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Long QT syndrome approximately affects one in every 2,500 people Â-mainly young people.
Mutations in a gene called INF2 are by far the most common cause of a dominantly inherited condition that leads to kidney failure.
SAN CLEMENTE, Calif., Nov. 29, 2010 /PRNewswire/ -- SURFER Magazine is proud to announce this year's SURFER Poll Agent of Change Award to James Dunlop (Executive Director of MOF) and Charles Dunlop (CEO of Ambry Genetics), founders of the Mauli Ola Foundation (MOF).
An investigational drug targeting a defective protein that causes cystic fibrosis has been shown to improve lung function in a small study of CF patients.
ABBOTT PARK, Ill., Nov. 11, 2010 /PRNewswire/ -- Abbott today awarded the 2010 Thriving Student Achiever Scholarship to Jason Egbert, a student with cystic fibrosis who demonstrates exceptional academic achievement, community service, creative and artistic talent and passion for inspiring others.
A new implant designed to help the blind has allowed three test patients to see the shapes of objects just days after they were fitted with the device.
Today's Scientific Program of the 2010 American Academy of Ophthalmology (AAO) - Middle East-Africa Council of Ophthalmology (MEACO) Joint Meeting includes a report on beta carotene's ability to improve vision in people with certain incurable retinal diseases.
ROCKVILLE, Md., Oct.
Researchers at the University of Massachusetts Medical School (UMMS) believe they may have found a new treatment for retinitis pigmentosa (RP), a severe neurodegenerative disease of the retina that ultimately results in blindness.
An in-depth study of a family with multiple generations affected by kidney disease has identified a previously unknown location for a gene abnormality causing focal segmental glomerulosclerosis (FSGS).
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 ceramic container used inside a fuel-fired kiln to protect pots from the flame.