| Budget Amount *help |
¥51,740,000 (Direct Cost: ¥39,800,000、Indirect Cost: ¥11,940,000)
Fiscal Year 2014: ¥9,620,000 (Direct Cost: ¥7,400,000、Indirect Cost: ¥2,220,000)
Fiscal Year 2013: ¥10,140,000 (Direct Cost: ¥7,800,000、Indirect Cost: ¥2,340,000)
Fiscal Year 2012: ¥10,660,000 (Direct Cost: ¥8,200,000、Indirect Cost: ¥2,460,000)
Fiscal Year 2011: ¥10,530,000 (Direct Cost: ¥8,100,000、Indirect Cost: ¥2,430,000)
Fiscal Year 2010: ¥10,790,000 (Direct Cost: ¥8,300,000、Indirect Cost: ¥2,490,000)
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| Outline of Final Research Achievements |
We developed a comprehensive genetic diagnostic system of the familial ALS including 28 genes related to familial ALS and 469 sporadic ALS samples were analyzed. We identified known mutations in 14 samples and 115 novel polymorphisms or mutations. Among these, 35 mutations in 30 cases were suspected to be disease-causing. We performed exome sequencing of 800 samples including sporadic ALS and control cases and data analysis is ongoing. In addition, we identified at least 2 SNPs related to rapid progression of sporadic ALS by combinational analysis of genetic information and prospective clinical data of Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS).
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