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.

A new institutional initiative will offer a secure and easy way for physicians at Vanderbilt University Medical Center to ask for help interpreting genetic test results for their patients.

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.

Vanderbilt University Medical Center, an original member institution of the National Institutes of Health’s Undiagnosed Diseases Network, (UDN) is launching its own program, the Vanderbilt Undiagnosed Diseases Program (VUDP), which will operate alongside the UDN. The VUDP goal is to expand services to many more patients who are living with the often-dire consequences of an undiagnosed disease.

Though the COVID-19 pandemic halted in-person patient visits at Undiagnosed Diseases Network (UDN) sites, including Vanderbilt University Medical Center’s, since March, groundbreaking behind-the-scenes work continues.

On July 6, 2017, the Krauter family of Hiawatha, Kansas, received a belated 4th birthday present for their younger daughter, Mady — a diagnosis for a host of worsening neurological symptoms that they first noticed when she was 3 months old.