Genome wide analysis of Young Onset Parkinson disease in Wales

威尔士早发型帕金森病的全基因组分析

• 批准号: G0700943/1
• 负责人: Huw Morris
• 金额: $ 25.84万
• 依托单位: CARDIFF UNIVERSITY
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2008
• 资助国家: 英国
• 起止时间: 2008 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0700943%2F1
• 关键词: Genome; wide; analysis; Young; Onset

Parkinson disease (PD) involves wearing down of brain cells, which leads to tremor and slowness of movement. At the moment there are no treatments which prevent the damage to nerve cell function. Although PD is not usually a familial disease we now know that genetic variation can be important in some patients. This is probably particularly important in people who develop PD at a young age. The genetic code contains the information which controls the development and function of all the cells in the body and variation in this code can increase the risk of developing disease. We have access to new technology (DNA chips) which allows the measurement of a large number of DNA variants (over 550,000) every 5000 letters, through the entire human genome. We will use these chips to map variation that occurs frequently in patients with young onset PD in an attempt to discover new genes that can cause PD. This information will be useful for the diagnosis of PD and in advising patients on the risk to family members. Ultimately we hope that the identification of the disease pathway, through disease genes, will lead to new treatments.

帕金森病（PD）涉及脑细胞的磨损，导致震颤和运动缓慢。目前还没有治疗方法可以防止神经细胞功能的损害。虽然PD通常不是一种家族性疾病，但我们现在知道遗传变异对某些患者很重要。这可能对年轻时发展PD的人特别重要。遗传密码包含控制体内所有细胞的发育和功能的信息，这种密码的变化会增加患疾病的风险。我们有机会获得新技术（DNA芯片），它可以测量整个人类基因组中每5000个字母的大量DNA变体（超过550，000个）。我们将使用这些芯片来绘制年轻发病的PD患者中经常发生的变异，试图发现可能导致PD的新基因。这些信息将有助于PD的诊断，并建议患者对家庭成员的风险。最终，我们希望通过疾病基因识别疾病途径，将导致新的治疗方法。