Identifying New Genes and Genetic Factors Causing CADASIL and related Stroke and Vascular Dementia Disorders

CADASIL是一种脑部小血管疾病，是成人中风和血管性痴呆最常见的可遗传原因之一。对引起CADASIL的NOTCH3突变的基因诊断检测只在大约20%的患者中发现突变，这表明额外的基因和突变是导致CADASIL的原因。通过对没有致病NOTCH3突变的CADASIL患者进行完整的外显子组测序，我的目标是识别导致CADASIL的新基因。

CADASIL is a cerebral small vessel disease which is one of the most common heritable cause of stroke and vascular dementia in adults. Genetic diagnostic testing for NOTCH3 mutations causative of CADASIL only identifies mutations in ~20% of patients which suggests that additional genes and mutations are responsible for CADASIL. By utilising whole exome sequencing on CADASIL patients which have no causative NOTCH3 mutations, I aim to identify new genes that are causative of CADASIL.