Improving diagnosis of rare disorders

神经退行性疾病和神经肌肉疾病很难诊断，甚至更难治疗。它们影响老年人和儿童，通常在很小的年龄，并经常导致过早死亡或慢性衰弱-它们通常无法治愈，30-80%的患者仍未确诊。该计划将确定新的疾病基因，使用尖端工具建立常规诊断，确定新的和验证已知的生物标志物，并开发新的治疗策略。

Neurodegenerative and neuromuscular diseases are difficult to diagnose and even more difficult to treat. They affect the elderly and children, usually at very early age, and often lead to premature death or chronic debilitation – they are usually incurable and 30-80% of patients remain undiagnosed. This program will identify new disease genes, establish routine diagnostics using cutting edge tools, identify novel and validate known biomarkers and develop novel treatment strategies.