Genome wide analysis of Young Onset Parkinson disease in Wales

帕金森氏症（PD）涉及到脑细胞的磨损，导致震颤和行动迟缓。目前还没有治疗方法可以防止神经细胞功能受损。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在某些患者中可能很重要。这可能对年轻时患帕金森病的人尤其重要。遗传密码包含控制体内所有细胞发育和功能的信息，该密码的变化会增加患疾病的风险。我们可以使用新技术（DNA芯片），通过整个人类基因组，每5000个字母测量大量DNA变体（超过55万个）。我们将使用这些芯片来绘制年轻发病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对疾病途径的识别，将带来新的治疗方法。

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.