Undiagnosed Diseases Network

Mosaicism and genetic disease

Genetic mosaicism — when the body’s cells do not all have the same genetic makeup — could generate variants previously thought to be spontaneous in genetic disease, and detecting parental mosaicism could clarify recurrence risk for future children.

VUMC named a NORD rare disorders center of excellence

Members of the Vanderbilt Undiagnosed Diseases Program include (front row, from left) Mary Kuziura, DNP, Anna Bican, John Fahrenholz, MD, Kevin Byram, MD, Lisa Bastarache, MS, (back row, from left) Joy Cogan, PhD, John Phillips III, MD, and Rizwan Hamid, MD, PhD.

VUMC offers new program for undiagnosed diseases

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.

Undiagnosed Diseases Network continues to excel despite pandemic

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.

When it comes to patients’ medical mysteries, the VUMC Undiagnosed Diseases Network team is on the case

Young Mady Krauter, right, and her family — sister, Ali, and parents Brent and Kim — have been on a diagnosis journey with the Vanderbilt Undiagnosed Diseases Network.

Undiagnosed Diseases Network helps guide girl’s medical journey

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.