Genetics & Genomics Archive — Page 4 of 16

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.

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.

Sleeping newborn baby lying on their side on a bed, with one arm bent near the face and soft natural light falling across the scene.
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

Illustration of a doctor pointing toward a magnified view of a uterus containing a cluster of rounded growths, with an exclamation mark, speech bubble, and DNA symbol suggesting uterine fibroids and related medical research.
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.

Colorful DNA model beside a white analog bathroom scale holding a green apple.
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.

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.