Genetics & Genomics

From left, graduate student Taylor Nagai, Ela Knapik, MD, senior research scientist Dharmendra Choudhary, PhD, and research assistant Cory Guthrie in Knapik’s lab surrounded by tanks of zebrafish, the model organism that drives their research. (photo by Erin O. Smith)
June 12, 2025

Tiny zebrafish aid discovery of rare, fatal genetic disease

The children were born in Turkey with a smaller-than-normal head size, cataracts, severe developmental delay, intellectual disability and epilepsy.

By Bill Snyder
Jill Simmons, MD, and John Shelley found that adding a genetic measure of height to the evaluation of children with short stature might improve diagnosis and clinical outcomes. (photo by Erin O. Smith)
April 25, 2025

Polygenic score for height could improve diagnosis for children with short stature: study

Even after comprehensive testing, about 30% of children with short stature — height below the third percentile on a growth chart — do not have a definitive diagnosis, leading to extended surveillance, testing and anxiety.

By Leigh MacMillan
April 4, 2025

Study details genetic architecture of congenital diarrheal disorders in infants

The findings represent a significant advance toward development of more effective, targeted therapies for congenital diarrhea and enteropathies

By Bill Snyder
April 2, 2025

New gene discoveries target uterine fibroids

The research is another step toward development of targeted therapies aimed at reducing the incidence and medical burden of this common condition.

By Bill Snyder
April 1, 2025

Integrative approach reveals key inflammatory drivers of severe obesity

Severe obesity — a condition of being 100 pounds or more overweight — has doubled in the United States over the past two decades to 9.2%, with the greatest increases among women and Latino populations.

By Leigh MacMillan
Jennifer (Piper) Below, PhD. (photo by Erin O. Smith)
March 19, 2025

Jennifer Below named director of Vanderbilt Genetics Institute

The Vanderbilt Genetics Institute is the intellectual hub for genomics research at Vanderbilt University Medical Center and Vanderbilt University.

By John Howser
March 19, 2025

Alliance for Genomic Discovery completes 250,000 whole genomes to accelerate drug discovery

The milestone creates one of the largest, most comprehensive clinical genomic datasets of its kind; multiomic data to be added in next phase of program.
By VUMC News and Communications
March 10, 2025

Evolution, genomics and disease: a very special Discovery Lecture

Sarah Tishkoff described her groundbreaking research during a talk titled “African Evolutionary Genomics: Reconstructing Human Evolution and the Genetic Basis of Complex Adaptive Traits.”
By Bill Snyder
February 13, 2025

Vanderbilt Prize winner to discuss ‘evolutionary genomics’ on March 6

Tishkoff's groundbreaking research at the University of Pennsylvania has broad implications for understanding and treating human disease.
By Bill Snyder
February 3, 2025

VUMC study takes closer look at how pulmonary fibrosis unfolds

The research could point to future therapeutic strategies that treat PF patients based on their individual stage of cellular and molecular remodeling.
By Nancy Humphrey
January 15, 2025

Study in multiancestry populations uncovers new insights into breast cancer genetics 

The study identified 332 independent association signals for breast cancer risk, including 131 signals not previously reported.
By Tom Wilemon
January 15, 2025

Alzheimer’s study details abnormal gene expression tied to blood vessel growth

The study sets out how gene expression that drives the formation of new blood vessels exhibits different patterns, cell by cell, in the brains of people with Alzheimer's disease.
By Paul Govern
December 19, 2024

Proteomic signature a key to early detection of fatty liver disease: study

Currently, methods to detect early, obesity-related accumulation of fat in the liver other than a liver biopsy — the surgical removal of liver tissue for microscopic examination — are limited. But there is hope.
By Bill Snyder