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医学遗传前沿

senzhao

聚焦医学遗传与人类遗传的最新进展, 关注遗传学在医药卫生市场中的价值。 讨论学术问题,探索转化机遇。 解析遗传密码,促进人类健康。

PublishesMonthlyEpisodes35Founded2 years ago
Language
ZH-CN
Number of ListenersCategory
Science

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Artwork for 医学遗传前沿

Latest Episodes

本期节目,我们请到了来自浙江大学医学院附属邵逸夫医院妇产科的王昊教授,跟大家一起聊一聊细胞遗传学的历史与前沿进展,尤其是近期更新的ISCN (An International System for Human Cytogenomic Nomenclature)指南,帮助医学遗传检验相关的同事和老师遵循最新的国际标准进行临床报告和科研文章撰写~

专业名词与缩写中英文列表

• Cytogenomics细胞基因组学研究染色体结构与基因组功能之间关系的学科。

• G-band (Giemsa ba... more

ACMG(American College of Medical Genetics and Genomics,美国医学遗传学与基因组学学会)在2025 年 3 月于洛杉矶举行的年会上发布了全新的序列变异解读指南Sequence Variant Classification (SVC) 4.0 草稿。这与上一次重大更新(SVC3.0, 2015)已经过去了十年之久。本期节目,由我自己对全新的指南内容进行剖析,并分享我对遗传变异评级自动化的个人理解。

主要内容:

01:22 ACMG 简介

0... more

在上期节目中,我们和杨添博士一起学习了基因编辑技术的背景知识及其在遗传病治疗中的应用。本期节目,我们一起深入学习一下今年基因治疗领域的大事件,2025 年 6 月发表在新英格兰医学杂志的罕见病基因编辑单人单药的应用。在政策和技术的双重创新下,来自美国费城儿童医院的研究团队在 8个月内完成了针对 CPS1 deficiency 新生儿患者的单人单药开发到给药,拯救了患儿的生命。这个与时间赛跑的故事既惊心动魄,又鼓舞人心,希望我们在国内也能一起努力,推动罕见病的单人单药治疗!

文献链接:

www... more

本期节目,我们请到了来自美国 Life Edit Theraputics Inc.的杨添博士,一起聊一聊在美国 Biotech 的职业发展,CRISPR 基因编辑技术,定向进化技术, 以及遗传病的基因治疗~

主要内容

02:19 在学术界和工业界中如何选择

04:28 美国 Biotech 的生态与职业发展

11:16 CRISPR 技术的背景介绍

14:03 CRISPR 技术的迭代

18:13 Base editing 的定向进化

25:35 遗传病的基因治疗案例

关键词与相... more

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5.0 out of 5 stars from 16 ratings
  • 不错的节目

    主持人的问题非常专业!知识含量很高,希望继续下去!

    Apple Podcasts
    5
    pacojiang1994
    Chinaa year ago
  • 非常好的播客

    学到了很多!

    Apple Podcasts
    5
    forredtzhao
    China2 years ago

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医学遗传前沿 launched 2 years ago and published 35 episodes to date. You can find more information about this podcast including rankings, audience demographics and engagement in our podcast database.

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