Washington: A group of researchers have made a significant breakthrough for figuring out which mutations are benign and which are deleterious in cystic fibrosis.Researchers have now raised the number of known CF-causing mutations from 22 to 127, accounting for 95 percent of the variations found in patients with CF.The scientists said that characterizing those additional mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene will not only bring certainty to families about a CF diagnosis or carrier status, but will also accelerate the design process for new drugs tailored to a particular mutation.Garry Cutting, M.D., professor of pediatrics in the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine, said that since not all mutations cause disease, sequencing the DNA in both copies of your CFTR gene and finding an abnormality in one wouldn`t tell us if you are a carrier for CF unless we knew if that abnormality causes CF.
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