A 2001 discovery by Mary E. Brunkow and Fred Ramsdell identified a mutation in the Foxp3 gene that is associated with a rare human autoimmune disease.
January 01, 2001
high
temporal
Identification of a genetic mutation linked to immune dysregulation and a rare autoimmune disorder.
Huntington's disease is a rare, inherited neurodegenerative disorder caused by a mutation in the HTT gene that leads to production of an abnormal huntingtin protein which progressively damages neurons in the brain.
high
medical
General definition and genetic cause of Huntington's disease.
More than 350 distinct genetic variants in mitochondrial DNA or in nuclear DNA that encodes mitochondrial proteins can trigger mitochondrial diseases.
high
genetic
Genetic causes of mitochondrial disease.
Individuals with the same genetic mitochondrial defect can exhibit widely variable symptoms, disease severity, and ages of onset.
high
clinical
Phenotypic variability associated with mitochondrial genetic defects.
A mitochondrial disease–causing mutation in a gene required for mitochondrial protein synthesis affects about 50,000 people across the United States, Europe, and Japan.
high
statistical
Reported prevalence of a relatively common mitochondrial disease–causing mutation across multiple regions.