Gene editing could cure cystic fibrosis before birth, study suggests

Scientists at the University of Pennsylvania successfully edited the DNA of embryonic mice just days before birth to get rid of genetic defects that cause fatal lung diseases.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Authors: Paterson SL, Barry PJ, Horsley AR Abstract Introduction: Cystic fibrosis (CF) is a complex, multi-system, genetic disease affecting over 70,000 people worldwide. The underlying defect is a mutation in the CFTR gene. Dysfunctional CFTR protein results in abnormal anion movement across epithelial membranes in affected organs. There has been a paradigm shift in CF treatment over the last decade with the advent of CFTR modulation, treatments which target this underlying genetic defect and have the potential to change the course of CF clinical disease. Areas covered: Available CFTR modulators in current clinica...
Source: Expert Review of Respiratory Medicine - Category: Respiratory Medicine Tags: Expert Rev Respir Med Source Type: research
Background: In US cystic fibrosis (CF) patients, methicillin-resistant Staphylococcus aureus (MRSA) rates have tripled in the past 2 decades. Known clinical risk factors include exposure to a healthcare setting, Pseudomonas aeruginosa and CF-related diabetes. Area-level socio-environmental exposures have not been evaluated. We explored the association of area-level deprivation with MRSA prevalence in a pediatric CF Center in the Southeastern United States. Methods: Patients’ residential addresses were geocoded and linked to a composite Area Deprivation Index and Rural-Urban Commuting Area scores. The association...
Source: The Pediatric Infectious Disease Journal - Category: Infectious Diseases Tags: Original Studies Source Type: research
Abstract Cystic fibrosis (CF) is the most common life-limiting hereditary condition of Caucasian populations and is characterised by chronic airways inflammation driving progressive structural lung damage. Despite tremendous advances in the treatment of CF and concomitant increased life expectancy for patients, chronic lung disease remains the main cause of morbidity and mortality among CF patients. While universal restoration of cystic fibrosis transmembrane conductance regulator activity remains a future hope, novel therapies aimed at reducing or preventing chronic airways inflammation and progressive structural...
Source: American Journal of Respiratory and Critical Care Medicine - Category: Respiratory Medicine Authors: Tags: Am J Respir Crit Care Med Source Type: research
Abstract In yeast Saccharomyces cerevisiae cells, some aberrant multimembrane-spanning proteins are not transported to the cell surface but form and are accumulated in endoplasmic reticulum (ER)-derived subcompartments, known as the ER-associated compartments (ERACs), which are observed as puncta under fluorescence microscopy. Here we show that a mutant of the cell surface protein Pma1, Pma1-2308, was accumulated in the ERACs, as well as the heterologously expressed mammalian cystic fibrosis transmembrane conductance regulator (CFTR), in yeast cells. Pma1-2308 and CFTR were located on the same ERACs. We also note ...
Source: Cell Structure and Function - Category: Cytology Authors: Tags: Cell Struct Funct Source Type: research
Publication date: Available online 15 October 2019Source: Pulmonary Pharmacology &TherapeuticsAuthor(s): Martina Oriano, Leonardo Terranova, Giovanni Sotgiu, Laura Saderi, Angela Bellofiore, Mariangela Retucci, Cinzia Marotta, Andrea Gramegna, Daniela Miglietta, Chiara Carnini, Paola Marchisio, James D. Chalmers, Stefano Aliberti, Francesco BlasiAbstractNeutrophil elastase (NE) is a crucial marker of neutrophilic inflammation. We aimed to compare different techniques to detect active NE in sputum samples of 50 Bronchiectasis (BE) and 50 Cystic Fibrosis (CF) patients. Three methods including a ProteaseTag® Active NE...
Source: Pulmonary Pharmacology and Therapeutics - Category: Respiratory Medicine Source Type: research
Conditions:   Genetic Disease;   Nonsense Mutation;   Cystic Fibrosis With Meconium Ileus Intervention:   Drug: ELX-02 Sponsor:   Eloxx Pharmaceuticals, Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conclusions: The effects of HIIT appear to be comparable to those of continuous exercise in relation to functional and cardiovascular responses. However, our findings should be interpreted with caution because the studies evaluated present a high risk of bias, which could have a direct influence on the results.RESUMO Objetivo: Avaliar e comparar os efeitos do high-intensity interval training (HIIT, treinamento intervalado de alta intensidade) aos do exerc ício contínuo sobre a capacidade funcional e variáveis cardiovasculares em pacientes com DPOC por meio de revisão sistemática e meta-an...
Source: Jornal Brasileiro de Pneumologia - Category: Respiratory Medicine Source Type: research
We report growth from birth to 2 years in a cohort of c...
Source: BMC Pediatrics - Category: Pediatrics Authors: Tags: Research article Source Type: research
CONCLUSIONS: Losartan effectively reversed CF- and inflammation-associated mucociliary dysfunction, independent of its angiotensin receptor blockade. PMID: 31613648 [PubMed - as supplied by publisher]
Source: American Journal of Respiratory and Critical Care Medicine - Category: Respiratory Medicine Authors: Tags: Am J Respir Crit Care Med Source Type: research
AbstractObjectiveThe Phenotype Risk Score (PheRS) is a method to detect Mendelian disease patterns using phenotypes from the electronic health record (EHR). We compared the performance of different approaches mapping EHR phenotypes to Mendelian disease features.Materials and MethodsPheRS utilizes Mendelian diseases descriptions annotated with Human Phenotype Ontology (HPO) terms. In previous work, we presented a map linking phecodes (based on International Classification of Diseases [ICD]-Ninth Revision) to HPO terms. For this study, we integrated ICD-Tenth Revision codes and lab data. We also created a new map between HPO...
Source: Journal of the American Medical Informatics Association - Category: Information Technology Source Type: research
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