Gene discovery and functional insights for neurological and retinal disorders

了解疾病的遗传驱动因素是疾病治疗发展的关键。确定疾病的因果遗传变异可用于未来的诊断、预测和个性化治疗。我们已经发现了大约20个新基因，并开发了新的方法，为成千上万的个体提供基因组诊断。在接下来的五年里，我将在我们对癫痫、共济失调和痴呆等疾病的病因的理解方面取得重大进展。

Understanding the genetic drivers of disease is key for the development of disease therapies. Determination of the causal genetic variants in a disorder can be used for future diagnosis, prognostication, and personalised treatment. We have previously identified ~20 novel genes and developed new methods providing genomic diagnoses for 1000s of individuals. In the next five years I will make significant advances in our understanding of what causes diseases such as epilepsy, ataxia and dementia.