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Nature最新封面文章：陈晓雨等应用类脑器官进行罕见病基因治疗药物开发
来源：brainnews
Timothy 综合征 （TS）是一种严重的罕见遗传病，死亡率非常高，它是由CACNA1C基因外显子8A中的c.1216G>A致病性突变引起，这个heterozygous点突变导致 L-type钙通道蛋白Cav1.2的p.G406R的错义变异。TS影响多个器官系统，是自闭症谱系障碍 (ASD) 和癫痫症中最具致病性的遗传病因之一。CACNA1C的常见变异也与其他神经精神疾病密切相关，包括精神分裂症、双相情感障碍和注意力缺陷多动障碍，这表明Cav1.2也是神经精神疾病的关键易感因素。迄今为止，一型TS既无动物模型报道，也没有药物开发的尝试。
2024年4月24号，斯坦福大学 Sergiu Pasca团队在Nature上发表了封面文章 Antisense oligonucleotide therapeutic approach for Timothy syndrome，应用类脑器官进行罕见病基因治疗药物开发。
Nature最新封面文章：陈晓雨等应用类脑器官进行罕见病基因治疗药物开发
来源：brainnews
Timothy 综合征 （TS）是一种严重的罕见遗传病，死亡率非常高，它是由CACNA1C基因外显子8A中的c.1216G>A致病性突变引起，这个heterozygous点突变导致 L-type钙通道蛋白Cav1.2的p.G406R的错义变异。TS影响多个器官系统，是自闭症谱系障碍 (ASD) 和癫痫症中最具致病性的遗传病因之一。CACNA1C的常见变异也与其他神经精神疾病密切相关，包括精神分裂症、双相情感障碍和注意力缺陷多动障碍，这表明Cav1.2也是神经精神疾病的关键易感因素。迄今为止，一型TS既无动物模型报道，也没有药物开发的尝试。
2024年4月24号，斯坦福大学 Sergiu Pasca团队在Nature上发表了封面文章 Antisense oligonucleotide therapeutic approach for Timothy syndrome，应用类脑器官进行罕见病基因治疗药物开发。
分享文章 : 『也谈2024东方圣人』https://mp.weixin.qq.com/s?__biz=MzkyODUwMTQzNw==&mid=2247485360&idx=1&sn=d1c87efd37a80d5e6d8b108c481381b5&chksm=c2169c62f5611574b3685edd1b542bebc6e10f10eda31f5fe0c8989c0765cb03cc9115e9b1cc&mpshare=1&srcid=0419NZl8wMKoGgF39AJe2GIO&sharer_shareinfo=110f5d993682533d03e7bd1983181eda&sharer_shareinfo_first=fb356dd3f175a7508d15ebac789d6d16&from=singlemessage&scene=1&subscene=10000&clicktime=1713622413&enterid=1713622413&sessionid=0&ascene=1&fasttmpl_type=0&fasttmpl_fullversion=7169974-zh_CN-zip&fasttmpl_flag=0&realreporttime=1713622413745&devicetype=android-27&version=28002656&nettype=cmnet&abtest_cookie=AAACAA%3D%3D&lang=zh_CN&countrycode=CN&exportkey=n_ChQIAhIQ1MYCemDc327J%2BO1ma43hlxLvAQIE97dBBAEAAAAAAA4eE2syjn0AAAAOpnltbLcz9gKNyK89dVj0sw9gBIm1zFcQePuWKuU6iQWkecImd1LcMi5m9Y9ZvgcXj7SR6oHMdRre0oIX2zOKc3O4JqIvLCNU%2BKq4q%2FqrioGqAa1V%2BIwjJOQyIaG5tVAFyYakk%2FUFI1K7fvtBzewy8o1dAChUV%2FurVm246R9zLdizNVwV2SE5LZUsrMj3wgkqznjd5XwYqU887s%2BUNVOj7wTWeGshZ2emqg4QjrzUU8%2FNCmULH7eU%2FjLOUA9PseyVPt8Mervm54S9JliR2QoYI0OjbHMQ2ASD&pass_ticket=GJwg85kmYpbNhm6ufduERDVRr%2BiMXDnBlk9C4jnmmRe5r%2Fgmlpq06AmTqvGDrOKV0Jb9qiOTBLf5H9XOICQGUA%3D%3D&wx_header=3 ......聖的小篆由耳、口、壬(tǐng)三部分构成。壬，指站在高地上的人。
......正体“聖”字由耳、口、王构成。王的本意是贯通天地人三道之人。聖是耳听天道，口宣天道......
......刘伯温还写过一首《推碑图》
......温说：末法时期即将结束的时候，连天上无数的王，无数的佛、菩萨、罗汉，无数的道、真人，他们都难逃最后的劫难。他们看到了即将出现的劫难，也知道这时期，宇宙万王之王——未来佛会下到人间。于是都纷纷转生人间，利用人身临凡向未来佛，也就是圣人学道学法，看来现在很多人来源都不简单...
