CRISPR correction of a homozygous low‐density lipoprotein receptor mutation in familial hypercholesterolemia induced pluripotent stem cells

Linda Omer, Elizabeth A. Hudson, Shirong Zheng, James B. Hoying, Yuan Shan, Nolan L. Boyd – 16 October 2017 – Familial hypercholesterolemia (FH) is a hereditary disease primarily due to mutations in the low‐density lipoprotein receptor (LDLR) that lead to elevated cholesterol and premature development of cardiovascular disease. Homozygous FH patients (HoFH) with two dysfunctional LDLR alleles are not as successfully treated with standard hypercholesterol therapies, and more aggressive therapeutic approaches to control cholesterol levels must be considered.

Subscribe to