Family Study of the Genetics of Autism Spectrum Disorder

Researcher

• 
  Professor Ingrid Scheffer

  i.scheffer@unimelb.edu.au

  View researcher's webpage

  +61 3 9035 7344

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.

Researchers

• Professor Ingrid Scheffer AO, Chief Investigator, Paediatric Neurologist
• Professor Martin Delatycki, Investigator, Clinical Geneticist
• Associate Professor Paul Lockhart, Investigator, Molecular Geneticist and Cell Biologist
• Professor Sarah Wilson, Investigator, Clinical Neuropsychologist
• Professor Melanie Bahlo, Investigator, Bioinformatician
• Dr Cherie Green, Postdoctoral Research Fellow
• Dr Kiymet Bozaoglu, Senior Research Officer
• Peter Diakumis, Bioinformatics Research Assistant
• Greta Gillies, Research Assistant
• Krysta Trevis, Research Assistant

Collaborators

• 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.