Unravelling the molecular basis of amyotrophic lateral sclerosis

ALS的唯一已知病因是基因突变。将利用最先进的技术来发现ALS的遗传原因，以增加现有的诊断测试，并促进对疾病机制的调查。ALS患者经历不同的病程，即使在具有相同基因突变的患者中，发病年龄、进展和疾病持续时间也各不相同。我们将检查具有不同疾病表现的特征良好的ALS患者队列，以确定疾病修饰因子。

The only known causes of ALS are gene mutations. State-of-the-art technologies will be used to find genetic causes of ALS to add to existing diagnostic testing and facilitate investigation into disease mechanism. ALS patients experience different disease courses, with variable age of onset, progression and duration of disease even among those with identical gene mutations. We will examine a well-characterised ALS patient cohort with differing disease manifestations to identify disease modifiers.