Genetic testing aids medical diagnosis

Genetic study helps expert get to the bottom of unexplained medical conditions in 30 persons

One patient suffering from severe medical conditions for years has provided a diagnosis for 30 people whose similar conditions also remained undiagnosed despite numerous tests, thus solving a medical mystery.

An international team of researchers provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing.

The study, conducted by researchers at Baylor College of Medicine, National University of Singapore and collaborating institutions worldwide, appeared in the journal Genetics in Medicine.

The patient presented an uncommon combination of problems. The patient had severe developmental conditions, epilepsy and complete insensitivity to pain, which was very atypical.