2024年2月6日，中国医学科学院/北京协和医学院吴南、仉建国及吴志宏共同通讯在Nature Communications 发表题为“Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine”的研究论文，本研究分析了873名先天性椎体畸形先证者和3794名对照个体的外显子组/基因组测序数据。临床解读确定了12.0%先证者的孟德尔病因，并揭示了与肌肉相关的疾病机制。

近日，北京协和医院骨科的吴南、仉建国、香港中文大学的高波、香港大学的钟培言等合作，在Proceedings of the National Academy of Sciences杂志上发表了题为Core Planar Cell Polarity Genes VANGL1 and VANGL2 in Predisposition to Congenital Vertebral Malformations 的研究论文。研究发现，Vangl1和Vangl2缺陷小鼠表现出严重的先天性椎体畸形，成功模拟了CS患者的脊柱畸形。在多中心和多种族的CS队列遗传学数据中，发现了大量罕见且有害的VANGL1和VANGL2基因突变，通过体外和体内功能实验证实了其致病性。

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。

Ehlers-Danlos综合征（EDS）是一组具有临床和遗传异质性的结缔组织疾病，通常累及全身多系统，属于罕见病的一种。EDS共14个亚型，所有亚型共同特征是关节过度活动、皮肤过度伸展和组织脆弱等，不同亚型的临床特征和严重程度各不相同，包括反复关节脱位、脊柱侧凸、动脉夹层、内脏器官破裂等。EDS患者的诊断、治疗、随访、管理等多方面均面临诸多挑战，多学科团队的协同诊疗指南及流程尚未建立，因此中国Ehlers-Danlos综合征多学科诊疗协作组联合国内相关专业人士，共同制定本指南，旨在提高EDS诊疗水平，为患者提供同质化医疗服务。

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。

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。

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。

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.

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.

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.

Welcome to the meeting of the International Consortium for Spinal Genetics, Development, and Disease (ICSGDD), 5-7 Sepember 2019.

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).

Congenital vertebral malformations (CVM) are associated with human TBX6 compound inheritance which combines a rare null allele and a common hypomorphic allele at the TBX6 locus.

On September 2, Dr. Shiro Ikegawa, the director of laboratory of Bone and Joint Diseases, RIKEN center for Intergrative Medical Sciences, Tokyo, Japan, paid a visit to Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH) and gave a lecture at the PUMCH Academic Salon Series in scholarism auditorium of PUMCH.

With the recent advance in genome-wide association studies (GWAS), disease-associated single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) have been extensively reported. Accordingly, the issue of incorrect identification of recombination events that can induce the distortion of multi-allelic or hemizygous variants has received more attention.

Brain arteriovenous malformations (BAVM) represent a congenital anomaly of the cerebral vessels with a prevalence of 10–18/100 000. BAVM is the leading aetiology of intracranial haemorrhage in children. Our objective was to identify gene variants potentially contributing to disease and to better define the molecular aetiology underlying non-syndromic sporadic BAVM.

On May 5th, 2018, DISCO study group held 2018 Forum for Genetics and Epigenetics of Skeletal Associated Disorders in Beijing, China. Professor Guixing Qiu, a senior member of the Chinese Academy of Engineering was the chairperson of the 2018 Forum for Genetics and Epigenetics of Skeletal Associated Disorders. Dr. Zhihong Wu, Dr. Nan Wu and Dr. Jianzhong Su were co-executive chairpersons of this forum. The forum lasted for 2 days.

2018年骨骼相关疾病遗传与表观遗传论坛会议日程

On April 6th, 2018, Dr. Nan Wu was invited to give a key note lecture at the 2nd annual meeting of International Consortium for Spinal Genetics, Development and Disease (ICSGDD; formerly ICSG and ICVAS), Shenzhen, China.

Dr. Carol Wise, the director of molecular genetics and basic research at Scottish Rite Hospital, Texas, USA, visited Beijing Key Laboratory for Genetic Research of Skeletal Deformity of Peking Union Medical College Hospital (PUMCH) on April 10th 2018.

This study is the first proteomic research to delineate the total and differential serum proteins in TBX6 haploinsufficiency-caused CS. The proteins discovered in this experiment may serve as potential biomarkers for CS, and lipid metabolism might play important roles in the pathogenesis of CS.