先天性心脏病分子机制研究的机遇与挑战

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-05-01 Epub Date: 2024-10-30 DOI:10.1159/000541266

Mingwei Li, Shuangxing Wang, Hui Zhang, Bing Meng, Yongjie Wu

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引用次数: 0

摘要

背景：先进的分子机制研究结合多学科合作对先天性心脏病的病因、发展和结局有了新的认识。摘要：本文旨在全面探讨先天性心脏病的遗传分子机制，并阐述该领域的研究前景和挑战。通过对病因学、胚胎学、临床结果、算法和伦理的系统探索，我们试图阐明改善诊断、治疗和患者预后的途径。关键信息：基因研究人员、临床医生、数据科学家、伦理学家和政策制定者之间的合作对于应对挑战并将研究成果转化为冠心病患者的切实利益至关重要。

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The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review.

Background: Advanced molecular mechanism research incorporated with multidisciplinary collaborations on congenital heart disease has prompted new insight into its cause, development, and outcomes.

Summary: This literature review aims to comprehensively examine the genetic molecular mechanisms of congenital heart disease and explain current prospects and challenges in this field. Through a systematic exploration of etiology, embryology, clinical outcomes, algorithms, and ethics, we seek to shed light on the path toward improved diagnostics, treatments, and outcomes for patients.

Key message: Collaboration among genetic researchers, clinicians, data scientists, ethicists, and policymakers is crucial to address challenges and translate research findings into tangible benefits for CHD patients.

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.