
The 3rd International Forum of Genetics and Epigenetics in Precision Medicine was successfully held.
In order to promote the interdisciplinary integration of clinical medicine, genetics, epigenetics, bioinformatics research and emerging biomedical technologies for difficult and rare diseases, the 3rd International Forum of Genetics and Epigenetics in Precision Medicine had been held in Beijing from July 2 to 3, 2021.

Chinese Academy of Medical Sciences Key Laboratory of Spinal Deformity Big Data Research and Application-2021 Open Project Application Guidelines Announcement.
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。

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.
Dr. Nan Wu gave an oral presentation at the 2019 ASHG annual meeting, Houston, USA
On October 15th, 2019, Dr. Nan Wu gave an oral presentation entitled “Disruption of genes essential for Müllerian duct/Wolffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)”, at the annual meeting of 2019 American Society of Human Genetics (ASHG), Houston, USA. The members from DISCO project, including Dr. Sen Zhao, Dr. Lianlei Wang, Dr. Zefu Chen and Dr. Hengqiang Zhao, also gave poster presentations at the 2019 ASHG annual meeting.

Dr. Nan Wu was invited to give a lecture at the 2019 International Consortium for Spinal Genetics, Development and Disease (ICSGDD) meeting, Stockholm, Sweden
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.

Dr. Hakon Hakonarson Visited Peking Union Medical College Hospital
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 International Consortium for Spinal Genetics, Development, and Disease (ICSGDD)
Welcome to the meeting of the International Consortium for Spinal Genetics, Development, and Disease (ICSGDD), 5-7 Sepember 2019.

Dr. Brendan Lee and Dr. Sau Wai Cheung Visited the Genetic Clinic of Skeletal Deformity and Facilities at Peking Union Medical College Hospital on April 15
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).
Dr. Nan Wu was awarded to “Outstanding young and middle-aged scholars” of the Chinese Society for Osteoporosis and Bone and Mineral Research (CSOBMR)
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.
2019 International Forum of Genetics and Epigenetics in Precision Medicine
On April 19, 2019, DISCO study group held 2019 International Forum of Genetics and Epigenetics in Precision Medicine in Wenzhou, China. Professor Guixing Qiu, a senior member of the Chinese Academy of Engineering and Professor Jia Qu, director of School of Ophthalmology and Optometry were the co-chairperson of the 2019 International Forum of Genetics and Epigenetics in Precision Medicine.
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.

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.

Dr. Shiro Ikegawa Visited Peking Union Medical College Hospital
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.

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.

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 Forum for Genetics and Epigenetics of Skeletal Associated Disorders
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.

We present DISCO project at the International Consortium for Spinal Genetics, Development and Disease (ICSGDD) meeting, Shenzhen/Guangzhou, China
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 Paid a Visit to Peking Union Medical College Hospital
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.
TBX6 polymorphism is associated with congenital scoliosis
The single SNP analysis showed allele frequency of rs2289292 (exon 8, the only tagging SNP) and rs3809624 (5’untranslated region) demonstrated significant difference between CS cases and controls (P = 0.017 and P = 0.033),which suggests genetic variants of TBX6 gene is associated with CS.
Genetic polymorphisms of GPR126 are functionally associated with PUMC classifications of adolescent idiopathic scoliosis
GPR126 has been identified to be associated with AIS (Adolescent Idiopathic Scoliosis) in different populations, but data on the northern Chinese population are unavailable. Additionally, it is important to know the exact clinical phenotypes associated with specific genetic polymorphisms.
Dr. Nan Wu was invited to speak at the 3rd International Rare Diseases Research Consortium (IRDiRC)
On February 9th, 2017, Dr. Nan Wu was invited to give an oral presentation at the annual meeting of International Rare Diseases Research Consortium (IRDiRC) at Paris, France. He introduced our findings about TBX6 gene discovery in world-wide congenital scoliosis patient cohorts.
Dr. Nan Wu was invited to give a lecture at the annual meeting of the Japanese Society for Bone and Mineral Research (JSBMR)
On July 27th, 2017, Dr. Nan Wu was invited to present at the the 35th annual meeting of Japanese Society for Bone and Mineral Research (JSBMR), Fukuoka, Japan. He introduced our work about an undefined subtype of congenital scoliosis.
Professor Zhihong Wu was invited to introduce the DISCO project in the 60th year anniversary of Chinese Academy of Medical Sciences (CAMS), Beijing, China
Professoer Zhihong Wu was invited to the 60th year anniversary of Chinese Academy of Medical Sciences (CAMS). His introduced the DISCO project as well as our previously work focusing on scoliosis phenotype. On the other hand, he also described our contribution to the development of genetic diagnostic strategies of scoliosis
We summarized the genetic landscape and clinical implications of vertebral anomalies in VACTERL association
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals.
We summarized the key role of TBX6 gene plays in the spine development, through interaction with three main signal pathways contributing to congenital scoliosis
We summarized the key role of TBX6 gene plays in the spine development, through interaction with three main signal pathways contributing to congenital scoliosis Congenital

Through proteomic analysis, we revealed potential protein biomarkers for CS
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.
Dr. Nan Wu was invited to give a lecture at Mount Sinai Hospital, Toronto, Canada
Dr. Nan Wu was invited to present at the Mount Sinai Hospital, Toronto, Canada, where he introduced the genetic studies of bone and joint disease of PUMCH On October 24th, 2016.
The genetic model of rare variant together with common hypomorphic allele of TBX6 involving in the pathogenesis of congenital scoliosis
The genetic model of rare variant together with common hypomorphic allele of TBX6 involving in the pathogenesis of congenital scoliosis Generally, the molecular mechanism of
The compound inheritance of TBX6 causing congenital scoliosis was discovered
The compound inheritance of TBX6 causing congenital scoliosis was discovered A genomewide analysis of copy-number variants was performed in 20 trios (consisting of a person