The Application Of Genomic Testing In Adults With Intellectual Disability
- Research Opportunity
- Royal Children’s Hospital/Murdoch Childrens Research Institute
|Professor David Amoremail@example.com||+61399366404||Personal web page|
|Dr Natasha Brownfirstname.lastname@example.org||+61383416256|
|Professor John Christodoulouemail@example.com||+61399366353|
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
School Research Themes
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
For further information about this research, please contact a supervisor.
Research NodeRoyal Children’s Hospital/Murdoch Childrens Research Institute
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