gene mutation

May 18, 2023

New view of mutations informs disease risk, treatment response

A transcontinental research effort led by scientists from Vanderbilt University Medical Center and the University of Michigan has upended some long-standing assumptions about mutations — how often they occur, what causes them and what they do.

By Bill Snyder
January 6, 2023

Early effects of Huntington disease

Impairments in brain executive function happen earlier than motor symptoms in people with the gene mutation that causes Huntington disease, suggesting younger ages and cognitive symptoms be considered for any future clinical trials.

By Kelsey Pinckard
November 7, 2022

Gene mutations impair gut barrier

Mutations in a cell membrane transporter protein impair the integrity of the gut lining, contributing to chronic gastrointestinal distress for people with the mutations, Vanderbilt researchers report.

By Kelsey Pinckard
April 15, 2021

Arrhythmia culprit: supertrafficking ion channel

Charles Sanders, PhD, and colleagues show how a “supertrafficking” mutant potassium channel contributes to heart rhythm abnormalities.

By Leigh MacMillan
February 18, 2021

Genetic clues in eye birth defect

Sabine Fuhrmann and colleagues have discovered a novel underlying cause of coloboma — a birth defect that causes missing tissue in the eye and accounts for up to 10% of childhood blindness.

By Leigh MacMillan
September 7, 2020

Possible key to COVID-19 infectivity

New findings demonstrate how genetic variations in the receptor that binds SARS-CoV-2 impact virus recognition and infectivity and offer insights to COVID-19 susceptibility and treatment.

By Sarah E. Glass
June 22, 2020

Single mutation causes seizure disorder

A single mutation in one gene can impair inhibitory signaling in the brain and cause multiple types of seizures and behavioral abnormalities.
By Leigh MacMillan
February 28, 2019

Novel DNA repair mechanism preserves genome integrity: study

Biochemistry investigators at Vanderbilt have discovered a new DNA repair mechanism that prevents gene mutations during DNA replication.
By Leigh MacMillan
July 3, 2017

NOTCH1 role in heart development

The identification of a genetic culprit for hypoplastic left heart syndrome could lead to new treatments for the condition.
By VUMC News and Communications
March 3, 2017

Mutation raises heart block risk

A newly identified genetic risk factor for heart block after surgery may help guide the course of postoperative care.
By Laura Daniel
February 2, 2017

Gene mutation discovery may hold autism clues: study

Researchers at Vanderbilt have identified what may be a genetic “smoking gun” for autism spectrum disorder (ASD) — a mutation in the gene for the critical neuronal protein CaMKII.
By Bill Snyder
September 9, 2016

In search of new cancer targets

Vanderbilt researchers developed a new algorithm to find clinically targetable gene rearrangements in cancers.
By Leigh MacMillan
June 9, 2016

Landmark report urges caution before releasing gene drive-modified organisms

A new report released this week raises questions about “gene drives,” a biological process that can profoundly and rapidly alter the characteristics of entire species.
By Bill Snyder