Publications by authors named "Fulya Ozdemircioglu"
Pediatr Pulmonol
December 2024
Article Synopsis
- Genetic variants in the CFTR gene cause cystic fibrosis (CF), and this study explores the genotypic and phenotypic diversity of CF in patients at a major CF center in Turkey.
- The analysis involved 481 individuals, revealing 136 different CFTR variants and identifying novel variants specific to the Turkish population, indicating unique genetic characteristics compared to averages in the US and Europe.
- The findings emphasize the importance of comprehensive genetic profiling in diverse populations to improve personalized treatment for CF, especially in light of new CFTR modulators.
Pediatr Pulmonol
December 2024
Article Synopsis
- - Cystic fibrosis (CF) is caused by mutations in the CFTR gene, with over 2000 identified variants, and new drugs called CFTR modulators are only effective for patients with specific variants, leading to disparities in access based on race and location.
- - A study at Marmara University reviewed 445 CF patients, finding that 31.2% were ineligible for CFTR modulators, identifying 60 different variants, most of which were missense or nonsense types, with c.1545_1546del being the most common in that region.
- - The research emphasizes the need for detailed genetic testing of CF patients who can't use current drugs, suggesting that new strategies must be developed to ensure all patients
