Articles tagged with Cystic Fibrosis
Engineers have refined a technology to edit individual genetic base pairs, reducing unintended edits and increasing safety for potential treatments. The new base editors could lead to better outcomes for some cystic fibrosis patients and more accurate models for drug testing.
A new study found that young adults with complex childhood-onset conditions experience longer hospital stays, higher readmission rates, and greater use of resources in adult hospitals. These patients account for 6.7% of young adult hospitalizations but occupy 10.7% of all hospital bed-days.
A multi-site study led by CU Anschutz researchers found that people with cystic fibrosis who start triple-drug therapy elexacaftor/tezacaftor/ivacaftor (ETI) can safely reduce many daily lung treatments while maintaining good health for years. The study showed a steady decline in the use of chronic respiratory therapies, including hype...
Researchers at California NanoSystems Institute discover how Pseudomonas aeruginosa uses mechanical sensing to detect and bind to sugar trails, forming deadly biofilms that are resistant to antibiotics. This breakthrough could lead to new treatments for cystic fibrosis patients and other biofilm-related infections.
Researchers at Carnegie Mellon University's Ren lab have developed AggreBots, microscale living robots made from human lung cells that can be controlled to deliver therapeutic or mechanical interventions. The biobots use cilia, nanoscopic hair-like propellers, for movement and can be programmed to perform specific tasks.
Researchers at UC San Diego have created a new genetic editing approach that uses small nuclear RNA base editing, which can modify the genetic code with greater precision and safety than CRISPR. This method has the potential to treat various diseases, including neurodegenerative, cardiovascular, and immune disorders.
Dr. Michael Welsh's research on cystic fibrosis paved the way for a triple-drug combination therapy that has transformed CF from a fatal condition into a manageable one for over 90% of patients. His work also revealed the function and 'broken' nature of the CFTR protein, laying the foundation for targeted therapies.
Researchers have identified a previously unknown organelle called the hemifusome that plays a crucial role in cellular sorting and recycling. This discovery could lead to targeted treatments for complex genetic disorders like Hermansky-Pudlak syndrome, which affects multiple systems in the body.
Researchers have made a breakthrough in understanding the molecular determinants of drug response in cystic fibrosis patients who are resistant to current treatments. By analyzing CFTR mutations, they found that some proteins can be 'corrected' and respond to FDA-approved corrector drugs.
Researchers at the University of Groningen discovered that mefloquine can enhance the effect of aminoglycosides to override faulty stop signals in proteins. This could lead to the development of new drugs tackling genetic diseases.
The updated guidelines call for uniform screening protocols in all states, recommending that IRT screening labs run twice a week and screen for all mutations known to cause cystic fibrosis. This can lead to earlier diagnosis and better treatment outcomes for newborns with the disease.
A new guideline recommends testing for all CF-causing gene variants, including those less common in people of color. Genetic sequencing can be used as an intermediate improvement strategy if not all variants are included in the panel. Early coordination between public health departments and specialists is crucial for timely diagnosis.
A new study reveals a previously unexplored mode of protein regulation in cystic fibrosis, opening up a target for future therapies. The research finds that CFTR proteins form clusters on cell membranes, which are disrupted in people with the condition.
Research suggests that CFTR modulators improve lung function during pregnancy and are likely safe for exposed babies. The study analyzed data from 307 pregnancies between 2010 and 2021 and found better maternal health outcomes for those using highly effective CFTR modulators.
A new gene therapy has been trialled in humans with cystic fibrosis, aiming to improve lung function and reduce exacerbations. The treatment, BI 3720931, works by inserting a functioning copy of the CFTR gene into patients' airways.
A Dartmouth-led study reveals that cystic fibrosis disrupts the maturation of the gut microbiome in infants, leading to a depletion of health-associated bacteria and potentially poor health outcomes. The study found that the microbiomes of infants with CF remained stunted or delayed in their development compared to healthy infants.
Researchers at TUM found that cystic fibrosis causes changes in the immune system as early as birth, leading to frequent inflammation and infections. These changes are not affected by CFTR modulator therapies.
