INVITATION TO PARTICIPATE
To the parents and carers of children and adults with Koolen-de Vries SyndromeWe are contacting families with a confirmed genetic diagnosis to consider participation in the FaceMatch research project. The FaceMatch project is using computer face-matching technology to help find a diagnosis for children with intellectual disability (ID) where genetic testing has not provided an answer.
As we know, the time prior to diagnosis is one of the toughest periods in the journey of our children and we hope that the inclusion of families such as yours with a known diagnosis may help those families who are still searching for a diagnosis. People with the same genetic condition can often share similar facial features. By matching facial images and written descriptions of undiagnosed children and adults from around the world, the project aims to provide a genetic diagnosis for children at an earlier age, help more families find a diagnosis and discover new ID genes.
The FaceMatch project includes a Koolen-de Vries Syndrome Early Diagnosis Study to determine whether facial images can assist with early diagnosis of Koolen-de Vries Syndrome by the age of 12 months. We are inviting you to consider helping us with this project by contributing photographs of your family member(s) with Koolen-de Vries Syndrome to the secure FaceMatch image database. Each image helps improve the ability of the FaceMatch programme to recognise certain facial features and syndromes.
If you would like any further information, please contact Genetic counsellor, Jackie Boyle or Project lead Dr Tracy Dudding-Byth. See FaceMatch Invitation for contact specifics.