协和牵头国家重点研发计划项目启动，开展脊柱畸形精准诊疗体系构建及关键技术研究
近日，国家十四五重点研发计划“脊柱畸形精准诊疗体系构建及关键技术研究”项目启动会在京举行。该项目由北京协和医院牵头，旨在构建脊柱畸形诊疗新模式，搭建脊柱畸形二级及三级预防策略体系。北京协和医院副院长彭斌、中国生物技术发展中心卢姗处长出席会议并讲话。
天坛医院神经外科王坤博士在AVM研究方面取得重大突破
王坤，医学博士，首都医科大学附属北京天坛医院神经介入中心主治医师。自2018年以来，王坤博士已与DISCO成员合作在Neurology，Journal of Human Genetics等杂志发表4篇文章。
第三届国际遗传与表观遗传精准医疗论坛会议顺利举办
为促进疑难罕见疾病在临床医学、遗传学、表观遗传学、生物信息学研究与新兴生物医药技术的多学科交叉融合，“第三届国际遗传与表观遗传精准医疗论坛”于2021年7月2日至3日在北京召开。
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
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。
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)
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.
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。
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
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.
Hakon Hakonarson教授来北京协和医院访问交流
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.
2019国际脊柱遗传学发育与疾病联合会
Welcome to the meeting of the International Consortium for Spinal Genetics, Development, and Disease (ICSGDD), 5-7 Sepember 2019.
Brendan Lee教授和Sau Wai Cheung教授来北京协和医院访问交流
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).
