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Mutations in genes essential to survival are behind so-called orphan diseases, explaining in part why these diseases are rare and often deadly.
BETHESDA, Md., June 9, 2011 /PRNewswire-USNewswire/ -- Vertex Pharmaceuticals Incorporated and the Cystic Fibrosis Foundation today announced promising results from an ongoing Phase 2 study evaluating combinations of VX-770 and VX-809, potential medicines designed to treat the defective protein that causes cystic fibrosis. The study enrolled 62 people with two copies of the most common CF mutation, known as Delta F508.
Franchise locations across North America to host fundraiser in support of local charities To view the Social Media Release, click here: http://smr.newswire.ca/en/carstar-automotive-canada/carstar-collision-centres-to-break-guinness-record HAMILTON, ON, June 7, 2011 /PRNewswire/ - On Saturday, June 11, CARSTAR Collision Centres in Canada and the United States will aim to break the Guinness World Record for the World's largest car wash by washing more than 4,100 cars in eight hours at...
While many 16-year-olds are content with PlayStation, Toronto-area student Marshall Zhang used the Canadian SCINET supercomputing network to invent a new drug cocktail which could one day help treat cystic fibrosis.
OMAHA, Neb., May 4, 2011 /PRNewswire/ -- Transgenomic, Inc. (OTC/BB: TBIO) announced a significant enhancement to its FAMILION Brugada Syndrome (BrS) test panel at the 2011 Heart Rhythm Society meeting in San Francisco.
Prospects for recovery of lost vision have brightened with the release of new scientific findings showing that the use of gentle near infra-red light can reverse damage caused by exposure to bright light, up to a month after treatment.
Vanderbilt University researchers have identified a new gene that can influence a person's risk for developing epilepsy.
University of Manchester scientists have led an international team to discover new treatments for a rare and potentially lethal childhood disease that is the clinical opposite of diabetes mellitus.
Patients on drug had significant weight gain, reduced sweat chloride and were less likely to experience a pulmonary exacerbation BETHESDA, Md., Feb.
Long QT syndrome approximately affects one in every 2,500 people Â-mainly young people.
Cystic fibrosis, also called mucoviscidosis, is an autosomal recessive genetic disorder of the viscous secretions in the body. In turn, it effects the lungs, pancreas, liver, and intestines, as well as all other exocrine glands in the body. The most common genetic mutation that causes CF is a deletion of three nucleotides that results in a loss of phenylalanine, an amino acid at the 508th position on the protein. It should be noted, however, that there are over a thousand other mutations that...
- A serpent whose bite was fabled to produce intense thirst.