The goal of the Phenomics Translation Initiative is to deliver a significant enhancement in the translation of genomics discoveries to new therapeutic opportunities and treatment modalities through the support of research in emerging health priority areas and areas of unmet need, rare diseases, rare cancers and illnesses.

Currently, we only know about the pathological significance of a tiny proportion of the human genome, and we understand the mechanisms linking genomic variants to disease in an even smaller fraction. Consequently, the application of precision medicine in the clinic remains very limited.

The transition from genomic variant identification to new therapies is the mission of phenomics.

Goals of the Phenomics Translation Initiative

1. Understanding which rare gene variants contribute to disease
2. Defining how gene variants lead to disease mechanisms
3. Development and application of therapies that target pathways encoded by gene variants

The Centre for Personalised Immunology at ANU have established a modular Genomics-Phenomics pipeline.

This discovery pipeline comprises state-of-the-art bioinformatics, implemented at the National Computational Infrastructure, which identifies candidate disease-causing gene variants for further analysis.

The phenomics approach consists of sophisticated functional analysis of these candidate variants, focusing on production of bespoke laboratory models (with support from Phenomics Australia), where the precise gene variant identified in a patient is engineered into the genome of cell and animal model systems.

Outcomes: Improved diagnosis and better treatment options