Finding Hidden Signs of Rare Genetic Diseases

Researchers get to the root cause of patients’ symptoms


To help identify rare genetic variants and treat patients with more precision, researchers at Vanderbilt created risk scores to analyze phenotype information in more than 20,000 patient charts. They mapped certain combinations of symptoms, which physicians might consider unrelated, to corresponding genetic diseases. This mapping helped them diagnose patients’ genetic diseases that would have otherwise been missed.

“We started with a simple idea: look for a cluster of symptoms and diseases to find an undiagnosed underlying disease,” says Dr. Josh Denny, a professor of biomedical informatics and medicine and the director of Vanderbilt’s Center for Precision Medicine. “We got really excited when we saw how we could systematize it across thousands of genetic diseases to figure out the impact of millions of genetic variants.”

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