Crispr/cas9 gene editing of atxn2 for the treatment of spinocerebellar ataxia type 2
AssigneeThe Children's Hospital of Philadelphia
InventorsBryan SIMPSON, Beverly DAVIDSON, Alejandro MAS MONTEYS
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Abstract
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.
Claims48
A composition comprising:
- a first vector comprising a nucleic acid comprising:
- a sequence encoding at least a first guide RNA targeting a genomic target sequence according to SEQ ID NO:
- 1, 3, 4, 5, 6, 7 or 8;
- a sequence encoding a first promoter, wherein the first promoter drives expression of the sequence encoding the first guide RNA, and
- a second vector comprising a nucleic acid comprising:
- a sequence encoding a Cas9 or a nuclease domain thereof;
- a sequence encoding a second promoter, wherein the second promoter drives expression of the sequence encoding a Cas9 or a nuclease domain thereof.
A composition comprising a first vector comprising a nucleic acid comprising:
- a sequence encoding at least a first guide RNA targeting a genomic target sequence according to SEQ ID NO:
- 1, 3, 4, 5, 6, 7 or 8;
- a sequence encoding a first promoter, wherein the first promoter drives expression of the sequence encoding the first guide RNA.
A method of preventing, treating, slowing the onset of, or slowing the progression of spinocerebellar ataxia type 2 in a subject in need thereof comprising administering to the subject a therapeutically effective amount a first vector comprising a nucleic acid comprising:
- a sequence encoding at least a first guide RNA targeting a genomic target sequence according to SEQ ID NO:
- 1, 3, 4, 5, 6, 7 or 8;
- a sequence encoding a first promoter, wherein the first promoter drives expression of the sequence encoding the first guide RNA, and
- a second vector comprising a nucleic acid comprising:
- a sequence encoding a Cas9 or a nuclease domain thereof;
- a sequence encoding a second promoter, wherein the second promoter drives expression of the sequence encoding a Cas9 or a nuclease domain thereof.
Dependencies are inferred from the claim text.