......因原文太长，我们现在截取一部分。
原文：世界已尽，末劫来到，众生受苦恼......必待上上主圣来到…… 我道上上主圣乃弥勒佛早到，……（卷二）
原文：弥勒佛辞天曰：“我去后只传自家三字三法，必万法归一，法正乾坤…… 礼毕透虚而去。凡身木子为姓。
......
原文：而时弥勒佛透虚到南阖浮提中天中国金鸡目奉玉清时年，劫尽......
......
正文详见链接:
......正体“聖”字由耳、口、王构成。王的本意是贯通天地人三道之人。聖是耳听天道，口宣天道......
......刘伯温还写过一首《推碑图》
......温说：末法时期即将结束的时候，连天上无数的王，无数的佛、菩萨、罗汉，无数的道、真人，他们都难逃最后的劫难。他们看到了即将出现的劫难，也知道这时期，宇宙万王之王——未来佛会下到人间。于是都纷纷转生人间，利用人身临凡向未来佛，也就是圣人学道学法，看来现在很多人来源都不简单...
......因原文太长，我们现在截取一部分。
原文：世界已尽，末劫来到，众生受苦恼......必待上上主圣来到…… 我道上上主圣乃弥勒佛早到，……（卷二）
原文：弥勒佛辞天曰：“我去后只传自家三字三法，必万法归一，法正乾坤…… 礼毕透虚而去。凡身木子为姓。
......
原文：而时弥勒佛透虚到南阖浮提中天中国金鸡目奉玉清时年，劫尽......
......
正文详见链接:
#KTS Enea Siarkopol Tarnobrzeg#
KTS Enea Siarkopol Tarnobrzeg, the reigning Champions League Women's champions, are geared up and motivated as they travel to France to face Etival ASRTT in the opening leg of the final on Tuesday. With two consecutive titles under their belt, they are eyeing a historic third in a row.
Their journey to the final has been impressive, overcoming strong opponents along the way. They defeated Austria’s Linz AG Froschberg in the semi-finals, Italian ASD Quattro Mori in the quarters, and topped their group by defeating TT Joué les Tours and TTC Novi Sad.
However, their path to the final has not been without challenges. They faced a tough blow before the quarters when HAN Ying had to take a break due to surgery. Meanwhile, Elizabeta SAMARA and FU Yu competed in the ITTF World Cup Macao 2024 last week, and Xiaoxin YANG is gearing up for Olympic qualifications.
Coach Zbigniew NĘCEK expressed his feelings ahead of the final, saying, "We are thrilled to be in the final, especially after HAN Ying's injury. We believe in our chances, but due to our players' demanding schedules, including preparations for the Olympics and WTT tournaments, our preparation has been compromised. Eliza SAMARA and FU Yu will be fatigued. While our opponents have fewer such players, we're up for the challenge. We are highly motivated, AIMING TO WIN FOR HAN YING. We know our opponents well and anticipate a tough match in France, especially with a packed arena of spectators."
Despite the challenges, KTS Enea Siarkopol Tarnobrzeg remains at the top of the national standings with just two matches left before the playoffs.
KTS Enea Siarkopol Tarnobrzeg, the reigning Champions League Women's champions, are geared up and motivated as they travel to France to face Etival ASRTT in the opening leg of the final on Tuesday. With two consecutive titles under their belt, they are eyeing a historic third in a row.
Their journey to the final has been impressive, overcoming strong opponents along the way. They defeated Austria’s Linz AG Froschberg in the semi-finals, Italian ASD Quattro Mori in the quarters, and topped their group by defeating TT Joué les Tours and TTC Novi Sad.
However, their path to the final has not been without challenges. They faced a tough blow before the quarters when HAN Ying had to take a break due to surgery. Meanwhile, Elizabeta SAMARA and FU Yu competed in the ITTF World Cup Macao 2024 last week, and Xiaoxin YANG is gearing up for Olympic qualifications.
Coach Zbigniew NĘCEK expressed his feelings ahead of the final, saying, "We are thrilled to be in the final, especially after HAN Ying's injury. We believe in our chances, but due to our players' demanding schedules, including preparations for the Olympics and WTT tournaments, our preparation has been compromised. Eliza SAMARA and FU Yu will be fatigued. While our opponents have fewer such players, we're up for the challenge. We are highly motivated, AIMING TO WIN FOR HAN YING. We know our opponents well and anticipate a tough match in France, especially with a packed arena of spectators."
Despite the challenges, KTS Enea Siarkopol Tarnobrzeg remains at the top of the national standings with just two matches left before the playoffs.
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