Overview

The Australian Phenomics Facility is a purpose-built mouse breeding and management operation with a number of specialist teams for supporting major research platforms. It has an open access policy and supports research programmes for groups around Australia and internationally.

The ambition of the APF is to be the instigator of a steady flow of fundamental discoveries of human biological functions and for these to quickly translate into medical advisories or new health treatments.

What makes the APF unique is the focus on recessive causes of human disease, and having the scale of operation to perform large-scale and in-depth screening for new phenotypes upon which researchers can base ongoing investigative experiments.

The APF has for nearly ten years been building collections of variant mice, many of which are contained in a frozen repository - The Australian Phenome Bank - and are available for researchers to use.

More recently the work of the APF has been greatly enhanced by the ability of next generation sequencing to identify causative gene functions in both humans and mice around particular diseases. This is making available in rapid fashion a range of possible gene associations with human disease to study and understand. From this will flow a number of more detailed investigations and approaches for improved personal medicine.

To support the later development in NGS the APF has a strong genomics and bioinformatics capability focused on mouse SNP detection and making the biological association with probable human gene disease traits. The goal is to firstly derive the individual patterns of causation and then look to extend this across the population and better understand cohort differences and responses.