Characterization of a novel epigenetic boundary and long range epigenetic modifications specific to FMR1 expansion carriers with behavioural and cognitive disorders - implications for earlier diagnosis and treatment.

具有行为和认知障碍的 FMR1 扩增携带者特异的新型表观遗传边界和长程表观遗传修饰的表征 - 对早期诊断和治疗的影响。

• 批准号: nhmrc : 1049299
• 负责人: A/Pr Howard Slater
• 金额: $ 44.73万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/characterization-novel-epigenetic-diagnosis-treatment/112073
• 关键词: Characterization; novel; epigenetic; boundary; long

Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and autism and is caused by a faulty switch in the gene FMR1. We have discovered new DNA regions important in FXS. The project aims to explain how these new regions regulate the FMR1 gene. This is essential for the discovery and validation of new avenues for earlier diagnosis, treatments and therapies for children and adults with FMR1 disorders and also for informing reproductive decisions.

脆性 X 综合征 (FXS) 是遗传性智力障碍和自闭症的最常见形式，由 FMR1 基因的错误开关引起。我们发现了 FXS 中重要的新 DNA 区域。该项目旨在解释这些新区域如何调节 FMR1 基因。这对于发现和验证患有 FMR1 疾病的儿童和成人的早期诊断、治疗和治疗的新途径以及为生殖决策提供信息至关重要。