用于心肌病研究的患者队列和生物样本库的优势。

Strength of patient cohorts and biobanks for cardiomyopathy research.

作者信息

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

机构信息

Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands.

出版信息

Neth Heart J. 2020 Aug;28(Suppl 1):50-56. doi: 10.1007/s12471-020-01456-4.

DOI:10.1007/s12471-020-01456-4

PMID:32780332

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7419403/

Abstract

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.

摘要

2011年，荷兰心脏基金会拨款（荷兰心血管研究CVON），以促进临床和临床前研究人员在特定研究领域的合作。其中一个领域涉及遗传性心脏病，这类疾病通常由编码肌节蛋白的基因中的致病变异引起。2014年，DOSIS（遗传性心肌病易感性的决定因素：探索新的治疗方法）联盟启动，其研究重点是心肌病发病和进展过程中的继发性疾病靶点。在此，我们重点介绍我们联盟及合作者最近的一些观察结果，这些结果最终可能与临床实践相关。