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Introduction of DISCO study

PUMCH
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, and Chinese Academy of Medical Sciences, Beijing, 100730, China.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity
Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College and Chinese Academy of Medical Sciences

Baylor College of Medicine
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Departments of Pediatrics, Baylor College of Medicine, Houston, Texas, USA

Baylor Genetics
Baylor Genetics Laboratory, Houston, Texas, USA

Fudan University
Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai, China

RIKEN
Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan

Keio University
Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan
Japan Early Onset Scoliosis Research Group

Wenzhou Medical University
School of Biomedical Engineering, Wenzhou Medical University, Wenzhou, China

Drexel University
Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA

Johns Hopkins University
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

Victor Chang Cardiac Research Institute
Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia

Harvad University
Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, USA

Capital Institute of Pediatrics
The Beijing Municipal Key Laboratory of Child Development and Nutriomics, Affiliated Children’s Hospital, Capital Institute of Pediatrics, Beijing, China

We have spent six years collecting DNA and clinical information from over 2000 diagnosed patients with scoliosis and some of their family members. The DISCO study group is committed to interpreting the genomic data produced from all the subjects in the study over the coming years, aiming to increase the diagnostic yield, decipher the novel genetic etiology and the disease mechanisms. Our ultimate goal is to provide precise clinical practice guidelines for molecular diagnosis and disease management, genetic counseling, and even therapy to the patients.

Our research is originated from early clinical encounters with patients suffering from scoliosis disorders. Our investigations into the pathogenesis of scoliosis will advance our understanding of somitogenesis during the development and the course of scoliosis conditions. We are trying to unravel the risk factors and potential mechanisms of scoliosis, especially those with vertebral malformations, and develop more effective clinical diagnostic strategies and intervention methods based on these discoveries.

Focus
1) By using state-of-the-art genetic and genomic technology, we aim to find out the genetic etiology of scoliosis and comorbidities.
2) By taking both in vivo (animal models) and in vitro experiments, we try to advance our knowledge of the pathogenic mechanisms involved in scoliosis.
3) By translating our research findings into clinical application, our purpose is to increase the diagnostic yield and improve disease management for those patients suffering from scoliosis.