| Budget Amount *help |
¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Outline of Final Research Achievements |
Patients with EYS-RP carry nonsense variants at the high rate and they displayed a severe classical type of RP phenotype. Moreover, patients with EYS nonsense variants have more severe RP as compared with patients with missense variants. We performed a new genetic analysis with a panel and more than 22% of subjects were identified as EYS-RP.
We developed anti-EYS antibody and carried out westernblotting and immunohistochemistry. EYS expression was detected in bovine retina by westernblotting and in the photoreceptor outer segments in monkey retinas.
We established iPSC from 3 patients with EYS-RP. These iPSC were differentiated into three-dimensionalretinal organoids. Until now, we were not able to detect clear RP phenotype in these retinal organoids.
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