CRISPR technology. Phenomics
When food kills
A Phenomics Australia and Therapeutic Innovation Australia case study Infrastructure and expertise supported by Phenomics Australia and Therapeutic Innovation Australia (TIA)are used in fighting food poisoning
Research Highlights
For nearly 15 years, Phenomics Australia has been providing Australia’s leading universities and medical research institutes with top infrastructure and research models for vital biomedical research. Browse our archives for the most exciting research findings on Phenomics Australia’s history.
NCRIS: The power behind Australia’s science
Phenomics Australia, an NCRIS member Australian science continues to make national and international headlines, most recently focussing on the COVID-19 pandemic and the 2019 – 2020
Subsidised access to specific mouse strains for COVID-related research available now
Through a $1m Australian Commonwealth Government grant for rapid resourcing of our genome engineering and model import services, we offer subsidised access to specific mouse strains
How Australia’s national research infrastructure is responding to COVID-19.
Phenomics Australia has been engaging with other National Collaborative Research Infrastructure Strategy (NCRIS) facilities to publish an interactive infographic on how this national network of world-class research infrastructure projects is
Phenomics Australia supports bushfire research, recovery & resilience
Phenomics Australia provides expertise and customised model systems necessary for preclinical biomedical research on the effects of bushfires on human health. Australia’s National Research Infrastructure supports
The competition between Multidrug Resistant Bacteria and Antibiotics
The Phenomics Australia Histopathology Node based in the University of Melbourne provides a unique set of services to biomedical researchers across Australia. The histopathology and necropsy
PATHBIO – an international teaching opportunity
PATHBIO is a new, international project based in the European Union aimed at developing a strong educational program for Mouse Precision Pathobiology. The project was initiated
A Medical Milestone achieved by the APF and Genentech
The Australian Phenomics Facility (APF) at ANU was founded in 2005, initially funded directly by the Australian Commonwealth Government before Phenomics Australia was founded. For the
CUNE, a new and more versatile way to edit the genome using artificial intelligence.
Researchers from the Commonwealth Scientific and Industrial Research Organisation (CSIRO) and the John Curtin School of Medical Research (JCSMR) at the Australian National University have collaborated
Phenomics Australia – Enabling Genomic Medicine
“For over ten years, Phenomics Australia, formerly the Australian Phenomics Network (APN), has been providing Australia’s leading universities and medical research institutes with top infrastructure and