2023 Volume 40 Issue 4 Pages 531-536
IRUD has been launched in 2015 according to a worldwide trend of promotion of rare disease medicine. Nationwide surveys by AMED revealed more than 37000 cases were in such situation in Japan, while various measures on rare diseases were available once the diagnosis was made since 1972 and were greatly strengthened by the new Law on rare disease since 2015 in Japan. By the March 2021, causative gene variants were identified in 2677 families (Detection rate : 44.4%) out of 6031 families with whole exome sequence and 7069 families registered. There were 25 new pathogenic genes, 6 new diseases with new variants of known pathogenic genes and 14 new phenotypes of new variants of known pathogenic genes. Among 2247 families caused by 652 genes, 70% of which were responsible for only 1 or 2 families suggesting they were very rare. These rare disease–causing variants detected in IRUD appear good candidates to develop nucleic acid therapies in near future.
