When a three-year-old boy presented to the Sydney Children’s Hospital with a life-threatening inflammatory lung disease and a history of other infections, clinician Dr Paul Gray suspected he may have a genetic syndrome. He arranged for the patient’s genome to be sequenced and a never- seen-before variant in a gene called STING was found.

This was unexpected, because mutations in STING are known to cause uncontrolled production of inflammatory molecules and were not known to be associated with infection.

Dr Gray reached out to the Institute’s Associate Professor Seth Masters, whose laboratory examined the function of the mutation and gene expression in cells from the patient.

Associate Professor Masters said it was clear there was an over-production of the inflammatory pathways regulated by STING that essentially put the patient’s immune system into overdrive.

“We agreed that an immunosuppressant agent to dampen this activity would be the best treatment approach,” he said. “We worked extremely fast to get this new information to the clinicians within days of them contacting us.”

Dr Gray said the young patient was given an immunosuppressant drug called a JAK inhibitor and his condition immediately improved.

“It was truly exciting to be part of that increasingly common fusion of clinical medicine and clever science happening in real time to bring better patient outcomes.”

Associate Professor Masters said genetics and molecular biology had helped alter the treatment course for the patient, and potentially saved his life.

“The next time we see this mutation we will know exactly what to do, hopefully preventing children from getting to a point where their life is at risk,” he said.