inherited disease Archives
A critical skin enzyme
May. 18, 2023—Detailed studies of the enzymatic properties of PNPLA1 support the requirement for this protein in skin barrier formation.
Nutrient absorption disease model
Feb. 2, 2023—Vanderbilt researchers developed a model of a patient-specific mutation to explore the pathology of microvillus inclusion disease, a genetic disorder that causes life-threatening diarrhea.
Surgery for hereditary breast cancer
Nov. 17, 2022—Similar rates of bilateral mastectomy in women with inherited mutations in high- and moderate-penetrance genes raises concerns about possible overtreatment of some patients, Vanderbilt researchers report.
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.
Gregor Mendel would be proud
Dec. 12, 2019—A computational method that uses hospital billing codes and electronic health records can identify genetic disease cases before clinical teams do.
Neuronal culprit in genetic disease
Oct. 14, 2014—A particular neuronal cell population is involved in the pathogenesis of a rare neurological disorder, Vanderbilt researchers have discovered.
Model for MADD mitochondrial disease
Jul. 11, 2013—A zebrafish model of a severe mitochondrial disease will be useful for developing new therapeutic approaches.
Inherited lung disease no worse in offspring
Nov. 15, 2012—An inherited lung disease does not appear to have earlier onset and increased severity – a phenomenon called genetic anticipation – in successive generations.
Gene regulation found to play role in pulmonary hypertension
Oct. 18, 2012—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.
