undiagnosed diseases

Liz and John Potocsnak, second and third from left, with Jeff Balser, MD, PhD, left, Rizwan Hamid, MD, PhD, and Jennifer Pietenpol, PhD.
February 2, 2023

Potocsnak family’s transformative gift creates Center for Undiagnosed and Rare Disorders

A transformative gift from the Potocsnak family has established the Potocsnak Center for Undiagnosed and Rare Disorders at Vanderbilt University Medical Center.

By Nancy Humphrey
October 13, 2022

Study to search EHR for undiagnosed genetic diseases

A team at Vanderbilt University Medical Center will explore computational solutions to help address the problem of missed or delayed diagnosis for patients with rare genetic diseases.

By Paul Govern
June 3, 2021

Predictive model identifies patients for genetic testing

Patients who, perhaps unbeknownst to their health care providers, are in need of genetic testing for rare undiagnosed diseases can be identified en masse based on routine information in electronic health records (EHRs), a research team reported June 3 in the journal Nature Medicine.

By Paul Govern