It was exactly the kind of medical mystery that has yielded to genome sequencing. From age 7, Ricky Ramon’s body had sprouted tumor after (non-cancerous) tumor: in his heart and his pituitary gland, his adrenal glands and his thyroid. Those symptoms seemed to fit a rare genetic disease called Carney complex, which is caused by mutations in the PRKAR1A gene on chromosome 17. But standard DNA sequencing found no disease-causing glitches there or anywhere.
When Ricky was 25, however, researchers at the Stanford University School of Medicine used a cutting-edge technology called long-read sequencing to crack the case. It is the first time that long read, whole genome sequencing has been used to diagnose a patient, Stanford genetics professor Dr. Euan Ashley and his colleagues reported on Thursday in the journal Genetics in Medicine.