DEAR MAYO CLINIC: My grandmother and mother, as well as an aunt and a cousin, have had breast cancer. Another cousin was diagnosed with colon cancer recently. It has been suggested that I undergo genetic counseling to determine ...
Jun 14, 2022
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New research by the Murdoch Children's Research Institute (MCRI) has shown that the combined affected pregnancy rate of cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA) is comparable to the ...
Nov 9, 2017
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Cystic fibrosis is caused by an inherited mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Due to this mutation, the CFTR protein doesn't embed in cell membranes to form a channel for chlorine ...
Dec 10, 2019
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Proteins belonging to the large and important family of ABC transporters have been associated with metabolic diseases and can cause resistance to antibiotics. Biochemists from the University of Zurich and the NCCR Structural ...
Mar 28, 2012
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The patient, a 15-year-old girl, had come to London's Great Ormond Street Hospital for a double lung transplant. It was the summer of 2017, and her lungs were struggling to reach even a third of their normal function. She ...
May 8, 2019
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Researchers exploring the effects of a long-standing treatment for cystic fibrosis have discovered a potential new target for drugs to treat the disease, which has no cure and typically cuts decades off the lives of patients.
Jan 31, 2019
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The color of the phlegm from patients with the lung disease bronchiectasis can indicate the degree of inflammation in their lungs and predict their future outcomes, according to new research presented at the European Respiratory ...
Sep 9, 2023
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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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A phase three clinical trial that UT Southwestern participated in determined that a three-drug combination improved lung function and reduced symptoms in cystic fibrosis (CF) patients who have a single copy of the most common ...
Nov 1, 2019
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Thousands of genes are involved in the regulation of our day-to-day metabolism and relatively little is understood about their function. One key protein, an ABC Transporter called ABCC5, has recently been predicted to be ...
Jul 24, 2019
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