Finding answers through RNA

A new diagnostic tool is hoped to unlock more answers for children living with rare and undiagnosed genetic diseases through the use of RNA testing.

The 'RNA for Rare Disease' (or RNA-4RD) project, led by Professor Sandra Cooper, Co-Head and Scientific Director of Kids Neuroscience Centre at SCHN, Adjunct Research Scientist at the Children's Medical Research Institute (CMRI) and Professor at the University of Sydney, received $2.9 million in this year's Medical Research Future Fund grants to integrate RNA testing into mainstream clinical practice.

Currently, genetic disorders affect 1 in 100 individuals.  DNA testing provides answers for around half of these people, however for the other 50 per cent, the cause of their condition has remained unknown. For those undiagnosed patients, the answer can lie in their RNA.

Unlike DNA, which stores the genetic information for the cell, RNA uses the information stored in DNA to make proteins and acts as a messenger between DNA molecules and the ribosomes.

Through RNA sequencing, researchers will be able to offer families living with rare genetic diseases or inherited cancer predisposition a precise genetic diagnosis and revolutionise their personalised health care options. 

"We want to provide genetic answers for families who previously had none, enabling early diagnosis, early intervention, reproductive counselling, disease prevention and potential eligibility for relevant clinical trials,’’ Professor Cooper said.

"A precise genetic diagnosis is the key to personalised healthcare, disease prevention, treatment and sometimes a cure and that is what this grant is helping us do."

"We are now poised to translate RNA testing from a research context into practice. Australia will be among the first in the world to do so.’’

The project will involve a nationwide collaboration between research centres, pathology labs and clinical genetic departments to embed RNA Diagnostics in clinical diagnostics.

Professor Cooper's work is also supported through Luminesce Alliance, a cooperative joint venture established with the support of the NSW Government to improve children's health through world-leading research.