The Lexiebean Foundation, Current News

Giving those affected by Cystic Fibrosis reason to Believe

Current News

The expression of Mirc1/Mir17–92 cluster in sputum samples correlates with pulmonary exacerbations in cystic fibrosis patients

Cystic fibrosis (CF) is a multi-organ disorder characterized by chronic sino-pulmonary infections and inflammation. Many patients with CF suffer from repeated pulmonary exacerbations that are predictors of worsened long-term morbidity and mortality. There are no reliable markers that associate with the onset or progression of an exacerbation or pulmonary deterioration. Previously, we found that the Mirc1/Mir17–92a cluster which is comprised of 6 microRNAs (Mirs) is highly expressed in CF mice and negatively regulates autophagy which in turn improves CF transmembrane conductance regulator (CFTR) function.

Gene editing & stem cells

Cystic Fibrosis (CF) occurs when both alleles of the CFTR gene contain a mutation which blocks the trafficking and/or function of the CFTR protein, and/or affects the integrity or stability of its mRNA. Five years ago it was shown that nuclease-dependent gene editing could correct the most common CF-causing mutation p.Phe508del (legacy name F508del) [1] and restore the function of the CFTR protein [2]. Subsequent studies have shown that CFTR mutations can also be corrected in primary human cells, lung cells in CF mice [3] and patient-derived inducible pluripotent stem (iPS) cells [4–7].

Cystic fibrosis research topics featured at the 14th ECFS Basic Science Conference: Chairman's summary

In recent years, tremendous progress has been made in the development of novel drugs targeting the basic defect in patients with cystic fibrosis (CF). This breakthrough is based on a solid foundation of knowledge on CFTR's function in health and how mutations in CFTR cause CF multi-organ disease. This knowledge has been collected and continuously expanded by an active and persistent CF research community and has paved the way for precision medicine for CF. Since 2004, the European Cystic Fibrosis Society (ECFS) has held an annual Basic Science Conference that has evolved as an international forum for interdisciplinary discussion of hot topics and unsolved questions related to CF research.

Resolvin D1 regulates epithelial ion transport and inflammation in cystic fibrosis airways

Cystic Fibrosis (CF) lung disease is characterised by dysregulated ion transport that promotes chronic bacterial infection and inflammation. The impact of the specialised pro-resolution mediator resolvin D1 (RvD1) on airway surface liquid (ASL) dynamics and innate defence had not yet been investigated in CF airways.

Drugs during pregnancy and breast feeding in women diagnosed with Cystic Fibrosis - An update

Over the past decades life expectancy of people with Cystic Fibrosis (CF) has significantly improved as a result of improved antimicrobial treatment, management strategies aimed at improved nutritional status and facilitating mucus clearance, neonatal screening and standardization of care in multidisciplinary CF care centers. The median age of CF patients in developed countries has increased to over 40years. Improved survival and overall health has led to an increased number of women reaching reproductive age.

The relationship between sweat chloride levels and mortality in cystic fibrosis varies by individual genotype

The association between CFTR genotype, sweat chloride and mortality has been inconsistent, but no previous analyses have examined the association stratified by individual genotypes.

Rare cases of Blastobotrys raffinosifermentans as cause of FEV1 decline in two CF patients – Whole genome sequencing to exclude transmission

We present the case of a 20-year old young woman with cystic fibrosis (CF) due to a delta F508 homozygotic mutation, and a predicted FEV1 of 35% (1.0L) stable since adolescence. The patient is known to be colonized with Pseudomonas aeruginosa. Therefore, she is treated with inhaled antibiotics: colistin, aztreonam or tobramycin, cycling according to the resistance pattern of the most recent sputum culture. An allergic bronchopulmonary aspergillosis (ABPA) has been treated in the past, with no evidence of reactivation.