Speeding the Diagnosis of Rare Genetic Disorders with the Help of Artificial Intelligence Posted on May 16th, 2024 by Dr. Monica M. Bertagnolli

https://directorsblog.nih.gov/2024/05/16/speeding-the-diagnosis-of-rare-genetic-disorders-with-the-help-of-artificial-intelligence/ Millions of children around the world are born each year with severe genetic disorders. Many of these are Mendelian disorders, which are rare genetic conditions caused by mutations in a single gene. But pinpointing the specific gene responsible for a disorder to get a clear diagnosis for an individual can be labor-intensive, and reanalysis of undiagnosed cases is also difficult. As a result, only about 30% of people with a rare genetic disorder get a definitive diagnosis, and on average, it takes 6 years from symptom onset to diagnosis. Progress is needed to get accurate diagnoses to individuals and families more often and faster, and to create more efficient ways to update genetic diagnoses as new discoveries are made. As an important step in this direction, a team funded in part by NIH has developed a new artificial intelligence (AI) system called AI-MARRVEL (AI-Model organism Aggregated Resources for Rare Variant ExpLoration).