吴南博士荣获“刘士豪-朱宪彝冠名优秀中青年学者”称号
On May 17, Dr. Nan Wu was invited to present at the the 11th annual meeting of the Chinese Society for Osteoporosis and Bone and Mineral Research (CSOBMR), Nanchang, China.
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
“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。
课题组于Genetics in Medicine杂志发表TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
TACS is a clinically distinguishable entity with consistent clinically measurable endophenotypes. The type and distribution of vertebral column abnormalities in TBX6/Tbx6 compound inheritance implicate subtle perturbations in gene dosage as a cause of spine developmental birth defects responsible for about 10% of CS.
课题组于Human Molecular Genetics杂志上发表TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice
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.
Shiro Ikegawa教授来北京协和医院访问交流
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.
课题组于Human Genetics 杂志发表The Coexistence of Copy Number Variations (CNVs) and Single Nucleotide Polymorphisms (SNPs) at a Locus can Result in Distorted Calculations of the Significance in Associating SNPs to Disease
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.
课题组于Journal of Medical Genetics杂志发表Perturbations of BMP/TGF-β and VEGF/VEGFR signaling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
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.
2018年骨骼相关疾病遗传与表观遗传论坛在京召开
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
2018年骨骼相关疾病遗传与表观遗传论坛会议日程
我们在国际脊柱遗传学发育与疾病联合会介绍DISCO研究项目
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.
