Clinical and Genetic Basis of Inherited Heart Diseases and Sudden Cardiac Death

遗传性心脏病和心源性猝死的临床和遗传学基础

• 批准号: nhmrc : GNT1154992
• 负责人: Prof Christopher Semsarian
• 金额: $ 58.53万
• 依托单位国家: 澳大利亚
• 项目类别: Practitioner Fellowships
• 财政年份: 2019
• 资助国家: 澳大利亚
• 起止时间: 2019-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/clinical-genetic-basis-cardiac-death/1349172
• 关键词: Clinical; Genetic; Basis; Inherited; Heart

As a clinician scientist, understanding the genetic basis of heart disease has been the cornerstone of my research endeavours. This study will focus on the identification of new genes in families with inherited heart disease and sudden cardiac death using state-of-the-art whole genome sequencing approaches, and discover the underlying disease processes using patient-derived stem cells. New clinical and genetic knowledge will lead to the improved care of inherited heart disease families.

作为一名临床科学家，了解心脏病的遗传基础一直是我研究工作的基石。这项研究将重点关注使用最先进的全基因组测序方法鉴定遗传性心脏病和心脏性猝死家族中的新基因，并使用患者源性干细胞发现潜在的疾病过程。新的临床和遗传知识将导致遗传性心脏病家庭的护理得到改善。