Scientists at La Trobe University have created a world-first method to investigate "disordered" proteins in living cells, in research that could change how we understand and treat Parkinson's disease.
Nov 26, 2024
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In a recent study, researchers at the University of California, San Diego, have provided new insights into the central role of goblet cells—specialized cells that line the gut—in maintaining a healthy and balanced immune ...
Nov 12, 2024
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Xiaoguang Dong, assistant professor of mechanical engineering at Vanderbilt University, is leading a team of researchers that has developed a system of artificial cilia capable of monitoring mucus conditions in human airways ...
Nov 7, 2024
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University of Wisconsin–Madison researchers are warning that artificial intelligence tools gaining popularity in the fields of genetics and medicine can lead to flawed conclusions about the connection between genes and ...
Nov 4, 2024
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An international team led by researchers at the University of Toronto and the Broad Institute of MIT and Harvard has assembled the first large-scale, publicly available map to show the impact of mutations on where proteins ...
Oct 25, 2024
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Gene-editing therapies—techniques that modify DNA to treat or prevent disease—have the potential to transform the field of drug development. By making precise edits to the genome, problematic genes could be modified or ...
Oct 21, 2024
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The question of what causes complex neurological diseases such as Alzheimer's or multiple sclerosis continues to confound scientists and doctors, with the unknowns standing in the way of early diagnoses and effective treatments.
Oct 17, 2024
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With each breath, a human may inhale thousands of harmful microbes into the lungs. Mucus, the gel-like moist substance coating the airways, is one of the first lines of defense and aids in removal of these microbes. It entraps ...
Sep 24, 2024
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National Institutes of Health (NIH) researchers have discovered that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less ...
Aug 14, 2024
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A drug commonly used to treat cystic fibrosis improved outcomes for patients with severe COVID-19 pneumonia and could be used to treat other respiratory infections, according to clinical trial results from researchers at ...
Jul 16, 2024
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Cystic fibrosis (also known as CF or mucoviscidosis) is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across epithelium, leading to thick, viscous secretions.
The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with, though not cured by, antibiotics and other medications. Other symptoms, including sinus infections, poor growth, diarrhea, and infertility affect other parts of the body.
CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally and therefore has autosomal recessive inheritance.
CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF.
The World Health Organization states that "In the European Union 1 in 2000-3000 newborns is found to be affected by CF".
Individuals with cystic fibrosis can be diagnosed before birth by genetic testing, or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens.
This text uses material from Wikipedia licensed under CC BY-SA
