There are various prenatal and environmental causes of intellectual disability (ID). The most common cause is genetic. Genetic changes can be inherited from one or both parents and they often occur for the first time in a child. Understanding the genetic cause of ID can guide medical management and reduce the sense of isolation for families.
There are close to 1500 genes associated with developmental disorders. Recent advances in genetic testing technology have revolutionised paediatric diagnoses. They allow us to test all 1500 genes in a single cost-effective analysis. However, despite testing all the known genes, up to 50-70% of children with ID remain without a genetic diagnosis. Each of these children can have up to three million unique changes in their genetic code, which can be challenging to interpret. In addition, there remain an estimated 2000 genes associated with ID still to be discovered.
Up to 50% of people diagnosed with ID have characteristic facial features. FaceMatch is a computer vision technology that outperforms senior clinical geneticists on a range of phenotyping tasks. The technology can be used to prioritise genes for genetic analysis and to match the faces of undiagnosed children. Identifying a second or cluster of individuals with the same facial features allows scientists to compare their genetic code and potentially discover new genes.
The project is led by Dr Tracy Dudding-Byth, Clinical Geneticist within the NSW Genetics of Learning disability service. Hunter New England Research Ethics Committee has approved the project. Information about FaceMatch, including privacy and security, is available on their website.
Who Can Participate?
Parents of children with intellectual disability (ID) who remain without a genetic diagnosis following a clinical geneticist’s review can participate in FaceMatch.
FaceMatch would be grateful if parents of children with ID who have a confirmed genetic diagnosis would consider contributing photographs to the project. This will improve the image database and help other families still searching for diagnoses.