Vertex deal with Wales expands cystic fibrosis treatment coverage to all of UK
Vertex Pharmaceuticals Inc's drugs for lung condition cystic fibrosis will now be available to patients across the UK after the company reached a pricing deal with Wales on Wednesday.
ConclusionThe eastern and the northern provinces have the highest prevalence of CF, with the c.2988+1G>A (3120+1G>A) and c.1418delG (p.Gly473GlufsX54) variants showing the highest distribution in the Saudi CF population, which may reflect the effect of consanguinity within the same tribe. Proper family screening and counseling should be emphasized.
ConclusionsThe present protocol based on the entire CFTR gene together with informative SNPs outside and inside the gene can be applied to diagnose all CF mutations at preimplantation stage.
(University of California - San Diego) People with cystic fibrosis who carry genetic variants that lowerRNF5 gene expression have more mutant CFTR protein on cell surfaces. Even if the CFTR protein isn't fully functional, it's better than none, and may explain why some with cystic fibrosis are less prone to infection than others.
ConclusionsFocusing on how to cope with future episodes of hemoptysis and the associated anxiety can be helpful to patients. Proactive communication and sensitivity to patient experience may deepen physician ‐patient rapport, increase self‐efficacy to cope with future episodes and lead to more comprehensive care of hemoptysis.
The CF community is currently celebrating the approval of CFTR modulators for individuals with specific CFTR mutations. Once a modulator has been approved by regulators for the treatment of individuals with CF and relatively common CFTR mutations (e.g., G551D or F508del), the community's next challenge is to objectively assess efficacy of that treatment in individuals with CFTR mutations of such rarity that traditional, parallel-group, randomized controlled trials are not feasible. When efficacy is further demonstrated in rare mutation groups, expanding the labels of approved drug to these ultra-orphan subpopulations is es...
Bone mineral density (BMD) has been positively associated with lung function in patients diagnosed with respiratory diseases such as chronic obstructive pulmonary disease (COPD) and cystic fibrosis. However, t...
Cystic Fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR is an ATP- and PKA-dependent chloride channel, regulating chloride and bicarbonate ion flux across apical membranes of polarized epithelial cells [1 –3]. To date, over 2000 mutations have been reported in the CFTR gene (CFTR1 database, http://www.genet.sickkids.on.ca). Around 10% of these mutations result in the formation of premature termination codons (PTCs) and prevent synthesis of full length CFTR mRNA and protein.
WINTER is the hardest time of year for cystic fibrosis sufferers, a charity has revealed.
CONCLUSION: The analysis of the presence of 5T polymporphism in CBAVD patients may add information when predicting the outcome of assisted reproductive techniques. PMID: 31797807 [PubMed - in process]
(Burness) Amidst rising hopes for using CRISPR gene editing tools to repair deadly mutations linked to conditions like cystic fibrosis and sickle cell disease, a new study in the Nature journal Communications Biology describes a new innovation that could accelerate this work by rapidly revealing unintended and potentially harmful changes introduced by a gene editing process.