inherited disease

skin cross section
May 18, 2023

A critical skin enzyme

Detailed studies of the enzymatic properties of PNPLA1 support the requirement for this protein in skin barrier formation.

By Leigh MacMillan
February 2, 2023

Nutrient absorption disease model

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.

By Leigh MacMillan
November 17, 2022

Surgery for hereditary breast cancer

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.

By Leigh MacMillan
November 7, 2022

Gene mutations impair gut barrier

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.

By Kelsey Pinckard
April 15, 2021

Arrhythmia culprit: supertrafficking ion channel

Charles Sanders, PhD, and colleagues show how a “supertrafficking” mutant potassium channel contributes to heart rhythm abnormalities.

By Leigh MacMillan
December 12, 2019

Gregor Mendel would be proud

A computational method that uses hospital billing codes and electronic health records can identify genetic disease cases before clinical teams do.

By Paul Govern
October 14, 2014

Neuronal culprit in genetic disease

A particular neuronal cell population is involved in the pathogenesis of a rare neurological disorder, Vanderbilt researchers have discovered.
By Leigh MacMillan
July 11, 2013

Model for MADD mitochondrial disease

A zebrafish model of a severe mitochondrial disease will be useful for developing new therapeutic approaches.
By Leigh MacMillan
November 15, 2012

Inherited lung disease no worse in offspring

An inherited lung disease does not appear to have earlier onset and increased severity – a phenomenon called genetic anticipation – in successive generations.
By Leigh MacMillan
October 18, 2012

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.
By Leigh MacMillan