The Application Of Genomic Testing In Adults With Intellectual Disability

Research Opportunity
Royal Children’s Hospital/Murdoch Childrens Research Institute
Primary Supervisor Email Number Webpage
Professor David Amor +61399366404 Personal web page
Co-supervisor Email Number Webpage
Dr Natasha Brown +61383416256
Professor John Christodoulou +61399366353

Project Details

We hope to recruit a high quality medical graduate/trainee to undertake a clinical and genomic study of adults with intellectual disability. The proposal is to recruit two cohorts of adults with ID, one being adults with ID referred to adult genetics clinics and the other being adults with intellectual disability who have not been referred to genetics, who will be recruited from other clinics that cater to the needs to adults with intellectual disability. All adult patients will undergo clinical assessment and traditional investigations (e.g. microarray, FXS) and will be offered genomic testing via exome sequencing. We will collect and assess data regarding diagnostic yields of clinical assessment, microarray and exome sequencing. We will also study the interest of families in exome sequencing, the acceptability of testing and the clinical utility of genetic testing results. In addition, we will also offer families/guardians the opportunity to receive secondary findings from exome sequencing, and assess interest and uptake of these analyses. A health economic analysis will also be performed comparing ID in older populations to those with paediatric onset.

Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine

Research Opportunities

Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research

Graduate Research application

Honours application

Key Contact

For further information about this research, please contact a supervisor.



Research Node

Royal Children’s Hospital/Murdoch Childrens Research Institute

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