CRISPR-Cas9

Fabry disease is a rare X-linked inherited disorder resulting from a deficiency or absence of the lysosomal enzyme α-galactosidase A (α-Gal A).
This deficiency disrupts the glycosphingolipid metabolic pathway, causing the accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids within lysosomes.
This accumulation impairs cellular morphology and function, leading to a multisystemic condition associated with severe complications such as stroke, heart failure, cardiac arrhythmia, and end-stage renal disease.
Unfortunately, these complications contribute to a reduced life expectancy in individuals with Fabry disease.
Lambda has developed a model for Fabry’s disease, creating kidney organoids through CRISPR-Cas9 gene editing.
This model closely mirrors the pathological phenotype of human Fabry disease and responds to enzyme replacement therapy.
Consequently, it stands as a valuable tool in the development of treatments for Fabry disease.