genetic disorder Archives
Rare disorder sheds light on dysbindin function
Jun. 27, 2023—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.
Mosaicism and genetic disease
Jun. 22, 2023—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.
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.
