Delivering precision diagnosis to patients with mitochondrial disease: Using digital technologies to enhance the delivery pathway to provide an accurate genetic diagnosis for patients with mitochondrial disease

为线粒体疾病患者提供精准诊断：利用数字技术增强递送途径，为线粒体疾病患者提供准确的基因诊断

• 批准号: nhmrc : 1179029
• 金额: $ 127.36万
• 依托单位国家: 澳大利亚
• 项目类别: Partnership Projects
• 财政年份: 2020
• 资助国家: 澳大利亚
• 起止时间: 2020-01-01 至 2025-12-31
• 项目状态: 未结题
• 来源: https://researchdata.edu.au/delivering-precision-diagnosis-mitochondrial-disease/1779432
• 关键词: Delivering; precision; diagnosis; patients; mitochondrial

Mitochondrial disease (MD) is the most common inherited metabolic condition. MD can be diagnosed by using whole genome sequencing (WGS) and enables treatment and accurate family planning. We will create a web-base platform to support the diagnosis and treatment of patients with or suspected to have MD. Using a custom-built web-based platform, telemedicine and automated software we will integrate care by primary care givers and MD experts to deliver a precise genetic diagnosis to our MD patients.

线粒体疾病（MD）是最常见的遗传代谢性疾病。MD可以通过使用全基因组测序（WGS）进行诊断，并能够进行治疗和准确的计划生育。我们将建立一个基于网络的平台，以支持诊断和治疗患有或疑似患有MD的患者。使用定制的基于网络的平台，远程医疗和自动化软件，我们将整合初级护理人员和MD专家的护理，为我们的MD患者提供精确的遗传诊断。