ARCADIA: Human mini-hearts to decipher and correct RRAGD cardiomyopathy

Hereditary heart diseases are a major cause of death worldwide and they are caused by small mutations in the DNA sequence. We have recently discovered a rare inherited form of a disease causing damage both to the heart (called RRAGD cardiomyopathy) and the kidney. Currently there is no cure for RRAGD cardiomyopathy and there are not experimental models that allow us to study the disease in the lab. Thanks to the patients’ donation, we have collected their cells of the skin and made pluripotent stem cells. We will use these pluripotent stem cells, carrying the mutation of the patient, to build what we call “mini-hearts”: small spheroids that contract and that contain the genetic information of the patients. We will use our “mini-hearts” to model and to understand how the disease develops, whether all the cells of the heart (muscle, vessels and supporting cells) are affected, and finally to test drugs that could prevent or cure the disease. This will allow us to better understand this disease, but also other cardiac diseases which might have a similar mechanism of action. Finally, the drugs that we will test and possibly identify, might also prove beneficial for treating the kidneys or other similar cardiac diseases.