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[ New Study Questions Value Of Expanded Genetic Testing For Cystic Fibrosis ]

New Study Questions Value Of Expanded Genetic Testing For Cystic Fibrosis

Testing for genetic mutations beyond those medically recommended is unlikely to prevent the birth of children with classic cystic fibrosis and may detect mutations causing only mild disease, according to a study published online in Genetics in Medicine, the official publication of the American College of Medical Genetics (ACMG). The findings raise the possibility that expanded panels may promote ill-informed decisions and anxiety for physicians and couples seeking testing to determine their risk of passing the disease to their children. The study, performed by scientists at Quest Diagnostics (NYSE: DGX), is believed to be the largest on an ethnically diverse American population. It involved analyses of more than three million de-identified test results performed by the company's laboratories over an eight-year period ending in April 2010.

Aiming To Combat Cystic Fibrosis, UBC Has Launched Initiative With CCFF, CDRD

The University of British Columbia, in partnership with the Canadian Cystic Fibrosis Foundation (CCFF) and the Centre for Drug Research and Development (CDRD), has launched the Cystic Fibrosis Technology Initiative (CFTI) to advance Canadian technologies that will help combat cystic fibrosis (CF). The initiative, supported by a $750, 000 grant from CCFF, will assemble researchers and identify promising discoveries from across Canada to create new medicines for a disease that affects thousands of Canadians. Potential therapies will be assessed, and those selected will then be developed using the facilities and expertise at CDRD, a national Centre of Excellence for Commercialization and Research hosted at UBC. "The initiative provides a unique opportunity in Canada for researchers to achieve the common goal of rapidly developing cystic fibrosis treatments to improve health in Canada and beyond, " says J.

How Cells Export And Embed Proteins In The Membrane

Like an overprotective parent on the first day of school, a targeting factor sometimes needs a little push to let go of its cargo. Scientists at the European Molecular Biology Laboratory (EMBL) in Grenoble, France, have visualised one such hand-over. They were the first to determine the structure of a ribosome-protein complex involved in carrying nascent proteins out of the cell. Their work, published online in Nature Structural and Molecular Biology, could increase understanding of illnesses such as cystic fibrosis and some forms of Parkinson's disease, in which improper protein targeting leads proteins to harmfully accumulate inside cells. In most organisms, proteins destined to cross or be embedded in a membrane contain a polypeptide sequence that is recognized during translation by a targeting factor known as the signal recognition particle (SRP).

Novel Drug Offers Hope For Early Intervention In Cystic Fibrosis Patients

Cystic fibrosis (CF) patients with normal to mildly impaired lung function may benefit from a new investigational drug designed to help prevent formation of the sticky mucus that is a hallmark of the disease, according to researchers involved in a phase 3 clinical trial of the drug. Called denufosol, the investigational medication can be given early in the CF disease process, and may help delay the progression of lung disease in these patients, the researchers found. The findings were published online ahead of the print edition of the American Thoracic Society's American Journal of Respiratory and Critical Care Medicine. "Although the lungs of children with CF are thought to be normal at birth, studies have demonstrated significant lung damage that occurs early in life in children suffering from cystic fibrosis, " said lead investigator Frank Accurso, MD, professor of pediatrics, University of Colorado School of Medicine, Denver.

TIGER-1 Denufosol Phase 3 Trial For Cystic Fibrosis Published In The American Journal Of Respiratory And Critical Care Medicine

Inspire Pharmaceuticals, Inc. (NASDAQ: ISPH) announced that the results from its first Phase 3 clinical trial with denufosol tetrasodium for cystic fibrosis (CF), TIGER-1, have been published in the peer-reviewed publication, American Journal of Respiratory and Critical Care Medicine (AJRCCM). Denufosol is an investigational, inhaled, novel ion channel regulator currently in Phase 3 clinical development for the treatment of CF. The article entitled, "Denufosol Tetrasodium in Patients with Cystic Fibrosis and Normal to Mildly Impaired Lung Function" (Frank J. Accurso, M.D.; Richard B. Moss, M.D.; Robert W. Wilmott, M.D.; Ran D. Anbar, M.D.; Amy E. Schaberg, BSN, RN; Todd A. Durham, M.S.; Bonnie W. Ramsey, M.D.; and the TIGER-1 Investigator Study Group), appeared today online ahead of the print edition.

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