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

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健康问题的原因。我将重点关注那些智力残疾/发育迟缓是一个关键特征的非常特殊的儿童。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，那么我希望能改善受这些疾病影响的患者和家庭的福利。

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.