Professors Zornitza Stark, David Thorburn and John Christodoulou are among the 17 Australian researchers who led grants that received a share of $46.5 million for genomics research. The research aims to improve diagnosis outcomes for families affected by rare disease.

The funding is part of the 2021 MRFF Genomics Health Futures Mission round, announced today by Federal Health Minister Greg Hunt.

Despite the enormous progress in genomic sequencing, nearly half of all people with a rare disease do not receive a genetic diagnosis. Limited knowledge of the underlying pathology of the thousands of rare diseases hinders the ability to develop potential treatments.

Read about the projects that aim to increase rare disease diagnoses and improve patient outcomes here:

A national large-scale automated reanalysis program to increase rare disease diagnosis

Professor Stark, clinical geneticist at the Victorian Clinical Genetics Service and Clinical Research Fellow at Australian Genomics, will lead a national program to increase the rate of diagnosis for patients who have undergone genomic testing by harnessing the power of existing genomic data.

"Re-analysing existing genomic data over time significantly improves diagnosis in rare disease. Despite strong support at professional and health policy levels, routine reanalysis is currently limited by a heavily manual process. We will unlock the potential for data to provide answers to families through large-scale automation of the reanalysis process,” she said.

Professor Stark’s team will develop, implement, and evaluate a national program for automating and scaling up the reanalysis process, which is expected to benefit thousands of families affected by rare disease. This project is led by a national team including Dr Daniel MacArthur, Director of the Centre for Population Genomics, and VCGS Associate Professor Sebastian Lunke, Head of the Division of Genetics and Genomics and Dr Simon Sadedin, Head of Clinical Bioinformatics.

The Australian Undiagnosed Diseases Network (UDN-Aus): An internationally networked national approach for transforming diagnosis for individuals living with rare diseases.

Professor Christodoulou’s project aims to increase the rate of rare disease diagnosis to over 70 per cent within three years, which will drastically shorten the diagnostic odyssey for people living with ‘orphan disorders.’

“Despite the creation of new gene sequencing technologies, half of people with rare genetic disorders remain without a diagnosis. To address this gap, we will establish the Undiagnosed Diseases Network of Australia, bringing together a national crack team of medical specialists, diagnostic laboratories, computing experts and researchers,” he said.

Professor Christodoulou said the national network, which includes researchers from every state and territory in Australia, will harness the latest genomic technologies, emerging computer-based tools and lab-based techniques to boost the diagnosis in these unsolved cases.

Mitochondrial Diagnostic Network for Genomics and Omics

Professor Thorburn leads the VCGS Mitochondrial Laboratory. His research project focuses on mitochondrial disease, the most common group of inherited metabolic disorders, which can be caused by changes in more than 350 different genes and affect any or all of our organ systems.

“New genomic (DNA) technologies have increased our ability to diagnose mitochondrial diseases from less than a quarter of patients to about a half,” he said. "Our project establishes a national network seeking to identify new genes, mechanisms and phenotypes, while enabling personalised treatments and achieving better health outcomes for patients with these diseases.”

The study seeks to further improve the diagnostic rate by using new ‘-omic’ technologies, that can simultaneously detect changes in thousands of proteins and molecules.

Further reading.

Professors Stark, Christodoulou and Thorburn join other Murdoch Children's Research Institute researchers who were awarded funding. Read the full news story on the Murdoch Children's Research Institute website.