A small molecule induces readthrough of cystic fibrosis CFTR nonsense mutations

(University of Alabama at Birmingham) An experimental drug reported in Nature Communications suggests that a " path is clearly achievable " to treat currently untreatable cases of cystic fibrosis disease caused by nonsense mutations. This includes about 11 percent of cystic fibrosis patients, as well as patients with other genetic diseases, including Duchenne muscular dystrophy,β-thalassemia and numerous types of cancers, that are also caused by nonsense mutations.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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During protein synthesis, nonsense mutations, resulting in premature stop codons (PSCs), produce truncated, inactive protein products. Such defective gene products give rise to many diseases, including cystic fibrosis, Duchenne muscular dystrophy (DMD), and some cancers. Small molecule nonsense suppressors, known as TRIDs (translational read-through–inducing drugs), stimulate stop codon read-through. The...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences 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
A Chinese scientist shocked the scientific community a couple of days ago with the announcement of having modified the very blueprint of life. If his claims are true, he tried to bestow two baby girls the ability to resist possible future infections with HIV. The outrage shows that humanity is not prepared to utilize the power of gene editing on embryos yet. We have no idea about the biological consequences, and we haven’t tackled the necessary legal and ethical issues. Genes to become toys of the “Gods”? Humanity has come a long way since Aldous Huxley pinned down how methods of genetic engineering, bio...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Bioethics Future of Medicine Genomics designer babies designer baby Gene gene editing genes Genome genome sequencing Health Healthcare healthcare system Innovation technology Source Type: blogs
(Rice University) Rice University bioengineers have combined a virus that infects moths with magnetic nanoparticles to create a potential new therapy for inherited genetic diseases like muscular dystrophy, sickle cell, cystic fibrosis, spinal muscular atrophy and some forms of cancer.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news
Bolstering the notion that RNA should be considered an important drug-discovery target, scientists at Scripps Research have found that several existing, FDA-approved anti-cancer drugs may work, in part, by binding tightly to RNA, the regulators of the basic activities of life within cells. The research offers another approach for tackling diseases that have been considered "undruggable," including amyotrophic lateral sclerosis (ALS), muscular dystrophy, cystic fibrosis and certain cancers.
Source: World Pharma News - Category: Pharmaceuticals Tags: Featured Research Research and Development Source Type: news
(Scripps Research Institute) The research offers another approach for tackling diseases that have been considered 'undruggable,' including amyotrophic lateral sclerosis (ALS), muscular dystrophy, cystic fibrosis and certain cancers.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
This article provides an overview of the most promising and clinically relevant genetically modified porcine models of human disease for translational biomedical research, including cardiovascular diseases, cancers, diabetes mellitus, Alzheimer's disease, cystic fibrosis and Duchenne muscular dystrophy. We briefly summarise the technologies involved and consider the future impact of recent technical advances.
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: REVIEW Source Type: research
We now have a precise way to correct, replace or even delete faulty DNA.Ian Sample explains the science, the risks and what the future may holdSo what is gene editing?Scientists liken it to the find and replace feature used to correct misspellings in documents written on a computer. Instead of fixing words, gene editing rewrites DNA, the biological code that makes up the instruction manuals of living organisms. With gene editing, researchers can disable target genes,correct harmful mutations, and change the activity of specific genes in plants and animals, including humans.What ’s the point?Much of the excitement aro...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Genetics Medical research Science Health Biology Source Type: news
Nusinersen, one of several recently approved drugs intended for use in a rare disease, boasts an eye-popping price tag. Biogen Pharmaceuticals announced that nusinersen will cost $750  000 for the first year of treatment and $375 000 each year thereafter (prescribed indefinitely) for patients with spinal muscular atrophy (SMA). Other recently approved costly therapies for rare diseases include ivacaftor, costing $311 000 per year, for responsive patients with cystic fibrosi s; combination lumacaftor-ivacaftor, costing $272 000 per year, for patients with cystic fibrosis; eteplirsen, costing $300 000 per year, for...
Source: JAMA Pediatrics - Category: Pediatrics Source Type: research
From portable genome sequencers until genetic tests revealing distant relations with Thomas Jefferson, genomics represents a fascinatingly innovative area of healthcare. As the price of genome sequencing has been in free fall for years, the start-up scene is bursting from transformative power. Let’s look at some of the most amazing ventures in genomics! The amazing journey of genome sequencing Genome sequencing has been on an amazing scientific as well as economic journey for the last three decades. The Human Genome Project began in 1990 with the aim of mapping the whole structure of the human genome and sequencing ...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Genomics Personalized Medicine AI artificial intelligence bioinformatics cancer DNA dna testing DTC gc3 genetic disorders genetics genome sequencing personal genomics precision medicine Source Type: blogs
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