Publications by authors named "Ori Inbar"
Background: Elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) significantly improves health outcomes in people with cystic fibrosis (pwCF) carrying one or two F508del mutations. According to in vitro assays performed in FRT cells, 178 additional mutations respond to ELX/TEZ/IVA. The N1303K mutation is not included in this list of mutations.
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- The study investigated the efficacy of expanding preconception carrier screening for cystic fibrosis (CF) in Israel, where there is a wide variety of CFTR mutations due to genetic diversity.
- Researchers genotyped a group of CF patients lacking a molecular diagnosis, identifying 54 mutations, of which only 16 were part of the existing screening panel.
- The findings suggest that incorporating a broader range of CFTR mutations could significantly increase detection rates for potential carriers before conception.
Background: Population carrier screening (PCS) has been available in Israel since 1999 and universally subsidized since 2008. We sought to evaluate its impact.
Methods: A retrospective review of governmental databanks, the national CF registry and CF centers.