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27 January 2013

A new "Disease-in-a-dish" model for Hereditary ARVD/C

Sònia Forcales of the Genetics and Epigenetics of Cancer group led by Manuel Perucho at the Institute of Predictive and Personalized Medicine of Cancer (IMPPC) has participated in a study published on-line in Nature today. The study was collaboration between researchers of the Sanford Burnham Institute for Medical Research and the Johns Hopkins University.

The researchers developed an in vitro model that permits the personalized study for patients with arrhymogenic right ventricular dysplasia of the right ventricle (ARVD/C). In this hereditary disease the cardiac muscle is replaced by adipose tissue, which can cause sudden death in young adults. Although it is inherited, the lack of symptoms before the age of 20 makes it very difficult to study ARVC/C in order to develop new treatments.

In this study iPSC (induced-pluripotent stem cells) from patients were grown into cardiac cells in the laboratory. The cardiac cells showed the same characteristics as the cells in the patient's heart. Researchers were able to identify a protein in the cells that is one of the reasons that they fail to function properly.

Cells from patients' skin were treated to turn them into stem cells, similar to those found in an embryo. The stem cells were treated with a new culture method, which encourages them to turn into mature heart cells. This allows the researchers to follow the course of the disease in the laboratory.

This method proves the success of using the patients' own skin cells to make the model, this type of model is known as "disease-in-a-dish". It means that different treatments can be tested in the laboratory and opens the way for tailored treatments for each patient in the future.



Generalitat de Catalunya

Unió Europea


Universitat Autònoma de Barcelona

Ajuntament de Badalona

Institut Català de la Salut

Germans Trias i Pujol Hospital

Fundació Institut d'investigació en Ciències de la Salut Germans Trias i Pujol