For every question, there is an answer: application of genomic sequencing and functional genomics for disease gene discovery in children with orphan phenotypes

每个问题都有一个答案：应用基因组测序和功能基因组学发现孤儿表型儿童的疾病基因

• 批准号: nhmrc : 2005458
• 金额: $ 9.97万
• 依托单位国家: 澳大利亚
• 项目类别: Postgraduate Scholarships
• 财政年份: 2021
• 资助国家: 澳大利亚
• 起止时间: 2021-01-01 至 2025-12-31
• 项目状态: 未结题
• 来源: https://researchdata.edu.au/for-question-an-orphan-phenotypes/1780608
• 关键词: every; question; there; answer; application

My PhD study will look closely at the genes in a family to see what is different and whether this difference is the cause of rare health problems. I will focus on children with highly unique conditions in which intellectual disability/developmental delay is a key feature. My study is important because if I can find the exact cause of rare genetic conditions, then I hope to improve the welfare of patients and families affected by these types of conditions.

我的博士研究将密切关注一个家庭的基因，看看有什么不同，以及这种差异是否是罕见的健康问题的原因。我将重点关注具有高度独特条件的儿童，其中智力残疾/发育迟缓是一个关键特征。我的研究很重要，因为如果我能找到罕见遗传疾病的确切原因，那么我希望改善受这些类型疾病影响的患者和家庭的福利。