gene mutation Archive — Page 1 of 2

Portrait of Alexander Bick, MD, PhD, wearing a white medical coat and dark blue tie against a dark background.
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
Stylized side-profile illustration of a human head with the skull rendered translucent to reveal a network resembling brain blood vessels, dissolving into particles against a peach background.
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
3D histological illustration of a row of tall columnar epithelial cells, with elongated nuclei and a brush-like apical surface above a purple underlying layer.
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
Close-up of an eye with a keyhole-shaped dark pupil extending downward into the iris.
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
Illustration of red, spiky virus particles surrounded by numerous white Y-shaped antibodies on a textured surface.
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