A novel role for spliceosome dysfunction in gonadal dysgenesis and intellectual disability.

剪接体功能障碍在性腺发育不全和智力障碍中的新作用。

• 批准号: nhmrc : GNT1156942
• 金额: $ 56.39万
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2019
• 资助国家: 澳大利亚
• 起止时间: 2019-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/novel-role-spliceosome-intellectual-disability/1378967
• 关键词: novel; role; spliceosome; dysfunction; gonadal

Some babies are born with a disorder affecting the brain and gonads. These disorders are rare and the genetic cause is often unknown, meaning that doctors can be left guessing as to the best treatment. This proposal aims to study how a newly discovered gene called SART3 causes children to be born with severe intellectual disability and gonadal dysgenesis (sex reversal). This will improve diagnosis, and hopefully lead to a better understanding of how these disorders arise and how to treat them.

有些婴儿出生时就患有影响大脑和性腺的疾病。这些疾病很罕见，遗传原因往往是未知的，这意味着医生可以猜测最好的治疗方法。这项提案旨在研究一种新发现的名为SART 3的基因如何导致儿童出生时患有严重的智力残疾和性腺发育不全（性逆转）。这将改善诊断，并有望更好地了解这些疾病是如何产生的以及如何治疗它们。