Nan Wu/Terry Jianguo Zhang/Zhihong Wu reveal the genetic architecture of congenital vertebral malformations associated with spine development
On February 6, 2024, Nan Wu, Jianguo Zhang, and Zhihong Wu from the Chinese Academy of Medical Sciences/Peking Union Medical College co-published a research paper titled “Unraveling the Genetic Architecture of Congenital Vertebral Malformation with Reference to the Developing Spine” in Nature Communications. This study analyzes the exome/genome sequencing data of 873 probands with congenital vertebral malformations and 3,794 control individuals. Clinical interpretation identified a Mendelian etiology in 12.0% of the probands and revealed a muscle-related disease mechanism.
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.
