Rare Disease Institute

Down syndrome, the most common single cause of human birth defects, produces alterations in physical growth and intellectual disabilities. If missed before birth, the early detection of Down syndrome is crucial for the management of patients and disease. However, the diagnostic accuracy for pediatricians prior to cytogenetic results is moderate and the access to specialists is limited in many social and low-economic areas.

Researchers at the Sheikh Zayed Institute and clinicians at the Rare Disease Institute are developing a simple, non-invasive and automated framework for Down syndrome detection based on disease-specific facial patterns. This method has currently been validated in a pre-clinical setting, on a dataset with mixed genetic syndromes. A clinical trial is open for recruitment to further validate the concept.