Using AI to Diagnose Rare Diseases

Published: Wednesday, April 24, 2024

More than 30 million Americans live with a rare disease. For these patients, effective treatment requires an accurate diagnosis, but that’s easier said than done. David D’Onofrio, a postbaccalaureate research fellow in the Intramural Research Program at the National Institutes of Health, is creating computer programs that use artificial intelligence to help find the rare mutations responsible for patients’ symptoms. With more advanced software tools like his at their disposal, doctors can more quickly diagnose patients and figure out the best treatment for their unique conditions.

Click here to learn more about the research being done in David’s lab.

Interested in finding out for yourself what it’s like to do research at NIH? Check out our training opportunities to learn about the IRP’s programs for students, recent graduates, and postdoctoral fellows.

Still hungry for more SciBites? Watch more.