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Latest Channelopathy Stories

2011-01-21 14:34:57

Screening may be warranted when the disease runs in families Mutations in a gene called INF2 are by far the most common cause of a dominantly inherited condition that leads to kidney failure, according to a study appearing in an upcoming issue of the Journal of the American Society Nephrology (JASN). The results may help with screening, prevention, and therapy. Focal segmental glomerulosclerosis (FSGS) attacks the kidney's filtering system and causes serious scarring. Approximately 20,000...

2010-11-29 16:00:00

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). The Foundation will benefit from the proceeds of VIP table sales, and their award will be presented on December 6, 2010 at the 40th annual event. The Agent of Change Award honors organizations and individuals who are working...

2010-11-18 14:01:24

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, according to findings published Nov. 18, 2010, in the New England Journal of Medicine. The investigational drug, VX-770, appeared to improve function of what is known as CFTR--the faulty protein responsible for CF. It is among the first compounds being developed for CF that specifically targets the root cause of cystic fibrosis. Patients...

2010-11-11 09:00:00

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. Jason Egbert from Rexburg, Idaho, was selected for the Thriving Student Achiever Scholarship from a group of 40 outstanding students with cystic fibrosis (CF) who were awarded scholarships...

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2010-11-03 09:20:00

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, research published in the British scientific journal Proceedings of the Royal Society B has revealed. The implants, which were developed by engineers at German's University of Tuebingen and medical technology firm Retina Implant AG, represent "an unprecedented advance in electronic visual prostheses" and could "eventually revolutionize the...

2010-10-18 13:56:14

Oct. 18 AAO-MEACO 2010 Joint Meeting scientific program 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. The AAO-MEACO meeting"“the world's largest, most comprehensive ophthalmic education conference"“is in session October 16 through 19 at McCormick Place, Chicago. 9-cis...

2010-10-04 10:26:00

ROCKVILLE, Md., Oct. 4 /PRNewswire-USNewswire/ -- Human growth hormone can be used successfully to treat some symptoms of cystic fibrosis, but its impact on the disease itself remains unknown, according to a new report funded by HHS' Agency for Healthcare Research and Quality (AHRQ). Cystic fibrosis is an inherited chronic multi-organ disease, caused by a defective gene, in which the body produces thick mucus that clogs the lungs and leads to life-threatening lung infections. The disease...

2010-07-22 01:49:05

UMass Medical School coordinating a $2.1 million three-year clinical trial 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. One of the more common retinal degenerative diseases, RP is caused by the death of photoreceptor cells and affects 1 in 4,000 people in the United States. RP typically manifests in young...

2010-07-09 13:32:21

Discovery may provide clues to disease mechanisms and new treatments for focal and segmental glomerulosclerosis 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), according to a study appearing in an upcoming issue of the Journal of the American Society of Nephrology (JASN). "We identified a region in the human genome on chromosome 2p that is...

2010-07-07 15:45:15

Japanese team hopes new discovery will aid in creation of therapies for visual, hearing problems It's safe to say that cilia, the hairlike appendages jutting out from the smooth surfaces of most mammalian cells, have long been misunderstood "“ underestimated, even. Not to be confused with their whiplike cousins flagella, which propel sperm, one type of cilia has been known to serve as microscopic conveyor belts. (Picture cilia reaching up like concertgoers supporting a crowd-surfer.)...


Latest Channelopathy Reference Libraries

Cystic Fibrosis
2013-07-19 15:03:45

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...

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Word of the Day
cruet
  • A vial or small glass bottle, especially one for holding vinegar, oil, etc.; a caster for liquids.
This word is Middle English in origin, and ultimately comes from the Old French, diminutive of 'crue,' flask.
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