| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Outline of Final Research Achievements |
Retinitis pigmentosa is the most common inherited retinal dystrophy. Molecular genetic mechanisms of retinitis pigmentosa have not been fully elucidated so far because of a variety of causative genes and their mutations. In this study, we performed molecular genetic analysis to find out causative gene mutations and identified some of new gene mutations, which were different from the mutations reported in Europe and USA. We confirm that our results enable us to perform precise diagnostic approach and genetic counseling, and could be beneficial for promising next-generation treatments such as gene replacement and regenerative medicine therapies.
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