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FARAFARA Cure FA

Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency

FRDA has both neuronal and non-neuronal manifestations, the latter including progressive cardiomyopathy of the left ventricle, the leading cause of death in FRDA. Little is known about the what occurs in FRDA at the cellular level in cardiomyocytes (heart cells). Induced pluripotent stem cells (iPSCs) were derived from three FRDA individuals with characterized GAA repeats. The cells were differentiated into cardiomyocytes to assess phenotypes. They found that the FRDA cells had differences in the pattern of beating, and they had a deficiency in calcium handling. They defined a robust FRDA cardiac-specific electrophysiological profile in patient-derived iPSCs which could be used for high throughput compound screening. This cell-specific signature will contribute to the identification and screening of novel treatments for this life-threatening disease.

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About the Author

Jen Farmer

Jen Farmer

Executive Director

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