How artificial intelligence can help detect rare diseases: Researchers show that using portrait photos in combination with genetic and patient data improves diagnoses

Many patients with rare diseases go through lengthy trials and tribulations until they are correctly diagnosed. "This results in a loss of valuable time that is actually needed for early therapy in order to avert progressive damage," explains Prof. Dr. med. Together with an international team of researchers, he demonstrates how artificial intelligence can be used to make comparatively quick and reliable diagnoses in facial analysis. The researchers used data of 679 patients with 105 different diseases caused by the change in a single gene. These include, for example, mucopolysaccharidosis (MPS), which leads to bone deformation, learning difficulties and stunted growth.