Articles tagged with Cystic Fibrosis
The American College of Medical Genetics and Genomics has released an updated minimum variant set of 100 CFTR gene variants for carrier screening, replacing the previous 23-variant list. The new recommendations apply to genetic testing to determine carrier status, not diagnosis or newborn screening.
A study found that even insured patients with diabetes use crowdfunding platforms like GoFundMe to cover excess medical expenses, including uncovered co-pays and life-saving care. Researchers urge policymakers to consider these needs when developing affordable diabetes care policies.
Research by West Virginia University professor Sean Tu found that orphan drugs earn pharmaceutical companies almost as much as those marketed to the general public. The Orphan Drug Act incentivizes companies with tax credits, longer patent exclusivity, and easier FDA review for treating rare diseases.
The May issue of the CHEST journal features cutting-edge research on pulmonary, critical care, and sleep medicine. The journal also highlights awareness for cystic fibrosis, a once-fatal childhood condition now affecting adults.
Researchers have identified a new cell state in embryonic airway development, which may lead to new approaches for treating chronic respiratory diseases. The discovery highlights the crucial role of cellular heterogeneity in shaping airway biology.
Researchers have developed a new type of nanoparticle that can efficiently deliver CRISPR/Cas9 components to the lungs, allowing for targeted gene editing. In mice studies, the particles delivered mRNA to up to 60% of lung epithelial cells, offering a promising approach to treating genetic diseases such as cystic fibrosis.
Researchers at St. Jude Children's Research Hospital and Rockefeller University have gained a better understanding of the cystic fibrosis transmembrane conductance regulator (CFTR). The new findings reveal how CFTR functions mechanistically and how disease mutations affect its function, paving the way for more effective therapies.
A multicenter study found that patients with cystic fibrosis can safely take a dual combination of CF modulator drugs for four years while maintaining previously achieved clinical improvement. This breakthrough therapy has improved the quality and length of patients' lives, with some even seeing a 15% increase in lung function.
Researchers at Charité – Universitätsmedizin Berlin have discovered a cystic fibrosis drug effective in laboratory experiments, raising hope it can treat pneumonia regardless of the pathogen. The study found that CFTR plays a key role in pulmonary edema and that a CFTR modulator, ivacaftor, can prevent this condition.
The new PASTE tool combines precise targeting of CRISPR-Cas9 with integrases to insert large chunks of DNA into the genome without inducing double-stranded breaks. This approach holds promise for treating diseases with multiple mutations, such as cystic fibrosis, with high efficiency and minimal unwanted effects.
Researchers developed a simple urine test to measure cystic fibrosis severity and assess treatment effects. The test reveals the extent to which new treatments are beneficial, correlating with disease severity and lung function.
Oregon State researchers have engineered inhalable lipid nanoparticles that effectively deliver messenger RNA to the lungs, prompting lung cells to manufacture a protein needed to thwarts the disease. The therapy shows promise in treating cystic fibrosis, a progressive genetic disorder affecting 30,000 people in the US.
Newborn screenings for cystic fibrosis are less effective for non-white babies, leading to delayed diagnosis and worse outcomes. Genetic panels used vary by state, excluding common mutations in non-white populations.
A new study reveals that genetic panels used in newborn screening programs favor white populations, leading to delayed diagnoses and worse outcomes for non-white babies. Researchers call for more diverse panels to address these disparities.
A clinical trial is underway to evaluate the safety and efficacy of bacteriophage therapy in adults with cystic fibrosis who carry Pseudomonas aeruginosa. The trial aims to reduce bacterial load in the lungs using a phage cocktail that targets specific bacteria, providing a potential new treatment for difficult-to-treat infections.
Researchers at La Jolla Institute for Immunology have discovered a rare T cell defect tied to the risk of developing MAC disease. People with this defect have fewer specialized Th1* cells, which robs them of an effective immune response to MAC bacteria.
A study led by Oregon State University found that cystic fibrosis patients who supplement their diet with vitamin C can derive greater benefits from vitamin E, resulting in reduced inflammation. The study suggests that high doses of vitamin C may be beneficial in inflammatory conditions.
A recent study by Texas Tech University Health Sciences Center researchers has shed light on the mechanisms of salt transport across membrane barriers. The findings have significant implications for treating cystic fibrosis, a disease caused by mutations in three types of sodium-potassium pumps.
Scientists at Aston University developed a new treatment combining manuka honey with the widely used antibiotic amikacin to treat drug-resistant lung infections. The study found that this combination improved bacterial clearance and reduced side effects, benefiting patients with cystic fibrosis.
A gold standard document provides evidence-driven recommendations for individualized activity and exercise plans in people with cystic fibrosis. The Exeter Activity Unlimited Statement integrates physiological, psychological, and social benefits of being physically active to support clinical teams.
