CORDIS Project
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This project focuses on developing models to study familial hypercholesterolemia, a genetic disorder affecting cholesterol metabolism. It aims to create patient-specific liver cell models to evaluate gene therapy and drug efficacy for treating this condition.
Familial hypercholesterolemia type IIa (FH) is a life-threatening disease caused by mutations on the Low Density Lipoprotein Receptor (LDLR).
While drug treatments reduce the level of circulating cholesterol in heterozygote patients (1:500) with variable efficiency, homozygote patients (1:106) can only be treated by bimonthly apheresis, an invasive procedure.
Hepatocytes are the only cells capable to internalize and degrade cholesterol.We previously shown that we were able to generated iPS from…
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
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