Division of Medical Genetics and Genomic Medicine Archive

September 5, 2025

AI tools could shorten ‘diagnostic odyssey’ for patients with rare diseases

Large language models achieved diagnostic rates of 13.3% and 10.0%, compared to the historical clinical review rate of 5.6%, and they suggested next steps to evaluate the suggested diagnoses.

By Leigh MacMillan
June 22, 2023

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.

By Leigh MacMillan
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
genetic sequence
September 1, 2021

Initiative helps physicians interpret genetic test results

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.

By Nancy Humphrey
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.
April 15, 2021

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.

By Nancy Humphrey
January 25, 2021

An interacting factor in leukemia

A blood stem cell protein plays a role in the initiation and progression of leukemia, Vanderbilt researchers have found.

By Anivarya Kumar