中国医学科学院脊柱畸形大数据研究与应用重点实验室2021年度开放课题申请指南公告

  • Post category:未分类

现发布中国医学科学院脊柱畸形大数据研究与应用重点实验室开放基金资助课题(以下简称“开放课题”)指南, 本年度计划资助5-7个项目,每项拟资助1-2万元,研究期限1-2年。

继续阅读中国医学科学院脊柱畸形大数据研究与应用重点实验室2021年度开放课题申请指南公告

课题组在Journal of Medical Genetics杂志上发表Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

  • Post category:未分类

Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. Identification of the molecular etiology underlying EOS patients could provide valuable information for both clinical management and prenatal screening. In this study, we consecutively recruited a cohort of 447 Chinese patients and another cohort of 13 EOS patients from the United States to test the diagnostic yield and clinical impact of ES.

继续阅读课题组在Journal of Medical Genetics杂志上发表Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

吴南医生在2019美国人类遗传学协会年会发表口头报告

2019年10月15日,吴南医生在于美国休斯顿举办的美国人类遗传学协会2019年年会上作了题为“Disruption of genes essential for Müllerian duct/Wolffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)”的口头报告。DISCO项目组其他成员,包括赵森博士,王连雷博士、陈泽夫博士和赵恒强博士也在年会上作了海报介绍。

继续阅读吴南医生在2019美国人类遗传学协会年会发表口头报告
Read more about the article 吴南博士受邀在2019国际脊柱遗传学发育与疾病联合会发表演讲
文章列表图

吴南博士受邀在2019国际脊柱遗传学发育与疾病联合会发表演讲

  • Post category:未分类

On September 5th, 2019, Dr. Nan Wu was invited to the annual meeting of 2019 International Consortium for Spinal Genetics, Development and Disease (ICSGDD; formerly ICSG and ICVAS), Stockholm, Sweden. He gave a key note lecture entitled “The genetic and molecular aspects of Early Onset Scoliosis (EOS)”. Dr Nan Wu paid a visit to National Genomics Infrastructure (NGI) of Sweden.

继续阅读吴南博士受邀在2019国际脊柱遗传学发育与疾病联合会发表演讲
Read more about the article Hakon Hakonarson教授来北京协和医院访问交流
文章列表图

Hakon Hakonarson教授来北京协和医院访问交流

  • Post category:未分类

On May 28, Dr. Hakon Hakonarson, the director of Center for Applied Genomics and professor of Pediatrics, Children's Hospital of Philadelphia (CHOP), USA, paid a visit to Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH) and gave a lecture entitled “Integrative Genomics Discoveries and Development at centre for applied genomics at CHOP” at the 44nd PUMCH Academic Salon Series in scholarism auditorium of PUMCH.

继续阅读Hakon Hakonarson教授来北京协和医院访问交流
Read more about the article Brendan Lee教授和Sau Wai Cheung教授来北京协和医院访问交流
文章列表图

Brendan Lee教授和Sau Wai Cheung教授来北京协和医院访问交流

  • Post category:未分类

On April 15, Dr. Brendan Lee, the director of Molecular and Human Genetics and director of Center for Skeletal Medicine and Biology, Baylor College of Medicine, Texas, USA,and Dr. Sau Wai Cheung, professor of Molecular and Human Genetics, Baylor College of Medicine, Texas, USA, paid a visit to Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH).

继续阅读Brendan Lee教授和Sau Wai Cheung教授来北京协和医院访问交流

DISCO国际协作组举办2019年国际遗传与表观遗传精准医疗论坛

  • Post category:未分类

“2019国际遗传与表观遗传精准医疗论坛”于4月19-21日在温州召开。本次会议由系统解析脊柱侧凸及相关合并症(DISCO)国际协作组、骨骼畸形遗传学研究北京市重点实验室、温州医科大学生物医学大数据研究所联合主办。

继续阅读DISCO国际协作组举办2019年国际遗传与表观遗传精准医疗论坛