A study by Kumamoto University researchers found that a defective isoform of the SIGIRR gene activates an inflammatory pathway associated with cystic fibrosis. This defect leads to decreased expression and function of anti-inflammatory molecules, resulting in severe inflammation.
Researchers have successfully engineered human immune cells to model an infection common among immunocompromised people, paving the way for new drug testing and treatments. The immune cell type created played a key role in infection, inflammation, and regeneration, but also served as a natural host for germs.
A new combination drug therapy addressing the disorder's underlying defects has been found to be beneficial for primary school-aged children with cystic fibrosis. The study, conducted at Charité – Universitätsmedizin Berlin, confirmed that earlier treatment can slow disease progression and improve lung function and quality of life.
Infants from minoritized racial and ethnic backgrounds receive delayed diagnostic follow-up for cystic fibrosis, leading to worse nutritional outcomes and increased risk of severe complications. The study advocates for timely diagnosis and treatment to achieve equity in care and reduce childhood mortality.
A study published in Nature Physics reveals that specialized cell movement may explain the progression of cancer and cystic fibrosis. Cells with ruffled edges sense viscosity and adapt to increase their speed, moving faster through mucus than blood. This discovery sheds light on disease mechanisms and potential treatments.
Researchers have found that infusing glucagon-like peptide-1 (GLP-1) hormone can improve impaired islet cell function in the pancreas of cystic fibrosis patients, potentially improving blood sugar control and treatment burden. The study suggests a new therapeutic approach for treating cystic fibrosis-related diabetes.
A new treatment approach using antisense oligonucleotides (ASOs) may help reduce cystic fibrosis symptoms and improve quality of life for patients with a specific gene mutation. The ASO strategy tricks cells into making an imperfect but functional version of the CFTR protein, which is better than having none at all.
The Heart and Lung Research Institute (HLRI) at the University of Cambridge will bring together over 380 researchers and clinicians to tackle cardiovascular and respiratory diseases. The institute aims to deliver high-impact research to drive breakthroughs in prevention, early diagnosis, and treatment of these diseases, which represent...
Researchers use computational approach VarC to study the spatial relationships between protein variants, revealing that most cystic fibrosis patients have an unstable inner core. This understanding allows for modeling potential compounds and designing more effective drugs.
Researchers used bacteriophage therapy to treat 20 complex, antibiotic-resistant lung infections in a clinical trial, resulting in no adverse reactions. More than half of treated patients experienced symptom improvement or reduced bacterial presence. The study's findings advance the promise of phage therapy as an alternative to traditi...
Researchers at Aston University have developed a new antibiotic combination that successfully treated a cystic fibrosis patient's deadly lung infection. The combination of imipenem/relebactam with amoxicillin eradicated the infection, enabling the patient to receive a lifesaving lung transplant.
Researchers discovered that hydrating the surface of airways in people with cystic fibrosis restores their protective barrier against bacterial infections. This breakthrough opens the way to new therapies based on mucus hydration, offering a promising alternative to current treatments.
The May issue of the CHEST journal features 56 articles on clinically relevant topics such as asthma, COPD, and critical care. The journal also includes a special Adult Cystic Fibrosis Series with latest epidemiologic data and challenges in managing CF.
Researchers developed a novel drug to reduce airway mucus that exacerbates common lung diseases. The treatment works by blocking the secretion of mucins, which can block airways and cause life-threatening symptoms.
Researchers identified unique metabolite biomarkers associated with increased inflammation and bacterial burden in cystic fibrosis lungs. The study found correlations between metabolites and bacterial communities, shedding light on the underlying mechanisms of infection and inflammation in CF.
A study found that higher doses of antibiotics are needed to eliminate bacterial infections with other microbes present. Researchers developed a model of the human airways to replicate poly-microbial infections, which often persist despite treatment in people with cystic fibrosis and other lung diseases.
A systematic review and meta-analysis of 9,100 cystic fibrosis patients found a positive association between higher body mass index and improved clinical outcomes. The study suggests that maintaining a healthy weight may be beneficial for these patients.
Researchers are exploring how bacteria form biofilms, which can be detrimental to health but also have potential uses in medicine and environmental cleanup. The study aims to understand the mechanisms behind microbial growth in biofilms and develop new materials and treatments.
Researchers at the University of Toronto have identified hundreds of new proteins associated with cystic fibrosis, including those that interact with the CFTR protein. These discoveries may shed light on why some patients respond better than others to current therapies.
Researchers at Rosalind Franklin University have identified a new therapeutic approach for treating cystic fibrosis. The treatment uses antisense oligonucleotides to restore CFTR function by removing stop mutations. This strategy has shown promise in treating CF patients with class I mutations and similar types of mutations.
