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Strength of patient cohorts and biobanks for cardiomyopathy research

In 2011 the Netherlands Heart Foundation allocated funding (CVON, Cardiovasculair Onderzoek Nederland) to stimulate collaboration between clinical and preclinical researchers on specific areas of research. One of those areas involves genetic heart diseases, which are frequently caused by pathogenic...

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Detalles Bibliográficos
Autores principales: de Boer, R. A., Nijenkamp, L. L. A. M., Silljé, H. H. W., Eijgenraam, T. R., Parbhudayal, R., van Driel, B., Huurman, R., Michels, M., Pei, J., Harakalova, M., van Lint, F. H. M., Jansen, M., Baas, A. F., Asselbergs, F. W., van Tintelen, J. P., Brundel, B. J. J. M., Dorsch, L. M., Schuldt, M., Kuster, D. W. D., van der Velden, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bohn Stafleu van Loghum 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419403/
https://www.ncbi.nlm.nih.gov/pubmed/32780332
http://dx.doi.org/10.1007/s12471-020-01456-4
Descripción
Sumario:In 2011 the Netherlands Heart Foundation allocated funding (CVON, Cardiovasculair Onderzoek Nederland) to stimulate collaboration between clinical and preclinical researchers on specific areas of research. One of those areas involves genetic heart diseases, which are frequently caused by pathogenic variants in genes that encode sarcomere proteins. In 2014, the DOSIS (Determinants of susceptibility in inherited cardiomyopathy: towards novel therapeutic approaches) consortium was initiated, focusing their research on secondary disease hits involved in the onset and progression of cardiomyopathies. Here we highlight several recent observations from our consortium and collaborators which may ultimately be relevant for clinical practice.