Discovery of circulating RNA biomarkers in autism

Project Details

Autism is a complex, heterogeneous neurodevelopmental disability with an early childhood onset and a lifelong course. The identification of biomarkers to define biologically homogeneous subgroups, predict risk, and aid the diagnosis of autism would greatly facilitate the management of this common disorder, which affects ~1% of the population.

This research project seeks to identify circulating RNA biomarkers that are dysregulated in autism and, using this information, aims to develop a diagnostic blood test for autism. In this way, the research seeks to overcome the current difficulties that exist around obtaining a diagnosis of autism and, by doing so, should help to facilitate intervention and thus improve outcomes for autistic children and their families.


  • Dr Ken Pang, Consultant Paediatrician
  • Dr Nicole van Bergen, Research Officer
  • Dr Rocio Ruis, PhD Candidate
  • Ms Simran Kaur, PhD Candidate
  • Ms Marilou Barrios, PhD Candidate
  • Mr Blake Smith, PhD Candidate
  • Ms Lucy Liu, MA Candidate


  • Metabolic Research Group – Kids Research Institute, Sydney Children’s Hospitals Network
  • Professor Carolyn Sue – Kolling Research Institute, Sydney
  • Professor David Ravine – School of Pathology and Laboratory Medicine, University of Perth
  • Professor Helen Leonard – Telethon Kids Institute, Perth
  • Dr Yiran Guo and Dr Brendan Keating – Center for Advanced Genomics, Children’s Hospital of Philadelphia
  • Dr Carole Lister, Luxembourg Centre for Systems Biomedicine, Universite du Luxembourg

Research Group

Neurodevelopmental Genomics Research

Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine, Neuroscience & Psychiatry

Key Contact

For further information about this research, please contact the research group leader.

Department / Centre


MDHS Research library
Explore by researcher, school, project or topic.