Family Study of the Genetics of Autism Spectrum Disorder

Project Details

Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder defined by impaired social communication and repetitive behaviours. ASD has a strong genetic basis, and traits of ASD are often found throughout the family. In some families, relatives have mild traits of ASD. In these families, there is likely a genetic cause that is being inherited throughout the family. We look at both large extended families who have have a strong family history of ASD to find genetic causes of ASD and also small families.



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

Research Outcomes

  • 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 Group

The Collaborative AuTism Study (CATS)

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 the research group leader.

Department / Centre


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