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Latest Channelopathy Stories

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...

2010-02-15 07:53:31

In a study that could lead to new therapeutic targets for patients with the cystic fibrosis, a research team from the University of California, San Diego School of Medicine has identified a defective signaling pathway that contributes to disease severity. In the study, published in the journal Nature Medicine, the researchers report that defective signaling for a protein called the peroxisome proliferator-activated receptor-ÃŽ³ (PPAR-ÃŽ³) accounts for a...

2009-12-28 21:04:45

Inherited mutations in voltage-gated sodium channels (Navs) are associated with many different human diseases, including genetic forms of epilepsy and chronic pain. Theodore Cummins and colleagues, at Indiana University School of Medicine, Indianapolis, have now determined the functional consequence of three such mutations. As noted by Stephen Cannon and Bruce Bean, in an accompanying commentary, these results suggest that there might be a common mechanism for many channelopathies, diseases...

2009-12-23 17:57:00

LOS ANGELES, Dec. 23 /PRNewswire-USNewswire/ -- The 15th annual "Eyes of Christmas" presentation is being telecast over multiple broadcasts, cable and satellite networks, as well as the Internet, to 160 million homes this year. Participating stars and other notables include Celine Dion, Garth Brooks, Reba McIntyre, Sandra Bullock, Tom Hanks, Nicole Kidman, Bob Costas, and Natalie Cole. (Photo: http://www.newscom.com/cgi-bin/prnh/20091223/DC30052) Former President George Herbert Walker...

2009-12-23 14:07:21

Discovery suggests how toxin-filtering cells go awry Researchers from Children's Hospital Boston and Brigham and Women's Hospital have identified an important genetic cause of a devastating kidney disease that is the second leading cause of kidney failure in children, according to The NephCure Foundation. The study, published online December 20 by Nature Genetics, may provide clues to developing treatments for the disease, focal segmental glomerulosclerosis (FSGS), which currently forces...


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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