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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.)...

2010-06-14 13:06:09

A new gene explains variability in symptoms Usher syndrome (USH), an inherited condition involving both hearing and vision loss, is not a simply recessively inherited disease, a scientist will tell the annual conference of the European Society of Human Genetics today (Saturday). Dr. Hanno Bolz, Associate Medical Director of the Bioscientia Centre for Human Genetics, Ingelheim, Germany, and active in teaching and research at the University Hospital of Cologne, will say that his team's research...

2010-06-11 01:39:01

An international first: A research team at MUHC/McGill validates the effectiveness of a rapid genome sequencing process for hereditary genetic diseases A research team led by Dr. Nada Jabado at the MUHC and Dr. Jacek Majewski at McGill University has proven for the first time that it is possible to identify any genetic disease in record time thanks to a powerful and reliable exome sequencing method. The exome, a small part of the genome (< 2%), is of crucial interest with regard to...

2010-06-03 04:20:00

TOKYO, June 3 /PRNewswire/ -- We are pleased to announce that the Phase II clinical study of UF-021, product name Ocuseva (TM), which we are developing as a therapeutic drug for retinitis pigmentosa (note 1), has been completed. Retinitis pigmentosa is an intractable disease where therapeutic drugs or therapeutic methods have not been established yet. When the disease of retinitis pigmentosa progresses, the visual field narrows irreversibly and furthermore, in the late stage, they may...

2010-05-17 08:36:47

Patients who encounter serious lung diseases in middle age, despite an absence of family history or other predisposing factors, may still have their genes to blame, according to a new study conducted by researchers at the National Institute of Allergy and Infectious Diseases, part of the National Institutes of Health. The study also determined that the use of a simple screening test may help identify those genetic abnormalities and allow detection before the onset of disease. "Earlier reports...

2010-03-11 08:00:00

WAYNE, N.J., March 11 /PRNewswire/ -- Bayer HealthCare Pharmaceuticals announced today that an orphan drug designation has been granted by the U.S. Food and Drug Administration (FDA) for ciprofloxacin dry powder inhaler (DPI) for management of pulmonary infection due to Pseudomonas aeruginosa in cystic fibrosis (CF) patients. A similar designation has already been granted by the European Medicines Agency. Ciprofloxacin DPI is an investigational drug-device combination that combines...

2010-02-22 20:48:00

CF Foundation's $1 Million Investment Helped Drug Known as Cayston(R) Become a Reality BETHESDA, Md., Feb. 22 /PRNewswire-USNewswire/ -- The U.S. Food and Drug Administration approved an important new inhaled antibiotic called Cayston® (aztreonam for inhalation solution) today for the treatment of cystic fibrosis. The drug was made possible by significant support from the Cystic Fibrosis Foundation, including a $1 million investment by a Foundation subsidiary to help...


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
glogg
  • Scandinavian punch made of claret and aquavit with spices and raisins and orange peel and sugar.
This word comes from the Swedish 'glogg,' which is an alteration of 'glodgat,' mulled (wine).
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