Bone Abstracts

Biographical Details

Dr Gen Nishimura is Radiologist-in-Chief, Department of Pediatric Imaging, Tokyo Meteropolitan Children’s Medical Center, Tokyo, Japan. After obtaining the medical degree at Keio University School of Medicine in Tokyo, Dr G Nishimura started his career of diagnostic radiology in the late 1970s. During the exposure to pediatric radiology in early 1980s, he developed a special interest in a diagnosis of skeletal dysplasias. In 1988, he visited Royal Alexandra Hospital for Children in Sydney and learned the subject from Prof. Kazimierz Kozlowski. Thereafter, he was able to develop a number of international scientific collaborations with new friends and mentors, such as Prof. Andrea Superti-Furga in Switzerland and Prof. Juergen Spranger in Germany. He contributed to several new discoveries of disease-causing genes, such as TGFβ in Camurati–Engelmann disease and SLC35D1 in Schneckenbecken dysplasia. He also contributed to recent versions of international nosology and classification of genetic skeletal disorders (2010, 2006 revisions).