Gene discovery and functional insights for neurological and retinal disorders

神经和视网膜疾病的基因发现和功能见解

• 批准号: nhmrc : 1195236
• 金额: $ 216.32万
• 依托单位国家: 澳大利亚
• 项目类别: Investigator Grants
• 财政年份: 2021
• 资助国家: 澳大利亚
• 起止时间: 2021-01-01 至 2025-12-31
• 项目状态: 未结题
• 来源: https://researchdata.edu.au/gene-discovery-functional-retinal-disorders/1778949
• 关键词: Gene; discovery; functional; insights; neurological

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.

了解疾病的遗传驱动因素是开发疾病疗法的关键。确定疾病中的因果遗传变异可用于未来的诊断、预测和个性化治疗。我们以前已经确定了约20个新基因，并开发了新的方法，为1000个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病因的理解方面取得重大进展。