Transcription of なぜいま、希少遺伝性疾患か？ - kantei.go.jp
1 1 10:00 12:00 2 = 05001,0001,5002,0002,5003,0003,500201420 1320122011201020092008200720062005200420 0320022001200019991998199719961995199419 93 43,155 4,118 4,687 653 1,066 ( ) 3 4,000 I II 1 HMG 1 MCAD VLCAD MTP(LCHAD)
2 CPT1 D006-4 3,880 4 2011 Genzyme 6800 2014 Alnylam 2013 Chiasma 2014 InterMune 2015 Trophos 2010 2014 5 Sanofi Roche Pfizer GlaxoSmithKline TNFSF11 common disease 6
3 TCIRG1 CLCN7 OSTM1 TNFSF11 TNFRSF11A 7 RANKL RANKL +++ SGLT2 SGLT2 8 2003 PCSK9 2004 PCSK9 LDL = 14 mg/dl PCSK9 9 Hall SS. Genetics: a gene of rare effect.
4 Nature496(7444):152-5, 2013 PCSK9 GBA GWAS 10 GWAS GBA J Med Genet. 41(12):937 40, 2004N Engl J Med. 361(17):1651 61, 2009 NIH Office of Rare Diseases Research NIH : 3,500 (2011 2015)Undiagnosed Disease Program ( ) FORGE Canada Consortium (National Rare-Disease Gene-Discovery Project) ( ) EU ( ) International Rare Diseases Research Consortium (IRDiRC)( )
5 Funding organization Australia, Canada, China, EU, Finland, France, Germany, Georgia, Ireland, Italy, Korea, Netherland, Spain, UK, USA 11 12 3,000
