Publications by authors named "J Rommens"
Sarcoidosis is a multisystemic disease that, in rare cases, can involve the central nervous system (CNS). We present a case of sarcoidosis with intracranial and multi-organ involvement. The patient presented with a one-month history of headaches.
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- Highly effective drugs that target the defective CFTR protein have transformed cystic fibrosis treatment, allowing for more personalized therapies.
- This study is the first to demonstrate consistent CFTR responses to modulator treatments across patients with different CFTR gene variants using various human cell culture methods (2D HIO, 3D HIO, and human nasal epithelial cells).
- The results revealed that 2D HIO, which offers better functional range and access to the cell membrane, is a valuable tool for preclinical drug testing in cystic fibrosis.
In December 2020, the U.S. Food and Drug Administration (FDA) expanded the list of CFTR variants approved for treatment with CFTR modulators drugs from 39 to 183.
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- - Over 400 variants in the CFTR gene cause cystic fibrosis (CF), and while CFTR modulators can help improve lung function, they don't work for everyone and don't address all variants.
- - The study examines the SLC26A9 gene marker (rs7512462) and its relationship to lung function in CF patients before and after treatment, finding that certain genetic variants linked to SLC26A9 lead to better lung function and response to CFTR modulators.
- - The research suggests that targeting SLC26A9 could offer new therapeutic options not just for CF but also for individuals with other lung conditions like chronic obstructive pulmonary disease (COPD).
Article Synopsis
- The study investigates the comparability of CF lung disease modifier gene expressions between cultured human nasal epithelia (HNE) and the established model of cultured human bronchial epithelia (HBE), which is important for testing cystic fibrosis therapies.* -
- RNA-sequencing was performed on both types of cultured and fresh cells from individuals with cystic fibrosis, revealing that over 90% of expressed genes have similar expression levels in HNE and HBE, indicating the culturing process had minimal impact on these genes.* -
- The findings suggest that cultured HNE can serve as an effective surrogate for HBE in research, as the co-expression relationships of CFTR and other modifier genes are consistent between the two models.*