744 Japans initiative on rare and undiagnosed diseases patients: To bring their diagnostic odyssey to an end, and beyond

Japan has taken measures for specially defined rare diseases, called Nan-Byo (difficult-illness) in Japanese since 1972. While this governmental support has benefited Nan-Byo patients, those suffering from unidentified conditions do not fall into the scheme and cannot receive subsidies nor chances for consultation. To identify such rare and often undiagnoseddiseases, we must integrate systematic diagnosis by medical experts through global data matching, thereby solving the Nof1 problem. Thus, AMED launched the Initiative on Rare and Undiagnosed Diseases (IRUD) to construct a holistic medical network utilizing the existing next-generation sequencing cores, and further expanded the consortium in the Japans universal healthcare system.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research