GBi5S: Eine künstliche Intelligenz zur Beurteilung medizinischer Bilddaten von Patienten mit seltenen Erkrankungen (GestaltMatcher)

The GBi5S project aimed to further develop GestaltMatcher, an artificial intelligence-based method for analysing facial phenotypes in rare genetic disorders, towards broader translational and clinical use. During the funding period, a mobile application for iOS and Android, a pilot service within the GestaltMatcher Database, and an on-premise service model for clinical institutions handling sensitive patient data were developed. The database was expanded to include more than 15,000 patient images representing approximately 1,000 disorders. By June 2025, the pilot service had reached 2,004 users and enabled more than 100,000 analyses. In addition, 35 letters of intent were obtained from international partners, and an external freedom-to-operate analysis was conducted, which identified no apparent risk of direct patent infringement based on the intellectual property rights considered most relevant. Overall, the project substantially strengthened the translational maturity, clinical visibility, and strategic positioning of GestaltMatcher.