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公开(公告)号:US20220177878A1
公开(公告)日:2022-06-09
申请号:US17594651
申请日:2020-04-24
IPC分类号: C12N15/11 , C12N15/113 , C12N15/90 , C12N15/86 , C12N9/22
摘要: CRISPR/Cas9-mediated genome editing holds clinical potential for treating genetic diseases, such as spinocerebellar ataxia type 2, which is caused by mutations in the ATXN2 gene. Here, compositions and methods for the treatment of spinocerebellar taxia type 2 are provided. In some embodiments, a composition providing a vector encoding a guide RNA of the disclosure and a vector encoding a Cas9 protein or nuclease domain thereof of the disclosure are provided for use in the treatment of spinocerebellar ataxia type 2.
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公开(公告)号:US20220228146A1
公开(公告)日:2022-07-21
申请号:US17607837
申请日:2020-05-06
IPC分类号: C12N15/113
摘要: Disclosed herein are compounds and methods for modulating expression of disease-causing genes such as STXBP1, SCN1A, SCN2A, SCN8A, SLC6A1, and MECP2. Such compounds and methods are useful to treat, prevent, or ameliorate epileptic encephalopathy and neurodevelopmental disorders in an individual in need thereof.
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