Genetics & Genomics

Michelle Southard-Smith, PhD, and graduate student Joseph Benthal. (photo by Susan Urmy)
August 6, 2025

Clues offer new hope for treating GI tract disorders

Hirschsprung disease is a congenital disorder that occurs in approximately 1 in 5,000 babies. Caused by a lack of ENS neurons in the muscles of the colon, Hirschsprung disease disrupts gut motility, resulting in bowel obstruction.

By Bill Snyder
July 28, 2025

Large-scale study uncovers 57 genetic hotspots into stuttering origins

The video is produced by the research team to explain the results of the study. Findings from the largest genetic analysis of stuttering are published in Nature Genetics; they point to 48 genes associated with stuttering and highlight neurological pathways of risk.

By Leigh MacMillan
July 15, 2025

Multidisciplinary study develops tools for new ‘genomics of interorgan communication’

The research characterizes the molecular “cargo” of circulating extracellular vesicles in obesity and links the findings to human genetic approaches to identify potential therapeutic targets for metabolic disease.

By Leigh MacMillan
July 1, 2025

New lab for transplant, other specialized testing launches at Vanderbilt Medical Laboratories

The new Histocompatibility and Immunogenetics Laboratory launched its first phase of testing June 26 and ultimately will fully support clinical testing for the Vanderbilt Transplant Center, the nation’s third busiest transplant center by volume.

By Leigh MacMillan
(iStock image)
June 23, 2025

Low blood cell counts drive cancer in explosive blood disorder: study

The analysis of genetic sequencing data from more than 34,000 people over a 17-year period by researchers at VUMC was published in eClinicalMedicine.

By Bill Snyder
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
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
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
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