2015 Fiscal Year Final Research Report
Challgenges to refractory epilepsies with gene editing.
| Project/Area Number |
25670481
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Fukuoka University |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
TAKANO Yukio 福岡大学, 薬学部, 教授 (50113246)
KATSURABAYASHI Shyutaro 福岡大学, 薬学部, 准教授 (50435145)
SAITO Ryo 福岡大学, 薬学部, 講師 (80122696)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Keywords | てんかん / ドラベ症候群 / 遺伝子 / 遺伝子修復 / ＴＡＬＥＮ |
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| Outline of Final Research Achievements |
To investigate the molecular pathomechanisms of Dravet syndrome, we use induced pluripotent cells (iPSCs) from a Dravet syndrome patient. These cells demonstrate the dysfunction of their inhibitory neurons. We use TALEN gene editing techniques to repair abnormalities in the SCN1A gene of the patient’s iPSCs and, in doing, so, see the potential of repaired cells for Dravet syndrome treatment, the iPSC abnormality is corrected with no effect on other parts of the genome. In addition, the SCN1A mutation is introduced iPSCs from a healthy individual. These repaired and mutated iPSCs allow the pathomechanisms of Dravet syndrome to be studied from an isogenic perspective, and with the gene editing system should provide new therapeutic measures for epilepsies such as Dravet syndrome.
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| Free Research Field |
小児科
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