gene mutation Archives
New view of mutations informs disease risk, treatment response
May. 18, 2023—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.
Early effects of Huntington disease
Jan. 6, 2023—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.
Gene mutations impair gut barrier
Nov. 7, 2022—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.
Arrhythmia culprit: supertrafficking ion channel
Apr. 15, 2021—Charles Sanders, PhD, and colleagues show how a “supertrafficking” mutant potassium channel contributes to heart rhythm abnormalities.
Genetic clues in eye birth defect
Feb. 18, 2021—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.
Possible key to COVID-19 infectivity
Sep. 7, 2020—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.
Single mutation causes seizure disorder
Jun. 22, 2020—A single mutation in one gene can impair inhibitory signaling in the brain and cause multiple types of seizures and behavioral abnormalities.
Novel DNA repair mechanism preserves genome integrity: study
Feb. 28, 2019—Biochemistry investigators at Vanderbilt have discovered a new DNA repair mechanism that prevents gene mutations during DNA replication.
NOTCH1 role in heart development
Jul. 3, 2017—The identification of a genetic culprit for hypoplastic left heart syndrome could lead to new treatments for the condition.
Mutation raises heart block risk
Mar. 3, 2017—A newly identified genetic risk factor for heart block after surgery may help guide the course of postoperative care.
Gene mutation discovery may hold autism clues: study
Feb. 2, 2017—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.
In search of new cancer targets
Sep. 9, 2016—Vanderbilt researchers developed a new algorithm to find clinically targetable gene rearrangements in cancers.