The FaceMatch Project uses state-of-the-art computer face-matching technology to match the faces of children with syndromic intellectual disability who remain without a molecular diagnosis following genetic testing.
Parents of children with a known genetic diagnosis will also be invited to participate.
The site will allow dual parent-doctor participation which can be initiated by either the parent or the doctor.
When project participation is initiated by the parent, they will be required to nominate an associated clinical geneticist or medical specialist.
When project participation is initiated by the doctor, the parents will be required to complete the FaceMatch parent / guardian consent before any information about their patient can be entered into the FaceMatch site.
Parents who would like to participate in the project, but would prefer their child’s nominated clinical geneticist / medical specialist enter information into the FaceMatch website on their behalf, can consent to ‘doctor only’ participation. In collaboration with participating doctors, the FaceMatch team aim to cluster facial images for the purpose of improving time to diagnosis in children with syndromic intellectual disability and potentially discovering novel ID genes.
Our multidisciplinary project team will continue to improve the face-matching algorithm and incorporate the use of human phenome ontology terms in the matching process.
We encourage clinician researchers to enter variant data into a matchmaker exchange node.
Understanding the genetic and biological pathways is the first step towards developing targeted molecular treatment for this group of children.