I

t 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.

This is a STAT Plus article and you can unlock it by subscribing to STAT Plus today. It's easy! Your first 30 days are free and if you don't enjoy your subscription you can cancel any time.
Already a subscriber? Log in here.

Leave a Comment

Please enter your name.
Please enter a comment.

Sign up for our Morning Rounds newsletter

Your daily dose of news in health and medicine.

X