Transforming the Diagnosis and Management of Severe Neurocognitive Disorders through Genomics

通过基因组学改变严重神经认知障碍的诊断和治疗

• 批准号: nhmrc : GNT1117394
• 负责人: A/Pr Gareth Baynam
• 金额: $ 249.93万
• 依托单位国家: 澳大利亚
• 项目类别: Centres of Research Excellence
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/transforming-diagnosis-management-disorders-genomics/1347030
• 关键词: Transforming; Diagnosis; Management; Severe; Neurocognitive

Neurocognitive disorders (NCD) are one of the most common genetic conditions in our society and it results with a need for ongoing permanent care for many affected people. Until recently, only 30% of people with NCD could be diagnosed but this has changed with the availability of genomic testing where all genes can be tested at once. The use of genomics in the CRE will lead to new NCD genes being identified and this information being translated into a clinical setting.

神经认知障碍 (NCD) 是我们社会中最常见的遗传性疾病之一，因此需要对许多受影响的人进行持续的长期护理。直到最近，只有 30% 的非传染性疾病患者能够得到诊断，但随着基因组测试的出现，这种情况发生了变化，所有基因都可以一次测试。在 CRE 中使用基因组学将导致新的非传染性疾病基因被识别，并将该信息转化为临床环境。