Division of Medical Genetics and Genomic Medicine

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
November 4, 2021

VUMC named a NORD rare disorders center of excellence

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
March 12, 2020

Diagnostic testing for genetic disorders now available on site

Vanderbilt University Medical Center has opened a Clinical Genomics Laboratory to provide diagnostic testing for genetic disorders.
By Leigh MacMillan
September 4, 2019

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

By Nancy Humphrey
August 22, 2019

Master of Genetic Counseling program debuts inaugural class

Vanderbilt University School of Medicine has welcomed its first class of students seeking a Master of Genetic Counseling (MGC) degree.
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
September 27, 2018

VUMC’s Undiagnosed Diseases Network site gains NIH renewal

By Nancy Humphrey
March 2, 2017

UDN program dedicated to solving medical mysteries

It’s human nature to need answers. Patients with debilitating symptoms need a diagnosis — somewhere to place the blame, a starting point to search for answers.
By Nancy Humphrey
October 13, 2016

Hamid named to lead Division of Pediatric Genetics

Rizwan Hamid, M.D., Ph.D., associate professor of Pediatrics at Vanderbilt University, has been named chief of the Division of Pediatric Genetics and Genomic Medicine, effective Jan. 1, 2017.
By Nancy Humphrey
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