Japan's initiative on rare and undiagnosed diseases (IRUD): Towards an end to the diagnostic odyssey

European Journal of Human Genetics

Volumn 25, Issue 9, 2017, Pages 1025-1028

  Adachi, Takeya ^a   Kawamura, Kazuo ^a,b   Furusawa, Yoshihiko ^a   Nishizaki, Yuji ^a,c   Imanishi, Noriaki ^a   Umehara, Senkei ^a   Izumi, Kazuo ^a,d   Suematsu, Makoto ^a  

^a JAPAN AGENCY FOR MEDICAL RESEARCH AND DEVELOPMENT   (Japan)

^b RIKEN   (Japan)

^c JUNTENDO UNIVERSITY   (Japan)

^d NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

APPLIED RESEARCH; ARTICLE; BASIC RESEARCH; GENETIC DATABASE; HEALTH CARE SYSTEM; HUMAN; JAPAN; MEDICAL EXPERT; MEDICAL RESEARCH; NEXT GENERATION SEQUENCING; NURSE; PHENOTYPE; PHYSICIAN; PRIORITY JOURNAL; RARE DISEASE; SCIENTIST; CLASSIFICATION; DATA BASE; GENETIC SCREENING; GENETICS; INFORMATION DISSEMINATION; INTERNATIONAL COOPERATION; ORGANIZATION AND MANAGEMENT; PROCEDURES; STANDARDS;

DATABASES AS TOPIC; GENETIC TESTING; HUMANS; INFORMATION DISSEMINATION; INTERNATIONAL COOPERATION; JAPAN; RARE DISEASES;

EID: 85027065479     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2017.106     Document Type: Article

References (16)

1. Japan Intractable Diseases Information Center. Definition of Nanbyo (Intractable Diseases). Available at: http://www.nanbyou.or.jp/english/index.htm (accessed on 13 July 2016)
2. Ministry of Health, Labour, and Welfare, Government of Japan. Law for the treatment and care of patients with intractable diseases (in Japanese). Available at: http://www. mhlw.go.jp/stf/seisakunitsuite/bunya/kenkou-iryou/kenkou/nanbyou/(accessed on 13 July 2016)
3. Ikegami N, Yoo BK, Hashimoto H et al: Japan: Universal Health Care at 50 Years 2. Japanese universal health coverage: evolution, achievements, and challenges. Lancet 2011; 378: 1106-1115
4. 51st Notification of the Ministry of Health, Labor and Welfare, 2016FY Issued on March 4, 2016. Available at: https://hodanren.doc-net.or.jp/iryoukankei/16kaitei/horei/160304kp-kkj51-keiji.pdf (accessed on 27 February 2017)
5. Gahl WA, Tifft CJ: The NIH Undiagnosed Diseases Program: lessons learned. JAMA 2011; 305: 1904-1905
6. Taruscio D, Groft SC, Cederroth H et al: Undiagnosed Diseases Network International (UDNI): white paper for global actions to meet patient needs: Mol Genet Metab 2015; 116: 223-225
7. Beaulieu CL, Majewski J, Schwartzentruber J et al: FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. Am J Hum Genet 2014; 94: 809-817
8. Firth HV, Wright CF: DDD Study. The deciphering developmental disorders (DDD) study. Dev Med Child Neurol 2011; 53: 702-703
9. Higuchi Y, Hashiguchi A, Yuan J et al: Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann Neurol 2016; 79: 659-672
10. Endo Y, Noguchi S, Hara Y et al: Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels. Hum Mol Genet 2015; 24: 637-648
11. Miyatake S, Mitsuhashi S, Hayashi YK et al: Biallelic mutations in MYPN, encoding myopalladin, are associated with childhood-onset, slowly progressive Nemaline myopathy. Am J Hum Genet 2017; 100: 169-178
12. Kuriyama S, Yaegashi N, Nagami F et al: The Tohoku Medical Megabank Project: Design and Mission. J Epidemiol 2016; 26: 493-511
13. Initiative on Rare and Undiagnosed Diseases (IRUD). Available at: http://www.amed.go. jp/en/program/IRUD/(accessed on 27 February 2017)
14. Automatable Discovery and Access Matrix ('ADA-M') v1.0 Guidance Document. Available at: https://genomicsandhealth.org/files/public/ADAM-GuidanceDocument-15-Dec2016-Final.pdf (accessed on 27 February 2017)
15. The Japan's Plan for Dynamic Engagement of All Citizens (Provisional). Available at: http://www.kantei.go.jp/jp/singi/ichiokusoukatsuyaku/pdf/plan2.pdf (accessed on 4 August 2016)
16. Transforming Rare Diseases Research-IRDiRC Goals 2017-2027. The 3rd International Rare Diseases Research Consortium Conference. 9 February 2017.