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"Development of a cardiac disease model for Friedreich’s Ataxia"

 

Download the application note on validation of targets identified through AI

 

Friedreich’s ataxia is the most common hereditary ataxia. Cardiomyopathy is present in ~66% of the cases and is the patients' leading cause of death. Cardiomyocyte necrosis and cellular fibrosis have been observed at the cellular level, but the exact disease mechanism has not been identified.

We recently developed an iPSC-derived Friedrich's Ataxia disease model that recapitulated the cardiac disease phenotype in vitro. After functional phenotypic assessment, the disease model was used to test whether AAV-based gene therapy vectors could alleviate cellular phenotypes. Read more in our case study.

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