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.

Read More »

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.

Read More »

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.

Read More »

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.

Read More »

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).

Read More »

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.

Read More »

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.

Read More »

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.

Read More »

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.

Read More »

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.

Read More »

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.

Read More »

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.

Read More »

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

Read More »