genetic disorder

June 27, 2023

Rare disorder sheds light on dysbindin function

A case study of a rare disorder uncovers roles for the protein dysbindin in the adaptive immune response and suggests that mutations may underlie some cases of very early onset inflammatory bowel disease.

By Sarah E. Glass

June 22, 2023

Mosaicism and genetic disease

Genetic mosaicism — when the body’s cells do not all have the same genetic makeup — could generate variants previously thought to be spontaneous in genetic disease, and detecting parental mosaicism could clarify recurrence risk for future children.

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

June 3, 2021

VUMC team discovers new genetic disease

Researchers at Vanderbilt University Medical Center have discovered a new genetic disease that causes a severe form of neurogenic orthostatic hypotension, a rapid drop in blood pressure upon standing that can cause fainting.

By Bill Snyder

May 20, 2021

New clue to lung scarring

Vanderbilt neonatology team pinpoints signaling pathways involved in the progressive lung fibrosis that occurs in rare genetic diseases.

By Bill Snyder

June 6, 2019

Treating core Rett syndrome symptoms

A new study published in Neurology reports the drug trofinetide has proven safe and effective in treating core symptoms of Rett syndrome in female children and adolescents.

By Kelsey Herbers

March 15, 2018

Study spots undiagnosed genetic diseases in EHR

Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.

By Craig Boerner

February 13, 2018

Cognition in rare hormonal disorder

Vanderbilt investigators have conducted the first systematic evaluation of cognitive function in children with a rare genetic disorder.

By Leigh MacMillan

September 6, 2012

Neuronal subtypes in genetic disorder

Inhibitory neurons that connect and regulate signaling in the brain (interneurons) may contribute to epilepsy and autism in patients with tuberous sclerosis complex.