Monday, Oct 3, 2022
CIO Review
“FDNA, the leader in the early discovery of rare genetic illnesses, has discovered the first diagnosis of an ultra-rare syndrome using their photo-based GestaltMatcher technology. Dr. Himanshu Goel, a clinical geneticist in Newcastle, Australia, used the Face2Gene app’s technology to diagnose a 26-year-old patient with Chromosome 17q21.31 Duplication Syndrome, a condition that, like most ultra-rare conditions, requires a lengthy genotype/phenotype correlation analysis before diagnosis.”
This article describes how FDNA’s new AI algorithm has successfully diagnosed the first patient with an ultra-rare genetic syndrome. FDNA, a pioneer in early detection of rare genetic illnesses, has made a breakthrough diagnosis of an ultra-rare genetic syndrome using their GestaltMatcher technology. Face2Gene utilizes advanced AI to analyze facial features and identify genetic anomalies. This groundbreaking achievement demonstrates the algorithm’s capability to detect even the rarest conditions. By comparing patient photos to a vast database of known syndromes, Face2Gene provides accurate and rapid diagnostic insights. FDNA’s accomplishment highlights the transformative potential of AI in healthcare, particularly for diagnosing ultra-rare syndrome, ultimately leading to better patient outcomes and personalized treatment plans.
