GestaltMatcher

GestaltMatcher uses advanced AI technology to analyze medical images and identify facial features that may indicate rare genetic disorders. Our platform supports healthcare professionals by detecting phenotypic anomalies associated with specific rare conditions. This way, it can suggest suitable genetic tests to confirm diagnoses. Rare diseases affect over 30 million people in Europe, with 72% of the 6,000 known diseases being genetically determined. On average, patients wait five years for a diagnosis due to the rarity of each condition and limited medical expertise. GestaltMatcher not only helps initiate genetic tests but also advances the understanding of previously unknown rare disorders. Our AI is trained on the curated GestaltMatcher Database (GMDB), maintained by the non-profit AGD (Arbeitsgemeinschaft für Genom-Diagnostik e.V.), which fosters collaboration between research and clinical practice. Our mission: To work with healthcare professionals to accelerate diagnoses and improve care for patients with rare genetic disorders, enhancing their quality of life.