It’s only natural to want to compare Dr. Wendy Chung to TV’s most famous diagnostics genius: Dr. Gregory House.
Even though the controversial character isn’t known for playing by the rules and can often make medical professionals cringe, Chung admits there are some similarities.
“We are medical detectives,” Chung said in a recent Wall Street Journal report.
Chung, a 48-year-old geneticist and pediatrician, has in fact been uniquely successful at catching medical culprits. So far, Chung has diagnosed 28 new diseases. She heads the Discover program at New York Presbyterian/ Columbia University Medical Center, which specializes in undiagnosed illnesses. For many of the program’s patients, who have ailments that have baffled other doctors, Chung’s team could be their last hope.
(Image credit: screen grab from Discover program video)
Most of Chung’s breakthroughs involve rare, genetic, pediatric conditions. Two of the program’s patients, for example, are a set of twins who were slowly wasting away because their bodies couldn’t absorb certain nutrients, but have now been diagnosed and are healthy.
Chung has also figured out that having a short stature and a deficiency in an enzyme called transketolase can be a rare cause of congenital heart disease, and that mutations in the KCNK3 gene can cause a rare type of pulmonary hypertension.
Chung’s approach to diagnostics involves gene-editing technology that she uses to reproduce the genetic mutations in mice that are associated with her patients’ diseases. The method allows her team to test possible treatments and cures.
Despite the program’s landmark achievements, success often eludes the team. Chung has seen hundreds of patients, but estimates that she reaches a diagnosis just one-third of the time — and fewer than 10 patients have been fully cured.
For that reason, Chung’s team is realistic with families about the odds of reaching a diagnosis. And even when a disease is found, it’s just the beginning of the quest to find a treatment and make the patient better.
“It’s a journey,” Chung says. “We’re just not stopping when we have an answer of what the gene is and the diagnosis is.”
