genetic variant Archives
Gene tied to childhood epilepsy
Oct. 6, 2022—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.
VUMC leads effort to map heart disease-causing genetic variations
Sep. 13, 2022—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.
Genotype-specific blood counts
Aug. 11, 2022—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.
Cell-free breast cancer “biopsy”
Aug. 11, 2022—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.
Preempting sudden cardiac death
Jul. 7, 2022—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.
Gene variants and transplant drug dose
May. 9, 2022—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.
Study links genetic variants, protein expression and human diseases
Oct. 21, 2021—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.
Gene variant linked to unnecessary bone marrow biopsies in African Americans
Jun. 28, 2021—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.
New neurodegeneration culprit
Jun. 17, 2021—A young woman with a puzzling neurological illness and novel genetic variant pointed investigators to a role for dysregulated protein kinase D1 in neurodegeneration.
Gene variant and glucose metabolism
Feb. 18, 2021—Genetic variation that impacts glucose- and insulin-related signaling affects responses to type 2 diabetes treatments and warrants further study.
Tailoring treatment for heart defect
Sep. 23, 2019—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.
Cancer susceptibility genes
Aug. 26, 2019—Gene variants associated with cancer risk appear to contribute to carcinogenesis by regulating target genes that in turn promote the generation of mutations.
