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.
“Phenomics Australia users come back for more”
We’re excited to share the fantastic results from our recent user satisfaction survey! Your feedback highlights the impact of Phenomics Australia’s services and reinforces our commitment
New CRISPR techniques developed to reprogram skin cells to study brain diseases
Infrastructure and expertise supported by Phenomics Australia are being used to address the gap in genetic disease diagnosis. The challenge: One-third of known disease genes, many
The NCRIS Health Group warmly welcomes the release of Australia’s RNA Blueprint
The NCRIS Health Group warmly welcomes the release of Australia’s RNA Blueprint by the Australian Department of Industry, Science and Resources. The NCRIS Health Group includes
Behind the Scenes Sneak Peek: Capturing the Minds Behind the Breakthroughs
Stay tuned for an exclusive series of video interviews highlighting Phenomics Australia‘s services and expertise. Initiated by the Australian Government Department of Education, we delve deep
Member of Parliament Mr David Smith visits JCSMR and Phenomics Australia
On Wednesday 1st of May, Mr David Smith MP, Member for Bean, visited the John Curtin School for Medical Research (JCSMR) and Phenomics Australia at the
Phenomics Australia awarded over $15m under the 2023 Research Infrastructure Investment Plan funding
The Commonwealth Government Department of Education has announced that Phenomics Australia will receive over $15m under the National Collaborative Research Infrastructure Strategy (NCRIS), to address Australia’s
“Phenomics Australia provides the very best tools and expertise to help me make scientific breakthroughs”
We are thrilled to share the outstanding results from our recent user satisfaction survey. Through user feedback, we are very pleased that a remarkable 96% of
Kathleen Folbigg – “A Victory For Science”
Crucial scientific evidence presented by a group of international scientists, and supported by Phenomics Australia, has led to the release of Kathleen Folbigg after two decades
Working with Human Bioespecimens: Ethical Considerations
Regulations governing the protection of human research subjects are based on the ethical principles identified in the 1978 Belmont Report, the Nuremberg Code and the Declaration