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US 11,220,689 B2Granted
Modulators of telomere disease
AssigneeChildren's Medical Center Corporation
InventorsSuneet Agarwal, Diane Moon, Baris Boyraz, Matthew Segal
Life of this patent
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Abstract
The disclosure relates to treating and diagnosing telomere diseases, and methods of screening agents for treating and diagnosing telomere diseases.
Claims1
A method of increasing telomerase RNA component (TERC) level or activity in a subject having dyskeratosis congenita, the method comprising:
- a) identifying the subject in need of increasing TERC level or activity;
- and
- b) administering to the subject an effective amount of a pharmaceutical composition comprising a PAP Associated Domain Containing 5 (PAPD5) inhibitor, wherein the inhibitor is an shRNA comprising a sequence that corresponds to the nucleic acid sequence of SEQ ID NO:
- 83,
- thereby increasing TERC level or activity in the subject,
- wherein the subject has a mutation at PARN, and
- wherein the subject has a deletion in PARN.
4 more elements
Dependencies are inferred from the claim text.