[Skip to Content]
[Skip to Content Landing]
April 24, 2018

Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome

Author Affiliations
  • 1Division of Medical Genetics, Department of Medicine, University of Washington, Seattle
  • 2Department of Pathology, University of Washington, Seattle
JAMA. 2018;319(16):1663-1664. doi:10.1001/jama.2018.2199

Hutchinson-Gilford progeria syndrome (HGPS) is an ultrarare autosomal dominant genetic disorder, with an incidence of 1 in 4 million live births, for which there is no known cure. Children with HGPS appear normal at birth but present in infancy with severe failure to thrive, accompanied by a prematurely aged appearance, alopecia, and progressive lipoatrophy, joint contractures, skeletal dysplasia, and atherosclerosis, although intellectual development is normal.1 Accelerated cardiovascular disease results in death due to myocardial infarction or stroke at an average age of 14.6 years.2