# Stellenbosch University researchers, led by Shahida Moosa, are using Artificial Intelligence and machine learning to diagnose ultra-rare genetic disorders. Combining facial analysis with exome sequencing, their approach achieved a 51-percent diagnostic yield in their first 100-patients. The initiative aims to expand across Africa, addressing underrepresentation in global datasets. The team is building local capacity in genomics, with tools made accessible to non-profits, bringing precision medicine closer to underserved communities.
Stellenbosch pioneers AI diagnosis for rare diseases in Africa