首页> 中文期刊> 《儿科学(英文)》 >Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China

Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China

         

摘要

Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next-generation sequencing. Empirical and theoretical data support the utility of expanded carrier screening. The authors propose a comprehensive carrier screening program as a main component of the first-tier measure in preventing severe genetic disorders and birth defects in China. We discussed the key principles and important aspects to ensure the success of such a program. The authors believe this program will play a pivotal role in our endeavor for a healthier nation.

著录项

  • 来源
    《儿科学(英文)》 |2018年第001期|30-36|共7页
  • 作者单位

    Research Institute for Birth Defect Prevention and Control, Guangxi Maternal and Child Health Hospital, Guangxi, China, Department of Medical genetics at Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China,Division of Genetics and Genomics at Boston Children's Hospital, Harvard Medical School, Boston, USA;

    Research Institute for Birth Defect Prevention and Control, Guangxi Maternal and Child Health Hospital, Guangxi, China;

    Research Institute for Birth Defect Prevention and Control, Guangxi Maternal and Child Health Hospital, Guangxi, China;

    Research Institute for Birth Defect Prevention and Control, Guangxi Maternal and Child Health Hospital, Guangxi, China;

    The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China,Institute of Embryo-Fetal Original Adult Disease, Shanghai Key Laboratory for Reproductive Medicine, School of Medicine, Shanghai Jiao Tong University, Shanghai, China;

    March of Dimes Birth Defects Foundation of China;

    Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China,Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China, Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China;

    The Research Center for Medical Genomics, China Medical University, Shenyang, China,McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China;

    Bio-X Institute, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China;

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