Latest Channelopathy Stories
A new gene therapy method developed by University of Florida researchers has the potential to treat a common form of blindness that strikes both youngsters and adults.
Scientists at the Salk Institute for Biological Studies have identified a gene that tells cells to develop multiple cilia, tiny hair-like structures that move fluids through the lungs and brain.
A young fit athlete who appears no different from the others on his football team dies suddenly during practice on a hot summer day. What could make this happen?
According to a new study in the journal Nature Medicine, an experimental treatment known as the 'couch potato pill' may also help to prevent heatstroke in people genetically predisposed to it.
Neuroscientists have homed in on potential differences in the brain cells of autistic people by studying brainlike spheres grown in an elaborate process from skin cells.
Hope for better lungs! According to a recent study, the oral medication ivacaftor provides major, sustained improvement in lung function, growth and other signs and symptoms for cystic fibrosis patients.
A new study has confirmed that the drug, ivacaftor (VX-770), significantly improves lung function in some people with cystic fibrosis (CF).
Results of the pivotal Phase 3 clinical trial published in the Nov. 3, 2011 (embargoed 5 pm ET, Nov. 2, '11) New England Journal of Medicine, find that the oral medication ivacaftor (VX-770) provides major, sustained improvement in lung function, growth and other signs and symptoms for cystic fibrosis (CF) patients.
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...
- totally perplexed and mixed up.