ArticleJournal of human genetics2022
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.
Article in Journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 39 citations in OpenAlex.
- Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Article
- Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features.Journal of human immunity · 2026Article
- Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.iScience · 2026Article
- Cross-Cultural Adaptation of the University of North Carolina Genomic Knowledge Scale: Translation and Psychometric Validation in Japanese Populations.Journal of genetic counseling · 2026Article
- Skeletal dysplasia and growth disorder withClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Population-scale genomic medicine with the Hong Kong Genome Project.Nature medicine · 2026Article
- Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.Human genome variation · 2026Article
- ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype.Human genome variation · 2026Article
- RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.NPJ genomic medicine · 2025Article
- Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in Japan.Journal of human genetics · 2025Review
- Functional assays inGenome research · 2025Review
- Hemizygous SMARCA1 variants cause X-linked intellectual disability.Journal of human genetics · 2025Article
- Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.Journal of human genetics · 2025Review
- Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.JIMD reports · 2025Article
- Accelerating access to human genomics for public health: perspectives from the Western Pacific region.The Lancet regional health. Western Pacific · 2024Article
- Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.Scientific reports · 2024Article
- Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure.The journal of allergy and clinical immunology. Global · 2024Article
- Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.Human genome variation · 2024Article
- A novel functionalFrontiers in immunology · 2024Article
- Loss of function inGenetics in medicine open · 2024Article
Corrections and comments
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Authors and funding
13 authors at 20 institutions in 1 country.
Funding
Abstract
The identification of causative genetic variants for hereditary diseases has revolutionized clinical medicine and an extensive collaborative framework with international cooperation has become a global trend to understand rare disorders. The Initiative on Rare and Undiagnosed Diseases (IRUD) was established in Japan to provide accurate diagnosis, discover causes, and ultimately provide cures for rare and undiagnosed diseases. The fundamental IRUD system consists of three pillars: IRUD diagnostic coordination, analysis centers (IRUD-ACs), and a data center (IRUD-DC). IRUD diagnostic coordination consists of clinical centers (IRUD-CLs) and clinical specialty subgroups (IRUD-CSSs). In addition, the IRUD coordinating center (IRUD-CC) manages the entire IRUD system and temporarily operates the IRUD resource center (IRUD-RC). By the end of March 2021, 6301 pedigrees consisting of 18,136 individuals were registered in the IRUD. The whole-exome sequencing method was completed in 5136 pedigrees, and a final diagnosis was established in 2247 pedigrees (43.8%). The total number of aberrated genes and pathogenic variants was 657 and 1718, among which 1113 (64.8%) were novel. In addition, 39 novel disease entities or phenotypes with 41 aberrated genes were identified. The 6-year endeavor of IRUD has been an overwhelming success, establishing an all-Japan comprehensive diagnostic and research system covering all geographic areas and clinical specialties/subspecialties. IRUD has accurately diagnosed diseases, identified novel aberrated genes or disease entities, discovered many candidate genes, and enriched phenotypic and pathogenic variant databases. Further promotion of the IRUD is essential for determining causes and developing cures for rare and undiagnosed diseases.
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