Gene Mutation
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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. Read MoreMay 18, 2023
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Arrhythmia culprit: supertrafficking ion channel
Charles Sanders, PhD, and colleagues show how a “supertrafficking” mutant potassium channel contributes to heart rhythm abnormalities. Read MoreApr 15, 2021
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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. Read MoreFeb 18, 2021
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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. Read MoreSep 7, 2020
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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. Read MoreJun 22, 2020
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NOTCH1 role in heart development
The identification of a genetic culprit for hypoplastic left heart syndrome could lead to new treatments for the condition. Read MoreJul 3, 2017
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Mutation raises heart block risk
A newly identified genetic risk factor for heart block after surgery may help guide the course of postoperative care. Read MoreMar 3, 2017
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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. Read MoreFeb 2, 2017
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In search of new cancer targets
Vanderbilt researchers developed a new algorithm to find clinically targetable gene rearrangements in cancers. Read MoreSep 9, 2016
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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. Read MoreJun 9, 2016
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A “CRISPR” way to study disease
Using revolutionary CRISPR technology, Vanderbilt investigators have developed a fast and simple method to simultaneously turn off multiple genes in order to study complex diseases. Read MoreJun 11, 2015
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Genome-editing pioneer next up in Discovery Lecture series
Jennifer Doudna, Ph.D., recipient of a 2015 Breakthrough Prize in Life Sciences, will deliver the next Flexner Discovery Lecture on Thursday, Jan. 8. Read MoreJan 2, 2015
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Schizophrenia ‘switches’ discovered
Drugs developed at Vanderbilt could provide a new way to treat schizophrenia in a personalized way. Read MoreSep 12, 2014
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New technique accelerates genome editing process
It sounds like a potato chip. But CRISPR is actually the acronym for a new genome editing technique that, by many accounts, is accelerating the study of genes and disease. Read MoreAug 21, 2014
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VU study sheds new light on DNA replication
David Cortez, Ph.D., and his Vanderbilt colleagues report new findings that shed light on fundamental processes involved in DNA replication and have implications for cancer therapies that target these processes. Read MoreNov 7, 2013
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VU study identifies DNA changes in drug-resistant cancer cells
Vanderbilt investigators have combined next-generation sequencing technologies and bioinformatics analyses to screen for genome-wide genetic mutations associated with drug resistance in a series of lung cancer cell lines. Read MoreSep 12, 2013
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Insights on glaucoma gene mutations
Glaucoma-causing mutations in the gene for myocilin reduce secretion of the protein into the aqueous humor, suggesting a new option for treatment. Read MoreJun 26, 2013
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Gene regulation found to play role in pulmonary hypertension
New findings from Vanderbilt researchers may explain why only some individuals who have inherited mutations that increase risk for pulmonary hypertension actually develop the disease. Read MoreOct 18, 2012