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 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

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.

Counselors guide patients in interpreting genetic tests

Certified genetic counselors (CGCs) are among the first faces that patients see once accepted into Vanderbilt’s Undiagnosed Diseases Network (UDN) where hopefully they will gain a diagnosis.