“FaceMatch will assist families or parents of a child with a rare genetic condition in their search for a diagnosis. Together, the rare disease community and the FaceMatch team can help make this a reality.Dr Mike Field, Director of NSW Genetics of Learning Disability (GOLD) service, Australia
Parents of a child with significant developmental delay or intellectual disability (ID) often spend many years and medical appointments searching for a diagnosis. Although there are various prenatal and environmental causes, the most common cause is genetic. Genetic changes can be inherited from one or both parents, but often occur for the first time in a child. Understanding the genetic cause of significant developmental delay or ID can guide medical management and reduce the sense of isolation for families.
Improved genetic testing has made it possible to test an individual’s entire genetic makeup (the genome) including all the known (approximately 1500) developmental genes in a single test. However, a diagnosis is still only achieved approximately 30-50% of the time, and there are a large number of developmental genes still to be discovered. Understanding the genes involved in brain growth and function is the first step towards developing treatments in the future.
FaceMatch aims to suggest a diagnosis in people where genetic testing has not provided an answer. People with the same genetic condition can often share similar facial features. By matching facial images and written descriptions of diagnosed and undiagnosed children from around the world, the project aims to provide an early diagnosis for more families and to discover new developmental genes.
As advanced genetic testing is not available for all families, we will also use the technology to match the faces of undiagnosed people with those who have a confirmed genetic diagnosis.
The chance of finding a match will increase as more people participate in the FaceMatch Project.
Who can participate?
- Parents of children with significant developmental delay or ID who remain without a genetic diagnosis following a review by a medical specialist.
- We would be grateful if parents of children with a confirmed genetic diagnosis to explain their developmental delay or ID consider contributing photographs to FaceMatch. This will improve our image database and help other families still searching for a diagnosis.
Thank you for considering participation in the international FaceMatch project. More information is available below.
The aim of the FaceMatch Project is to improve the chance of obtaining a genetic diagnosis for children and adults with intellectual disability around the world.Read more
Matching children with similar facial features may help identify the genetic cause of their intellectual disability.
The FaceMatch Project uses computer vision technology to match the faces of individuals from around the world.Read more
The project will be inviting individuals with diagnosed or undiagnosed intellectual disability to participate following informed consent.Read more
Parents and doctors can provide medical and genetic information.Read more
Parents will be asked to provide an email contact for the clinical geneticist/medical specialist who cares for their son or daughter.Read more
Information and facial images will be securely stored.Read more
If a high probability match is made, doctors can arrange to meet the parents to discuss the possible significance of the match.Read more
Your doctor can provide information and photographs of your child on your behalf.Read more