A Gene Hunter Reaches Beyond Discovery

In the world of rare disease, the names of many researchers have lived beyond their own lives by becoming attached to the disease they’ve discovered. In such cases, the discovery of a single disease can be the achievement of a lifetime. Wendy Chung and her lab have discovered 39 genetic disease and counting.

Chung, a medical and molecular geneticist and professor of pediatrics and medicine at Columbia University and New York-Presbyterian Hospital, is director of the clinical genetics program at Columbia University. Her research lab investigates the genetic basis for a variety of Mendelian conditions and complex traits. And while Chung sticks to the name of the associated genes to identify the rare conditions she discovers, people have come to refer to a number of the conditions identified by her lab by naming them after Chung and other researchers there, such as in the case of the neurodevelopmental syndrome known as Okur-Chung.

Chung’s gene hunting prowess in part reflects the radical change in the development of technologies to identify genetic mutations that drive diseases. “The first gene I cloned took about eight years,” said Chung. “The last one took three weeks.”

But it also reflects Chung’s tenacity and the bond she forms with patients and their families over time. Long before she had the tools necessary to crack some of the conditions she encountered, she promised patients to keep the samples she needed to find them the answers they sought. Overt time, as technology became available, she would return to unsolved cases to solve genetic puzzles, even if 20 years had passed. “I don’t give up trying to figure these out,” she said.

Chung, though, is not content with discovering rare diseases. She has also worked to treat patients and now is expanding on that with the ambition of developing new therapies and potentially cures. She is working to bring different programs already underway at Columbia under the umbrella of a newly created Center for Rare Pediatric Genetic Diseases.

At the core of the center will be two programs. The first is the DISCOVER program, an acronym for The Diagnosis Initiative: Seeking Care and Opportunities with Vision for Exploration and Research. The program, the only one of its kind in New York City, is designed to find answers for patients who may have been to a number of specialists but remain undiagnosed.

The TREATMENT Program is the other part of the core. It picks up where the DISCOVER program ends.  TREATMENT is an acronym for Targeted Research and Exploration Advancing Trial Models, Editing, and Next-generation Therapies.

Together, the programs will enable the center to not only diagnose and study rare genetic diseases but develop potential treatments and serve as a research center to conduct clinical trials. The plan is to leverage a scientific core that can be used to study and develop treatments across the spectrum of genetic disease. The effort also seeks to establish Columbia University Medical Center as a destination for patients with rare genetic disorders and make it a partner of choice for the National Institutes of Health, biopharmaceutical companies, and private foundations focused on rare diseases.

Though Chung and her team have plenty of work to start with given the genetic diseases they have discovered, the center will have a broad mandate and hopes to engage subspecialists already affiliated with Columbia to work on diseases of interest to them.

Chung hopes to attract pharmaceutical, biotech, and other partners who may be in a better position to develop therapies and let the center facilitate that work by ensuring access to needed tissue samples, mouse models, cell lines and other things to minimize barriers to engage others to work on developing treatments. She also envisions the center serving as a place to conduct clinical trials for such therapies.

“We’re very much trying to be advocates for these rare diseases and making sure that people that are in a position to develop treatments for these conditions know about them and try to think strategically about what treatments are going to be the best for what conditions,” Chung said.

For the center to realize Chung’s vision, she has set the goal of raising $50 million to fund it during the next two to three years.

“I know it’s ambitious,” she says, “but we’ve got a lot of potential, especially given the geographic region we are in, which has a lot of patients, and a lot of individuals who also care deeply about this.”

May 9, 2018
Photo: Wendy Chung, professor of pediatrics and medicine at Columbia University and New York-Presbyterian Hospital, and director of the clinical genetics program at Columbia University