Through the national research infrastructure provided by Phenomics Australia, research has been changing lives through Precision Medicine with breakthroughs for Lupus treatments.
On the 10th of May, we take a moment to show support for the millions affected by lupus.
The challenge: The cause of lupus has been poorly understood.
Lupus is an autoimmune disease that targets the body’s healthy tissue, causing significant damage, inflammation, and pain. Lupus currently has no cure.
Lupus treatment focuses on managing symptoms, preventing flares, and minimizing organ damage through a combination of medications and lifestyle changes.
Phenomics Australia has enabled world-first research to identify the genetic cause of lupus, and continues to paving the way for new and tailored lupus treatments.
In a world-first, researchers using NCRIS project Phenomics Australia’s Genome Engineering services have shown that previously ignored rare genetic mutations are a major cause of lupus.
The NCRIS supported Phenomics Australia infrastructure, including the Genome Engineering service at the Australian National University, the Australian Phenomics Facility and the Histopathology and Slide Scanning service at the University of Melbourne played a long-term collaborative key role in this study.
A new study supported by Phenomics Australia has found that rare coding variants in a lupus risk gene could help understand how the immune system mistakenly targets the body’s own tissues.
Scientists show the importance of “putting the brakes on” cytokines to prevent autoantibodies and lupus
An international team of scientists including researchers from The Australian National University (ANU) and supported by services from Phenomics Australia, have identified a rare, mutated version of a protein called TNIP1 that causes a chronic autoimmune disease similar to Sjogren’s Syndrome – a condition that leads to extreme dryness of the eyes and mouth that can cause blindness if left untreated.
Eye-opening discovery offers fresh hope for disease that can cause blindness
With an established track record and reputation for excellence, Phenomics Australia In Vivo Genome Engineering team uses techniques such as CRISPR-mediated mutagenesis, classical gene targeting, and transgenesis to create optimal tools for your research delivering a comprehensive service in genome modification. To meet the high demand for this platform, Phenomics Australia offers genome editing services through five nodes across Australia, operating at Monash, ANU, WEHI, SAHMRI and PeterMac.
The Australian Phenomics Facility specialises in the development, characterising and archiving of mouse models of human disease. They have an experienced genomics and bioinformatics capability focussed on the identification of single nucleotide polymorphisms and the phenotyping capability to make the biological associations with probable human disease traits. Their goals are to first derive the underlying genetic mechanisms and then look to extend this across the population and better understand cohort differences and responses.
The facility was established in 2005 and receives funding from the Australian Government’s NCRIS, Super Science and CRIS programmes through the Phenomics Australia and contributions from the Australian National University.
They have an open access policy and support academic and corporate research programmes in Australia and internationally.
Phenomics Australia Histopathology and Slide Scanning Service helps researchers across Australia in analysing histology images and data on genetically modified or treated experimental animals. This service offers the latest in high-quality capabilities, including: Quality-controlled mouse necropsies and tissue preparation, pathological analysis and scoring of tissues, digital slide scanner capable of producing high-quality images, high-resolution light microscopy with electronic image capture, and specialised staining.
Staff providing this service have extensive histology, diagnostic and electronic imaging experience. Consultant Medical and Veterinary Pathologists are available to provide expert advice.
The Histopathology and Slide Scanning Service is based at the Department of Anatomy and Physiology at the University of Melbourne.
