Genomic Medicine

Lead by Professor Sandra Cooper, the Genomic Medicine group are a team of genetic detectives specialised in finding the causes of rare genetic conditions through RNA testing. We aim to revolutionise how we diagnose and treat rare genetic conditions, by comprehensive integration of RNA testing into practice and development of personalised RNA-correcting therapies.

For many people with genetic conditions who don’t receive a molecular diagnosis from DNA sequencing, the answer can often be found in their RNA. Our DNA contains genes that encode the instructions for making proteins. Proteins are not only the building blocks of our cells and tissues, but they are also the workhorses that carry out essential functions inside our cells to keep them healthy. DNA variants causing genetic conditions disrupt the process of creating these essential proteins. One particularly critical step to go from a DNA instruction to a functioning protein, is a molecular editing step called RNA splicing. Defects in RNA splicing can lead to faulty instructions, creating a protein which is built incorrectly or not at all, causing disease. Our team identify RNA splicing errors that cause rare genetic conditions.

Providing a name and genetic explanation for a condition is extremely valuable to families. It brings comfort, validation and individualised clinical management that can anticipate and prevent complications associated with that specific condition. A genetic diagnosis also gives members of the wider family options for prenatal screening and newborn disease prevention, avoiding the chance of risk recurrence. We are very excited when a genetic diagnosis highlights an available precision intervention or enables a person’s enrolment in a clinical trial.


  • We are a National Reference Centre for clinical RNA testing. Working side-by-side with doctors and diagnostic teams, we are introducing ground-breaking RNA diagnostic testing into routine clinical practice across Australia through a national research initiative called RNA for Rare Disease to help diagnose hundreds of children with rare genetic conditions. See our RNA for Rare Disease (RNA-4RD) research initiative page for more information.
  • We are developing personalised therapies in an organisation-wide initiative to develop robust diagnosis and treatment pathways for affected families.
  • We helped support the establishment of The Australasian Consortium for RNA Diagnostics, or SpliceACORD. The consortium brings together over 150 experts from all genetic pathology disciplines across Australia to streamline processes for RNA diagnostics.
  • We are developing a suite of advanced RNA analytical tools designed specifically for clinical workforces.
  • Our Kid’s Neuro Biobank, now known as Answers for Rare Disease (private) Biobank, holds thousands of clinical specimens and has powered 25 years of transformative research.

RNA for Rare Diseases (RNA-4RD) team

Lead by Professor Sandra Cooper, the RNA for Rare Diseases (RNA-4RD) team are introducing ground-breaking RNA diagnostic testing into routine clinical practice across Australia.

Their goals are to:

  • Transfer 10 years of learned skills in RNA testing into the capable hands of accredited genetic testing laboratories,
  • Improve diagnostic rates for rare disorders, and;
  • Revolutionise healthcare options for people with conditions caused by RNA splicing errors.

Genomics Informatics team

Our Genomics Informatics team are building a suite of advanced RNA analytical tools called RNA-Suite, which are designed specifically for clinicians. The RNA-Suite will report on all evidence, whether strong, weak, or conflicted, for expert scrutiny.

RNA-Suite tools determine statistically:

  • If a DNA variant will disrupt pre-messenger RNA splicing, or not,
  • How a DNA variant will disrupt the mature messenger RNA (mRNA) and encoded gene product,
  • How much mis-splicing arises from a variant allele, and;
  • Collectively enable variant reclassification and provision of a molecular diagnosis for an affected person.

RNA Therapeutics team

The RNA Therapeutics team are understanding exactly how a gene variant is disrupting RNA-splicing. We are perfectly positioned to identify RNA splicing mistakes that could be corrected by a special type of therapy, called antisense oligonucleotides (ASOs). ASOs are precision genetic tools that can correct the specific RNA splicing defect responsible for a particular genetic condition.

We are striving to establish a systematic pathway from an RNA diagnosis towards a personalised RNA therapy. This roadmap begins in laboratory studies where ASOs are tested in cells from the affected individual, RNA splicing and protein production is examined, and ASOs are progressively refined. A lengthy pathway lies ahead as we steer towards the goal of an individualised therapy.

Team members

Prof Sandra Cooper

Prof Sandra Cooper

Sandra is Head of the Genomic Medicine group focused on gene discovery and genomics. She is also the Scientific Director of the KNC.
Related Links
  • Clinical Prof Kristi Jones - KNC Clinical Trials Group Head
  • Mr Himanshu Joshi - Genomic Informatics Team Leader
  • Dr Chiemi Lynch-Sutherland - RNA4RD Project Officer
  • Mr Peter Kneale - Genomic Informatics Software Engineer
  • Dr Adam Bournazos - RNA4RD Postdoctoral Fellow
  • Dr Frances Lemckert - RNA4RD Senior Scientist
  • Ms Raisa Hasan - RNA4RD Research Assistant
  • Mr Rhett Marchant - PhD Student
  • Dr Wui-Kwan Wong - Clinician PhD Student