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产前无创的开拓者贝瑞基因登陆资本市场

2017-09-04 14:05:52   中国经济网

贝瑞基因,是一家致力于应用高通量基因测序技术,为临床医学疾病筛查和诊断提供“无创式”整体解决方案的前沿生物创新型科技公司,是我国无创疾病筛查和诊断的先驱者和领先者,是全球范围内首个研发、提供商业化无创DNA产前检测(NIPT)的企业。

作为开拓者的贝瑞基因,此前也未曾预料到这个分支领域的发展速度会如此之快。不过,该公司的创始者们确实看到中国无创产前筛查和民众需求。经过数年发展,贝瑞基因清晰地认识到,全产业链布局无疑是公司夺取话语权的首要考量。此番登陆资本市场,公司也将迎来更加快速的发展。

基因测序开创无创产检新天地

1997年,香港中文大学卢煜明教授发现母亲外周血中存在胎儿的游离DNA,在产前筛查领域引起了轰动;2008年,正是建立在对“高通量测序技术深刻理解以及对产前筛查技术未来趋势有效认知”的基础上,贝瑞基因创始人之一周代星与香港中文大学卢煜明教授携手展开了人类历史上第一个基因测序临床应用项目--NIPT的验证工作,并取得100%的准确度,随后开启一个全新的人类遗传病检测时代。

其实,真正促成周代星下决心开发无创产前检测,缘于2007年陪太太做产检的经历。作为一名高龄产妇,周代星的太太很担心孩子会出现唐氏综合征。医生的回复却是高龄产妇自动变成高危人群,只能通过超声看颈部透明带的厚度判断是否怀唐氏胎儿。几番折腾后,医生拿着周代星看不懂的图片跟他说应该没什么事,但并不能肯定有几成把握。“普通人很难下判断,即使专业医生的判断准确率也仅在60%-80%之间。”

与医生谈完话的周代星,回家查阅资料后发现,除了有创的羊水穿刺,其他方法都多少存在缺陷。原因在于,这些方法都不看21号染色体的拷贝数。周代星很受触动,决定亲自研发直接检测染色体拷贝数的技术。

2007年的一天,周代星看到香港中文大学教授卢煜明曾发表在《柳叶刀》杂志的一篇文章,其中谈到母体血浆存在胚胎DNA。他顿时意识到,通过分子诊断技术或可精确检测唐氏综合征,因为正常孩子的21号染色体只有两条,而唐氏综合征患儿则有3条。

时隔4个月,周代星拜访卢煜明,二人畅谈技术路线,并于次年完成NIPT实验室的初步验证。实验采用高通量测序技术,针对14例21-三体及14例正常样本测序,结果100%吻合。这是全球范围内,NIPT在临床上的可行性与可信性首次在实验室得到完美验证。

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