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.
