A Northwestern University-led research team has developed a novel skin-mounted sticker that absorbs sweat and then changes color to provide an accurate, easy-to-read diagnosis of cystic fibrosis within minutes.
Mar 31, 2021
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Scientists said Monday they had found a handful of healthy people each carrying a genetic mutation that should have condemned them to crippling disease or death.
Apr 11, 2016
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For many inherited diseases, such as cystic fibrosis or Huntington disease, the disease-causing genetic mutation damages or removes a protein that has an essential role in the body. This protein defect is the root cause of ...
Aug 8, 2013
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Researchers at Harvard Medical School and Children's Hospital Boston have retraced the evolution of an unusual bacterial infection as it spread among cystic fibrosis patients by sequencing scores of samples collected during ...
Nov 13, 2011
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Investigators from Mass General Brigham and Beth Israel Deaconess Medical Center have developed STITCHR, a new gene editing tool that can insert therapeutic genes into specific locations without causing unwanted mutations. ...
Apr 9, 2025
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Despite new medication, cystic fibrosis often leads to permanent lung damage. Working with an international team, researchers from the Technical University of Munich (TUM) have discovered that the disease causes changes in ...
Feb 6, 2025
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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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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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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
