http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11510907-B2

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filingDate 2020-08-28-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2022-11-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_85ccf6251f70b85f6a78d7688a8772f5
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publicationDate 2022-11-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-11510907-B2
titleOfInvention Modifiers of CFTR-directed therapy
abstract Described herein is a genetic modifier of cystic fibrosis (CF), which may serve as a predictor of the efficacy of a CFTR-directed therapy. SNPs rs7512462 or rs2869027 in non-coding regions of SLC26A9 are shown to correlate with CF lung disease severity in patients having CFTR mutations that leave protein at the cell surface, e.g. gating mutations such as G551D. It is also shown that patient response to Ivacaftor correlates with SLC26A9 genotype. Given the biology of SLC26A9, risk alleles of SLC26A9 should correlate with reduced SLC26A9. SLC26A9 activity (marked by e.g. genotype or expression level) is therefore a predictor of treatment efficacy for any CFTR-directed therapeutic, such as Ivacaftor or Lumacaftor. Associated methods of selecting and treating patients are described, along with related kits, uses, and drug discovery platforms.
priorityDate 2015-09-02-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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