儿科发作的下一代测序:分析目标小组和个性化治疗方法
Barbara Castellotti1, Francesca Ragona2, Elena Freri2
1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Epilepsia open
|August 31, 2024
概括
基因分析在24%的儿科患者中发现了致病变体,其中33%的人可能有资格接受精准医学. 这突显了下一代测序 (NGS) 对的向治疗的有用性.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 儿科发作的 represent一个重要的临床挑战与不同的病因.
- 鉴定的遗传基础对于理解疾病机制和指导治疗至关重要.
- 精准医学为管理中量身定制的治疗策略提供了一个有希望的途径.
研究的目的:
- 在一大批患有儿科发作的患者中进行基因分析.
- 根据遗传发现,识别那些可能受益于精密医学治疗的患者.
- 在这个群体中评估下一代测序 (NGS) 面板的诊断产量.
主要方法:
- 在7年内对562名患有儿科发作的的患者进行了回顾性观察性研究.
- 排除结构性和代谢性原因,然后对疑似遗传病因进行NGS小组查.
- 对临床数据和遗传变异 (IV和V类) 的分析,以确定关联和治疗资格.
主要成果:
- 在接受基因检测的24%患者中检测到可能致病或致病变体.
- 早发性,神经缺陷,精神运动延迟和脑MRI异常与致病变体相关.
- 下一代测序 (NGS) 显示了特定类型的诊断产量更高,如渐进性肌性 (PME) 和早期发育性和性脑病变 (DEE).
- 患有致病变异的患者中,多达33%的人可能有资格接受精准医学治疗.
结论:
- 大规模应用NGS多基因面板对于儿科发作的分子诊断是有效的.
- 遗传发现有助于识别适合个性化治疗方法的患者.
- 了解遗传机制可以指导儿童治疗方法的选择和优化.
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