The Lurie Children's hospital has launched a newborn screening awareness campaign, urging parents to contact their pediatrician if results are out of normal range. Timely diagnosis and early treatment are crucial for conditions like cystic fibrosis, where delays can lead to more severe disease.
Researchers have developed a rabbit model to study CF-related pancreatic endocrine pathology, offering new insights into the disease's pathophysiology. The model identifies an indeterminate glucose tolerance stage in young CF rabbits, mirroring early signs of diabetes progression in humans.
A team of researchers at Vanderbilt University has developed robotic sensory cilia that can monitor mucus conditions in human airways, detecting infection, obstruction, and disease severity. The technology leverages external magnetic fields to sense mucus viscosity and layer thickness, paving the way for real-time monitoring and early ...
Researchers found that reducing sialic acid levels on MUC5B mucin protein can alter its structure, leading to entangled polymers and impaired mucus transport. This study identifies a possible therapeutic strategy for treating cystic fibrosis and other muco-obstructive diseases.
A University at Buffalo psychiatrist has been awarded $3 million to focus on the mental health of children with cystic fibrosis. The study will evaluate national prevalence of mental health concerns in children under 12, identify best screening methods and characterize issues seen in treated children. Early identification and addressin...
A new study found that cystic fibrosis patients with more severe disease characteristics exhibit shorter leukocyte telomere length and greater LTL attrition. This association may accelerate aging and increase susceptibility to age-related diseases, emphasizing the importance of early CF diagnosis and timely therapeutic intervention.
Scientists from Spirovant Sciences describe a novel adeno-associated virus (AAV) gene therapy called SP-101 that has been optimized for efficient human airway cell transduction. After single dose inhaled delivery, the vector showed consistent expression of a functional and regulated shortened human CFTR minigene.
A study found that dogs with a gallbladder disease similar to human cystic fibrosis have impaired CFTR function, not a genetic mutation. This discovery could lead to new treatment targets and insights into the underlying causes of CF-like diseases.
Researchers at Broad Institute of MIT and Harvard have developed a gene-editing approach that efficiently corrects the most common mutation causing cystic fibrosis, found in 85% of patients. The new method precisely and durably corrects the mutation in human lung cells, restoring cell function to levels similar to Trikafta.
A recent observational study shows that the new treatment significantly improves the health status of school-aged children with cystic fibrosis. The results, published in the European Respiratory Journal, have been a game-changer for most patients.
A recent study mapped the evolution of Pseudomonas aeruginosa, a deadly bacterium that causes devastating infections in people with underlying lung conditions. The researchers found that almost seven in ten infections are caused by just 21 genetic clones, which have rapidly evolved and spread globally over the last 200 years.
Researchers have identified two distinct types of dysbioses in cystic fibrosis, which differ in their ecological organization and response to treatment. These findings suggest that antimicrobial drugs may be more effective in hierarchically organized microbiota, potentially leading to improved treatment outcomes for patients.
A new Dartmouth-led study has provided new insights into the therapeutic potential of bacteriophage therapy for treating diseases like cystic fibrosis. Researchers found that respiratory epithelial cells sense and respond to therapeutic phages, and interactions between phages and epithelial cells are heterogenous in nature.
A national survey of nearly 1,600 US parents found that most lack knowledge about newborn screening and cystic fibrosis, leading to difficulties in understanding abnormal test results. The study emphasizes the need for greater public awareness and support from healthcare teams to improve outcomes for infants with cystic fibrosis.
Despite therapy, cystic fibrosis patients still suffer from persistent respiratory infections due to unregulated cell signals. By studying lung cells, scientists found a disruption in TGF-β and Wnt pathways, leading to bacterial docking station formation.
University of Calgary researchers found that communication between the lungs and brain triggers symptoms of sickness, changing treatment approaches for respiratory infections and chronic conditions. The study also suggests targeting neurological pathways alongside antibiotics to combat infections.
