title: Development of Database and Genomic Medicine for von Hippel-Lindau Disease in Japan.
abstract: von Hippel-Lindau (VHL) disease is a hereditary tumor disease in which tumors develop in multiple organs, not only as hemangioblastomas (HBs) in the central nervous system, but also as kidney tumors, pheochromocytomas, and so on. Much about the epidemiology of VHL disease remained unknown until fairly recently in Japan, leading to calls for the establishment of a VHL disease epidemiological database in Japanese. To elucidate its epidemiology in Japan, the Japanese Ministry of Health, Labour and Welfare created the VHL Disease Study Group, which was put in charge of carrying out a nationwide epidemiological survey. The survey found close to 400 Japanese VHL disease patients throughout the country. Based on those results, the VHL Disease Study Group created the VHL Disease Treatment Guideline and also a severity classification. It is thought that the prognosis of VHL disease patients can be improved by performing genetic diagnosis and careful follow-up. Accordingly, the University of Tokyo Hospital put in place an in-hospital system for implementing genomic medicine for VHL disease based on genetic diagnosis. For that system, it was especially important to establish (I) accurate genetic diagnostic techniques, (II) genetic counseling capabilities for the patients and their families, and (III) a system of cooperation among multiple departments, including urology departments, and so on. Further elucidation of the epidemiology and the development of genomic medicine are needed to improve the treatment results of VHL disease in Japan.
authors.affiliation: Department of Neurosurgery, The University of Tokyo.
authors.forename: Shunsaku
authors.initials: S
authors.lastname: Takayanagi
authors.forename: Akitake
authors.initials: A
authors.lastname: Mukasa
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Nakatomi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kanno
authors.forename: Jun-Ichi
authors.initials: JI
authors.lastname: Kuratsu
authors.forename: Ryo
authors.initials: R
authors.lastname: Nishikawa
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Mishima
authors.forename: Atushi
authors.initials: A
authors.lastname: Natsume
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Wakabayashi
authors.forename: Kiyohiro
authors.initials: K
authors.lastname: Houkin
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Terasaka
authors.forename: Masahiro
authors.initials: M
authors.lastname: Yao
authors.forename: Nobuo
authors.initials: N
authors.lastname: Shinohara
authors.forename: Taro
authors.initials: T
authors.lastname: Shuin
authors.forename: Nobuhito
authors.initials: N
authors.lastname: Saito
mesh_terms: D016208:Databases, Factual; D023281:Genomics; D006801:Humans; D007564:Japan; D006623:von Hippel-Lindau Disease / Q000453:epidemiology* / Q000628:therapy*