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gene mutation Archives

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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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In search of new cancer targets

Sep. 9, 2016—Vanderbilt researchers developed a new algorithm to find clinically targetable gene rearrangements in cancers.

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Landmark report urges caution before releasing gene drive-modified organisms

Jun. 9, 2016—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.

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A “CRISPR” way to study disease

Jun. 11, 2015—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.

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Genome-editing pioneer next up in Discovery Lecture series

Jan. 2, 2015—Jennifer Doudna, Ph.D., recipient of a 2015 Breakthrough Prize in Life Sciences, will deliver the next Flexner Discovery Lecture on Thursday, Jan. 8.

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