Patient-specific isogenic iPSCs-derived cardiomyocytes as a clinically relevant platform for the identification of therapeutic targets for Rett syndrome

Dr Ng, Kwong Man   (Principal Investigator (PI))

Professor Tse Hung Fat   (Co-Investigator)

30

2018-04-01

954024

Patient-specific isogenic iPSCs-derived cardiomyocytes as a clinically relevant platform for the identification of therapeutic targets for Rett syndrome

Drug Testing, Isogenic iPSCs, MeCP2 mutataion, Prolonged QT interval, Rett syndrome disease, Sudden death

Others - Medicine, Dentistry and Health

05161936

Health and Medical Research Fund - Full Grant

2017

Completed

Rett syndrome (RTT) is an X-linked dominant disorder that mainly caused by MeCP2 mutations. Although RTT is regarded as a neurodevelopmental disorder, arrhythmia and sudden deaths are frequently observed in RTT patients. However, due to the absence of appropriate human cardiomyocyte-based model, the pathophysiological mechanism underlying MeCP2 mutation remains unclear, which largely hindered the development of appropriate treatments against the cardiac dysfunctions associated with Rett syndrome. In this study, we propose to use the cardiomyocytes derived from RTT patient-specific isogenic iPSCs as a platform for disease modeling and drug testing. This approach offers a genetically identical but phenotypically distinctive human cardiomyocyte-based model to better recapitulate the disease phenotypes and to facilitate the development of personalized medicine.