Researchers at Cold Spring Harbor Laboratory develop a novel method to modify the CFTR gene, allowing for the production of functional protein in patients with certain mutations. The technique involves using antisense oligonucleotides to skip over the mutation and produce a partially functional protein.
A new study reveals that drugs commonly used to treat cystic fibrosis work by aiding protein folding, binding CFTR to ensure proper configuration. This finding may lead to the development of novel medications for diseases caused by misfolded proteins.
Researchers at the University of Missouri have developed a free online resource that speeds up data analysis of human genomes three times faster than current methods. This enables scientists to see how an individual's genome makes them susceptible to different diseases in different ways, ultimately reducing associated costs and increas...
Researchers at Harvard's Wyss Institute have developed a microfluidic Organ Chip device that accurately models cystic fibrosis lung airway pathology. The model replicates key pathological hallmarks, including mucus layer changes and inflammatory responses, providing a comprehensive preclinical human model for investigating new therapies.
Researchers found a higher burden of infection, more inflammation, and lower diversity of microorganisms in children with cystic fibrosis compared to disease controls. This divergence was noted as early as toddlerhood, suggesting potential for earlier treatment and prevention of severe lung disease.
Stem cell researchers have developed a new method to identify and develop personalized therapies for Cystic Fibrosis patients with rare mutations. By growing precursor lung cells from patients' own blood, they can screen for new drugs and validate responses in mature airway cells.
Researchers found that Pseudomonas aeruginosa populations in CF patients' sinuses vary widely, with evolution following two stages: pathoadaptive community formation and fragmentation. This discovery may inform new therapeutic approaches by focusing on strongest evolutionary pressures.
Researchers at USask discovered excessive sodium absorption in small airways of CF patients, providing new insights into the disease. The study's findings have the potential to improve life for people with CF who cannot benefit from existing medications.
Scientists have developed a new therapy that combines bacteriophages with antibiotics to treat antibiotic-resistant infections, specifically targeting Mycobacterium abscessus. The treatment, using the bacteriophage 'Muddy', showed significant improvement in survival rates and severity of infections when paired with rifabutin, demonstra...
Patients with nontuberculous mycobacterial disease are hospitalized sooner and more often than their age- and sex-matched counterparts, according to a study published in CHEST. The risk is higher for people with compromised immune systems or damaged airways.
A clinical trial has shown that a triple combination therapy consisting of elexacaftor, tezacaftor, and ivacaftor is safe and effective in cystic fibrosis patients with rare genetic defects. The treatment improves CFTR function, lung function, and quality of life in these patients.
Researchers from the Hubrecht Institute have successfully corrected mutations that cause cystic fibrosis in cultured human stem cells using prime editing. The technique is safer than CRISPR/Cas9 and shows promise for application in patients, potentially leading to a cure or prevention of genetic diseases.
A new process for making RNA has been developed by researchers at the University of Massachusetts Amherst, yielding purer and more abundant RNA at a fraction of the cost. This breakthrough removes the largest stumbling block on the path to next-generation RNA therapeutic drugs.
Researchers developed a small molecule that reads through premature stop codons in genes, restoring CFTR protein function. The compound, SRI-41315, showed greater readthrough efficiency than its predecessor, SRI-37240, and acted synergistically with G418.
A new study has confirmed that UK children with cystic fibrosis have poorer lung function than their US peers, suggesting differences in treatment patterns may be the cause. The research also found that children in the US received more aggressive mucolytic therapy earlier in life.
A team of researchers has created a molecular catalog of cells in healthy lungs and those affected by cystic fibrosis. The study reveals new subtypes of cells and sheds light on the cellular changes that occur in the airways, providing potential targets for future genetic therapies.
A team of researchers has developed a molecular catalog of cells in healthy lungs and those with cystic fibrosis, revealing new subtypes of cells and how the disease alters their composition. This discovery could help scientists identify prime targets for future genetic therapies.
A recent study has tracked the evolution of a multi-drug resistant organism in cystic fibrosis patients, revealing that it can evolve rapidly within an individual during chronic infection. The researchers emphasize the importance of treating patients with M. abscessus infection immediately.
A recent study published in Radiology found that regular exercise can reduce the long-term risk of bronchiectasis, a potentially serious airway disease. The study, which analyzed data from over 2,000 healthy young adults, found that preservation of cardiorespiratory fitness was associated with lower odds of developing bronchiectasis.
Researchers have discovered a potential new way to treat dry mouth by inhibiting phosphodiesterase-4 (PDE4) enzymes. The findings may also have implications for cystic fibrosis treatment.