Researchers found that secreted products from certain bacteria strains can reduce inflammation in gut-derived cell lines and improve airway health in mice with cystic fibrosis. The study suggests probiotics could be beneficial for kids with CF, providing a potential proof of concept.
Researchers have made a breakthrough in developing genetic treatments for hereditary conditions like cystic fibrosis and inherited vision loss. They created a new type of lipid nanoparticle, called Thio-lipids, that can deliver therapeutic payloads to the lungs and retina.
Researchers at the University of Pennsylvania have developed a new method to efficiently determine which lipid nanoparticles are likely to bind to the lungs, rather than the liver. This breakthrough enables targeted delivery of mRNA therapeutics beyond the liver, offering new hope for treatments of cystic fibrosis and lung cancer.
Researchers at University of Queensland have discovered a zinc pathway defect in immune cells of people with cystic fibrosis, leading to increased susceptibility to bacterial infections. The team identified a potential solution by restoring the macrophages' ability to kill bacteria with a zinc transport protein.
A ground-breaking study published in Nature Communications sheds light on the intricate mechanisms underlying the virulence of Aspergillus fumigatus, specifically focusing on the crucial role of mycotoxin gliotoxin production. The research team identified pivotal roles played by GliT oxidoreductase and GtmA methyltransferase in the sel...
Researchers have engineered a living material resembling human phlegm to study polymicrobial biofilms in cystic fibrosis patients. The material, which grows 3D biofilms in a controlled manner, will help experts understand how these structures form and develop effective treatments.
Researchers at the University of Iowa have discovered that rare lung cells called pulmonary ionocytes mediate chloride and water absorption in airway surfaces. This unexpected function challenges previous assumptions about cystic fibrosis treatment.
A University at Buffalo-led research team has developed molecules that can transport chloride ions across cell membranes, increasing airway surface liquid and restoring normal mucus clearance in cystic fibrosis cells. The synthetic anion binders offer a new potential treatment for the chronic disease.
Five lung stem cell variants dominate CF lungs, causing inflammation, fibrosis, and mucin secretion. CFTR modulators fail to suppress these inflammatory variants, suggesting they as key targets for new drugs.
A new NIH study found that high levels of certain minerals and metals in environmental water supplies may increase the risk of nontuberculous mycobacteria pulmonary infections in people with cystic fibrosis. The presence of sulfate, vanadium, and molybdenum was positively associated with increased incidence of lung infections.
The new guidelines aim to ensure all individuals with cystic fibrosis have access to regular exercise testing and individualized exercise advice. The document provides comprehensive recommendations and instructions for health professionals, addressing inconsistencies in previous testing and promoting improved treatment outcomes.
Researchers found that clinical strains of Aspergillus fumigatus differ significantly from environmental strains in amino acid synthesis. The fungus appears to shape the lung microbiome to its advantage, surviving on vital metabolites produced by other microorganisms.
A new study by Dr. Stacey Martiniano found that late diagnosis of cystic fibrosis due to delays in evaluation after a positive newborn screen test results in poorer long-term nutritional outcomes, including reduced weight-for-age and height-for-age. Early initiation of CF care is essential to improve health outcomes in infants with CF.
A new study published in The Journal of Pediatrics highlights the importance of timely newborn screenings in early care for cystic fibrosis. Late diagnosis can negatively affect short- and long-term growth and health outcomes in infants with cystic fibrosis, according to the research.
A scorpionfish protein has been found to effectively kill antibiotic-resistant bacteria from patients with cystic fibrosis, escaping an immune response that renders the human version of the protein ineffective. This discovery may provide new therapeutic options for treating chronic bacterial infections in people with cystic fibrosis.
Researchers found that a triple combination therapy of elexacaftor, tezacaftor, and ivacaftor improves lung function and reduces inflammation in patients with cystic fibrosis. The treatment's positive effects last over 12 months, offering hope for better management of the disease.
Researchers at Georgia Institute of Technology have discovered a gene that drives the switch between chronic and acute P. aeruginosa infections. The gene encodes a small RNA called SicX, which plays a vital role in bacterial respiration under low oxygen conditions.
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.
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.
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.
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.