Ataluren and Nonsense Mutations Update

I just added two blog posts, one about Ataluren, with information about the upcoming trial &EMA application, and the other about a new potential approach for nonsense mutations (mutations that end in X). New Potential Approach for Nonsense Mutations November Ataluren Update
Source: Cystic Fibrosis CFTR Modulation and Gene Therapy Forum - Category: Respiratory Medicine Authors: Tags: CFTR Modulation and Gene Therapy Talk Source Type: forums

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Gene Therapy, Published online: 12 July 2019; doi:10.1038/s41434-019-0092-5Beyond cystic fibrosis transmembrane conductance regulator therapy: a perspective on gene therapy and small molecule treatment for cystic fibrosis
Source: Gene Therapy - Category: Genetics & Stem Cells Authors: Source Type: research
Publication date: Available online 6 July 2019Source: International Journal of PharmaceuticsAuthor(s): Angélique Mottais, Mathieu Berchel, Tony Le Gall, Yann Sibiril, Frédérique d'Arbonneau, Véronique Laurent, Paul-Alain Jaffrès, Tristan MontierAbstractThe development of new antibacterial molecules is essential in view of the emergence of pathogenic strains resistant to multiple antibiotics. Among the infectious pathologies, pulmonary infections are particularly difficult to treat due to the complexity of lung anatomy and the presence of natural barriers such as mucus. At present, the aer...
Source: International Journal of Pharmaceutics - Category: Drugs & Pharmacology Source Type: research
Authors: Miah KM, Hyde SC, Gill DR Abstract Introduction: Cystic fibrosis (CF) remains a life-threatening genetic disease, with few clinically effective treatment options. Gene therapy and gene editing strategies offer the potential for a one-time CF cure, irrespective of the CFTR mutation class. Areas covered: We review emerging gene therapies and gene delivery strategies for the treatment of CF particularly viral and non-viral approaches with potential to treat CF. Expert opinion: It was initially anticipated that the challenge of developing a gene therapy for CF lung disease would be met relatively easily. Follo...
Source: Expert Review of Respiratory Medicine - Category: Respiratory Medicine Tags: Expert Rev Respir Med Source Type: research
Abstract Cystic fibrosis (CF) is an autosomal recessive disease caused by a mutant cystic fibrosis transmembrane conductance regulator (CFTR) gene and characterized by chronic bacterial lung infections and inflammation. Complementation with functional CFTR normalizes anion transport across the airway surface. Adeno-associated virus (AAV) is a useful vector for gene therapy because of its low immunogenicity and ability to persist for months to years. However, episomal expression may decrease following cell division and ultimately require readministration. To overcome this, we designed an integrating AAV-based CFTR ...
Source: American Journal of Respiratory Cell and Molecular Biology - Category: Molecular Biology Authors: Tags: Am J Respir Cell Mol Biol Source Type: research
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: E-Poster Sessions Source Type: research
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Orals Sessions Source Type: research
There ’s been an odd-sounding word circulating in the English headlines recently.The word is Orkambi; a drug created by Vertex that treats approximately 40% of people born with the genetic condition, cystic fibrosis. It is the second drug to market in a promising pipeline that targets the CFTR mutation.   True gene therapy it isn’t, but it represents a near-first for a biotech firm, by successfully altering the shape and function of a protein[1]. And priced at £105,000 per patient per year, it is the latest in a long line of medicines the NHS can’t afford.Orkambi has been licensed by the EMAsin...
Source: EyeForPharma - Category: Pharmaceuticals Authors: Source Type: news
Conclusions This review describes how leukocyte-heparanase can be a double-edged sword in tumor progression; it can enhance tumor immune surveillance and tumor cell clearance, but also promote tumor survival and growth. We also discuss the potential of using heparanase in leukocyte therapies against tumors, and the effects of heparanase inhibitors on tumor progression and immunity. We are just beginning to understand the influence of heparanase on a pro/anti-tumor immune response, and there are still many questions to answer. How do the pro/anti-tumorigenic effects of heparanase differ across different cancer types? Does...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
McCray Despite the continued development of cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs for the treatment of cystic fibrosis (CF), the need for mutation agnostic treatments remains. In a sub-group of CF individuals with mutations that may not respond to modulators, such as those with nonsense mutations, CFTR gene transfer to airway epithelia offers the potential for an effective treatment. Lentiviral vectors are well-suited for this purpose because they transduce nondividing cells, and provide long-term transgene expression. Studies in primary cultures of human CF airway epithelia and CF ...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research
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