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US 8,771,937 B2Granted
Methods for diagnosing and treating a pathology associated with a synonymous mutation occuring within a gene of interest
AssigneesInstitut National De La Sante Et De La Recherche Medicale (Inserm), The Nice Sophia Antipolis University
InventorsPatrick Brest, Paul Hofman, Baharia Mograbi
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Abstract
The present invention relates to a method for diagnosing and/or prognosing a pathology (such as inflammatory disease, especially Crohn disease) associated with a synonymous mutation occurring within a gene of interest (such as IRGM, NOD2 or BSN) in a subject and to a method for treating such pathology in a subject.
Claims6
An in vitro method for diagnosing and/or prognosing a pathology associated with a synonymous mutation occurring within a gene of interest in a subject, said method comprising the following steps of:
- detecting said synonymous mutation in a biological sample from said subject,
- measuring a level of expression of a miR which binds to a wild-type (WT) sequence of said gene of interest in said biological sample,
- comparing a level of expression of said miR to a predetermined value, and
- when said level of expression is higher than the predetermined value, concluding that said subject is affected with said pathology or
- when said level of expression is lower than the predetermined value, concluding that said subject is not affected with said pathology.
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Dependencies are inferred from the claim text.