DISCOVER: A Journey Toward Help

Living with an undiagnosed disorder can be both frightening and exhausting.
By

Avichai Assouline

DISCOVER—Diagnosis Initiative: Seeking Care and Opportunities with Vision for Exploration and Research—is a unique center at Columbia. The program is designed to diagnose rare and complex diseases and to develop novel and individualized treatments for patients. 

“We are doing medical detective work by using genetic and genomic tools,” says Wendy Chung, MD, PhD, director of DISCOVER and the Kennedy Family Professor of Pediatrics (in Medicine). 

The program sees about three to four patients a week, most of them children. In addition to Dr. Chung, the program’s case management team includes a physician, coordinator, genetic counselor, social worker, and nurse practitioner. The team also works with about 50 specialists throughout the medical center.

The case management team searches for a diagnosis by combing through each patient’s medical records and test results, which are usually extensive. Patients then see between five and 10 specialists over one to two days and get any tests that have not been done yet. If the team diagnoses the patient with a known disease, the patient is linked to the relevant specialists. 

If the patient has a rare disease with no known standard of care, the team will enroll the patient in research to further characterize the condition. In some cases, DISCOVER uses gene-editing technology to reproduce in cell lines or mice the genetic mutations associated with the patient’s disease to test for possible treatments. 

This continued study of patients who have no known disease has resulted in the discovery of more than 30 rare diseases. 

“It’s a journey,” says Dr. Chung. “For some patients, we make a diagnosis in 14 days. In others, we find it a year after they’ve seen me, because we go back and look again. I’ve had some patients for 15 years, and we’re only now figuring out what’s wrong. If the reason for a disease is genetic, it’s likely we will eventually find it.”

The DISCOVER program can be reached by calling 212-342-4622 or visiting the program’s website at www.cumc.columbia.edu/discover.