The Collaborative AuTism Study (CATS)

Research Overview

The Collaborative AuTism Study (CATS) originated in the Geelong region over 10 years ago due to the efforts of Associate Professor Peter Hewson, a local paediatrician who ascertained that autism was one of the most challenging disorders that a paediatrician faced. He saw a need to study and understand Autism Spectrum Disorder (ASD). Starting with a regional database of patients with ASD, A/Prof Hewson sought a collaboration with Professor Ingrid Scheffer, paediatric neurologist, and Professor Martin Delatycki, clinical geneticist. Together they established the CATS team, and sought to measure the prevalence of ASD in the region, and to identify its genetic causes.

Today, our multidisciplinary team is working on gene discovery for various medical disorders, with expertise in clinical, molecular, bionformatics, and basic science domains. In collaboration with molecular scientists, Professor Scheffer discovered the first gene for epilepsy and many epilepsy genes since. Using the new genetic technologies, and working with molecular scientists, she has led the discovery of several genes for ASD and intellectual disability. Together, the CATS team bring their combined expertise to the challenge of finding genetic causes of ASD and understanding their inheritance.

To identify genetic causes of ASD and other risk factors, our team studies individuals with ASD and their families using cutting-edge research methods and technologies.



  • The Royal Children's Hospital
  • Barwon Health
  • The Murdoch Childrens Research Institute
  • Austin Health
  • Professor Evan Eichler, Genomic Scientist, University of Washington


  • Understanding the Neurobiology of Autism Spectrum Disorder (Project Grants) awarded by NHMRC 2016-2020
  • Gene Discovery in Families with High-Functioning Autism Spectrum Disorder awarded by The Rebecca L Cooper Medical Research Foundation 2016
  • Gene Discovery in Families with High-Functioning Autism Spectrum Disorder awarded by The Austin Medical Research Foundation 2016

Research Publications

  • van Bon BW, … Green C., ... Scheffer IE, … Eichler EE. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Molecular Psychiatry 2016;. 21(1): 126-132.
  • Coe BP, … Brown N, Lockhart P, Scheffer IE, Eichler EE. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics 2014; 46(10): 1063-1071.
  • Stressman HA, … Scheffer IE, Delatycki MB, Lockhart PJ, … Eichler EE. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature Genetics 2017; 49(4): 515-526.
  • Hynes K, …Brown NJ, Desai TD, … Scheffer IE. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of Medical Genetics 2010; 47(3): 211-6.
  • Richard AE, Scheffer IE, Wilson SJ. Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder. Neuroscience and Biobehavioural Reviews 2017; 75: 203-233.
  • Icasiano F, Hewson P Machet P, Cooper C, Marshall A. Childhood autism spectrum disorder in the Barwon region: A community based study. Journal of Paediatrics and Child Health 2004; 40(12): 696-701.
  • Scheffer IE et al., Epilepsy and mental retardation limited to females: An under-recognised disorder. Brain 2008; 131: 918-27.

Research Projects

Faculty Research Themes

Neuroscience, Child Health

School Research Themes

Neuroscience & Psychiatry, Child Health in Medicine

Key Contact

For further information about this research, please contact Professor Ingrid Scheffer

Department / Centre


Unit / Centre

The Collaborative AuTism Study (CATS)

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