undiagnosed and rare disorders

September 27, 2024

Distant relatedness in biobanks harnessed to identify undiagnosed genetic disease

VUMC researchers have developed a genetic method that clusters distantly related people to find rare variants that were present in a common ancestor.

By Leigh MacMillan
May 15, 2024

New online repository offers physicians quick guidance on care of rare disease patients

Vanderbilt University Medical Center has collaborated with Children’s National Hospital in Washington, D.C., to develop the Rare Disease Clinical Activity Protocol Program, or RareCAP, a growing online repository of clinical protocols designed to offer quick, practical guidance on the care of patients with rare diseases.

By Paul Govern
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
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
November 4, 2021

VUMC named a NORD rare disorders center of excellence

By Nancy Humphrey
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
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
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
October 8, 2020

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.
By Nancy Humphrey
September 4, 2019

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

By Nancy Humphrey
March 14, 2019

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.
By Nancy Humphrey
February 7, 2019

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.
By Nancy Humphrey
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