Medical Xpress July 31, 2024
Diagnosing the genetic cause of a disease can aid in finding therapies and directing treatment, but often these diagnoses occur long after the disease has impacted a patient’s life. In a new study, researchers from Children’s Hospital of Philadelphia (CHOP) used machine learning and artificial intelligence to comb through medical records and use clinical notes to match symptoms with specific genetic epilepsies. The results of their study could significantly improve the time to diagnosis and treatment.
The findings were recently published in the journal Genetics in Medicine.
More than 100 epilepsies caused by a single gene mutation have been identified, with several therapies being designed to target the genes responsible for these epilepsies. However, genetic testing can take a long...
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