genetic variant

October 25, 2023

Study to explore link between salt taste sensitivity and salt intake, hypertension and genetic variations in individuals of African descent

A new study will explore the link between salt taste sensitivity and salt intake, blood pressure, hypertension, and genetic variations in individuals of African descent.

By VUMC News and Communications
October 6, 2022

Gene tied to childhood epilepsy

Data drawn from four unrelated patients with a childhood epilepsy syndrome — and from in vitro and in vivo studies — link novel variants in a GABA transporter gene to seizure activity, Vanderbilt researchers reported.

By Paul Govern
September 13, 2022

VUMC leads effort to map heart disease-causing genetic variations

Researchers from Vanderbilt University Medical Center, Stanford Medicine, the University of Toronto and Brigham and Women’s Hospital in Boston have joined forces to “map” the specific variations in more than 25 key cardiac disease genes that negatively affect heart function.

By Bill Snyder
August 11, 2022

Genotype-specific blood counts

Vanderbilt researchers report genotype-specific reference ranges to improve interpretation of laboratory blood results in African Americans with a common gene variant that lowers white blood cell counts.

By Leigh MacMillan
August 11, 2022

Cell-free breast cancer “biopsy”

The circulating DNA that tumors release is a reliable metric of tumor genomics and can be used to monitor molecular changes in metastatic breast cancer.

By Sarah E. Glass
July 7, 2022

Preempting sudden cardiac death

A technique to characterize all variants in genes associated with arrhythmia could improve the ability to identify and preemptively treat individuals at risk for sudden cardiac death.

By Bill Snyder
May 9, 2022

Gene variants and transplant drug dose

Genotyping multiple enzymes that metabolize the immunosuppressive drug tacrolimus — common used for lung transplant recipients — is important for correct dosing of the drug, Vanderbilt researchers found.
By Leigh MacMillan
October 21, 2021

Study links genetic variants, protein expression and human diseases

An international research team has developed a new resource that connects genetic variants and protein expression, which is expected to speed the identification of genes that cause disease — and point to novel treatment strategies.
By Leigh MacMillan
June 28, 2021

Gene variant linked to unnecessary bone marrow biopsies in African Americans

A gene variant that lowers white blood cell levels and is common in individuals with African ancestry contributes to unnecessary bone marrow biopsies, according to a study published June 28 in JAMA Internal Medicine.
By Leigh MacMillan
June 17, 2021

New neurodegeneration culprit

A young woman with a puzzling neurological illness and novel genetic variant pointed investigators to a role for dysregulated protein kinase D1 in neurodegeneration.
By Paul Govern
February 18, 2021

Gene variant and glucose metabolism

Genetic variation that impacts glucose- and insulin-related signaling affects responses to type 2 diabetes treatments and warrants further study.
By Leigh MacMillan
September 23, 2019

Tailoring treatment for heart defect

By defining the clinical and genetic factors that predict treatment response, Vanderbilt investigators aim to personalize therapy for a common heart complication in preterm infants.
By Leigh MacMillan
August 26, 2019

Cancer susceptibility genes

Gene variants associated with cancer risk appear to contribute to carcinogenesis by regulating target genes that in turn promote the generation of mutations.
By Leigh MacMillan
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