Modeling efficacy and potency of in vivo somatic cell gene correction for Pompe disease. Homo sapiens

In this project, we have modeled a biallelic metabolic disease, Pompe disease in induced pluripotent stem cells. A biallelic disease is one in which both the maternal and paternal copies of a gene are diseased. We present sequence reads from the diseased alleles and the alleles post gene editing in this project. The accompanying paper also contains a mathematical modeling framework for genetic disease correction.