Developing a resource for investigations into the penetrance of disease-causing genomic variants

开发用于研究致病基因组变异外显率的资源

• 批准号: 75844
• 金额: $ 4.94万
• 依托单位: THE UNIVERSITY OF MANCHESTER
• 依托单位国家: 英国
• 项目类别: Study
• 财政年份: 2021
• 资助国家: 英国
• 起止时间: 2021 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=75844
• 关键词: Developing; resource; investigations; into; penetrance

'How severely will my disease develop?''How long will I have my sight for?''My brother and father lost their sight at 20, will I as well?'Genetic testing has revolutionised the way that individuals with rare and inherited diseases can be diagnosed and managed, but these important questions are frequently asked by patients in eye genetic clinics across the world and will become more frequent as the availability and accessibility to genetic testing increases. However, as a scientific community we have very few robust answers as to why despite inheriting the same disease-causing spelling mistakes in their DNA - mutations - a son/daughter may develop disease less severely than their father, or in some cases not at all. Through partnership with Sano Genetics, we will develop a resource which is rich in appropriate clinical information and biological samples to help our investigations in this regard. We anticipate that this work will accelerate our knowledge of the way that additional genetic changes impact the presentation and severity of disease, and develop information which is immediately useful for the clinical management of individuals with genetic eye conditions. The project will develop a framework for the resources required to ask these types of complex scientific questions across different clinical specialities.

“我的病会发展到什么程度？”“我的视力能维持多久？我哥哥和父亲在20岁时失明了，我也会吗？“基因检测彻底改变了罕见和遗传性疾病患者的诊断和管理方式，但这些重要问题经常被世界各地眼科遗传诊所的患者询问，并且随着基因检测的可用性和可获得性的增加，这些问题将变得更加频繁。然而，作为一个科学界，我们很少有强有力的答案来解释为什么尽管遗传了相同的导致疾病的DNA拼写错误-突变-儿子/女儿可能会比他们的父亲患上更严重的疾病，或者在某些情况下根本没有。通过与佐野遗传学公司的合作，我们将开发一个资源，这是丰富的适当的临床信息和生物样本，以帮助我们在这方面的调查。我们预计，这项工作将加速我们对其他遗传变化影响疾病表现和严重程度的方式的了解，并开发出对遗传性眼病患者的临床管理立即有用的信息。该项目将为在不同的临床专业中提出这些类型的复杂科学问题所需的资源开发一个框架。