American Journal of Human Genetics

November 15, 2023

Study finds many patients don’t seek more health services after receiving genetic screening results

A study by Vanderbilt researchers found that more than half of the patients who receive the results of genetic tests might not be impelled to seek more services than they’re already receiving.

By Paul Govern
August 31, 2023

New reference tool supports replication of DNA biobank studies

Vanderbilt researchers created a phenotype-genotype reference map to assess data quality in DNA biobanks.

By Paul Govern
February 16, 2023

Breast cancer genetics: new insights

Largest genetic study of breast cancer to date identifies 222 genetic risk loci, 137 genes and multiple signaling pathways associated with risk, providing important new insights.

By Leigh MacMillan
July 7, 2022

Preempting sudden cardiac death

A technique to characterize all variants in genes associated with arrhythmia could improve the ability to identify and preemptively treat individuals at risk for sudden cardiac death.

By Bill Snyder
December 2, 2021

Gene discoveries give new hope to people who stutter

New research shows the potential to identify therapeutic directions that could improve outcomes for people who stutter.

By Bill Snyder
Pneumonia bacteria
January 21, 2021

Study finds genetic clues to pneumonia risk and COVID-19 disparities

Researchers at Vanderbilt University Medical Center and colleagues have identified genetic factors that increase the risk for developing pneumonia and its severe, life-threatening consequences.

By Bill Snyder
October 1, 2020

Genes spell penicillin allergy risk

Studies using large DNA biobanks revealed genetic variants associated with penicillin allergy, the most common type of drug-induced allergic reaction.
By Paul Govern
June 12, 2020

Robotic technology speeds arrhythmia gene classification

Vanderbilt University Medical Center investigators have used high-throughput robotic technology to rapidly study and classify variations in a gene linked to heart rhythm disorders and cardiac conditions.
By Leigh MacMillan
August 26, 2019

Cancer susceptibility genes

Gene variants associated with cancer risk appear to contribute to carcinogenesis by regulating target genes that in turn promote the generation of mutations.
By Leigh MacMillan
April 24, 2019

Study merges big data and zebrafish biology to reveal mechanisms of human disease

In a series of studies that volleyed between large databases and research in zebrafish, Vanderbilt investigators have discovered a link between vascular biology and eye disease.
By Leigh MacMillan
May 4, 2018

New breast cancer targets

A special genetic analysis has revealed candidate genes associated with increased risk of breast cancer.
By Bill Snyder
January 12, 2017

Investigators apply game theory to study of genomic privacy

It comes down to privacy — biomedical research can’t proceed without human genomic data sharing, and genomic data sharing can’t proceed without some reasonable level of assurance that de-identified data from patients and other research participants will stay de-identified after they’re released for research.
By Paul Govern
March 17, 2016

Study explores gene’s role in protecting HIV patients from TB

An international research team led by scientists from Vanderbilt University Medical Center has identified a genetic variant that protects people with HIV from developing active tuberculosis. The variant is near the gene encoding the infection-fighting cytokine IL-12.
By Bill Snyder
1 2