Innovative UW Undiagnosed Genetic Disease Clinic seeks to identify rare genetic conditions

The UW Center for Human Genomics and Precision Medicine at the UW School of Medicine and Public Health recently opened its first patient clinic, the UW Undiagnosed Genetic Disease Clinic at the Waisman Center. The clinic, one of 11 specialty clinics at the Waisman Center, is for people with undiagnosed genetic diseases, creating a vital local hub in a global community of experts dedicated to solving medical mysteries with state-of-the-art technologies for people whose conditions remain undiagnosed despite an extensive prior clinical workup.

Inside Waisman: Meet Lindsay McCary

As a third year graduate student in school psychology at the University of South Carolina, Lindsay McCary, PhD, was looking for a new advisor to help her with her dissertation. At the time, Jane Roberts, PhD, had just joined the Department of Psychology and had some data available on younger children with the genetic disorder fragile X syndrome (FXS). McCary was immediately fascinated by the new professor’s research because it integrated both behavioral and physiological data to examine an individual’s observable characteristics.

The ECHO Effect

Project ECHO (the mantra for which is “All teach, all learn”) uses video-conferencing technology to provide education and case consultation on best practice clinical services, training, and resources for individuals with specific healthcare needs that are difficult to meet locally. The Waisman Center ECHO platform will serve as a diagnostic and treatment training hub to share the center’s expertise on intellectual and developmental disabilities, such as autism, Down syndrome, and cerebral palsy, throughout the state and beyond.