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, but often occurs 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 developmental disorder genes and up to 50% of people with a diagnosis of ID have characteristic facial features. Recent advances of genetic testing technology has revolutionised paediatric diagnosis by allowing us to test all 1500 genes in a single cost-effective analysis. However, despite testing all the known genes, up to 70% of children with ID remain without a genetic diagnosis. Each of these children have 3 million unique changes in their genetic code which can be challenging to interpret, and there are an estimated 2000 ID genes still to be discovered.
FaceMatch is a computer vision technology which 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, and the project has been approved by Hunter New England Research Ethics Committee. Information about FaceMatch including privacy and security is available on their website.
Who can participate?
Parents of children with ID who remain without a genetic diagnosis following a review by a clinical geneticist.
FaceMatch would be grateful if parents of children with ID who have a confirmed genetic diagnosis would consider contributing photographs to FaceMatch. This will improve their image database and help other families still searching for a diagnosis.
Whole Genome Sequencing for Rare Diseases
Ilumina have produced an excellent resource on Whole Genome Sequencing for Rare Disease – a Global Patient Advocacy Resource. Many thanks to Illumina for granting SWAN Australia permission to use this resource.
Are you considering Direct to Consumer Testing?
Genioz has a great resource designed to assist you in thinking about what is important to you if/when deciding to order a personal genomic test/online DNA test.