genetic disorder Archives
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.
VUMC team discovers new genetic disease
Jun. 3, 2021—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.
New clue to lung scarring
May. 20, 2021—Vanderbilt neonatology team pinpoints signaling pathways involved in the progressive lung fibrosis that occurs in rare genetic diseases.
Treating core Rett syndrome symptoms
Jun. 6, 2019—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.
Study spots undiagnosed genetic diseases in EHR
Mar. 15, 2018—Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.
Cognition in rare hormonal disorder
Feb. 13, 2018—Vanderbilt investigators have conducted the first systematic evaluation of cognitive function in children with a rare genetic disorder.
Neuronal subtypes in genetic disorder
Sep. 6, 2012—Inhibitory neurons that connect and regulate signaling in the brain (interneurons) may contribute to epilepsy and autism in patients with tuberous sclerosis complex.