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Latest Channelopathy Stories

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...

2009-12-02 19:00:00

Long QT syndrome has been known for decades to trigger sudden fainting spells, dizziness, abnormal heart rhythms and tragically, sudden death. Now researchers from Baylor College of Medicine, in a report that appears in the journal Science Translational Medicine, have linked the most common gene associated with this order with sudden unexplained death in epilepsy as well, giving physicians a tool to identify those most at risk. A potassium channel gene The identification of this particular...

2009-11-15 12:47:26

Targeted postmortem testing to identify genetic mutations associated with sudden unexplained death (SUD) is an effective and less expensive way to determine risk to relatives than comprehensive cardiac testing of first degree relatives, according to research presented at the American Heart Association's Scientific Sessions 2009. Postmortem genetic testing can identify mutations that cause cellular dysfunctions leading to heart rhythm disturbances that can cause sudden cardiac death. Such...

2009-11-05 15:21:00

Study has Important Implications for Genetic Testing and Individualized Medicine ROCHESTER, Minn., Nov. 5 /PRNewswire-USNewswire/ -- Results of a long QT syndrome (LQTS) study published in the current issue of Circulation play an important role in understanding genetic testing's role in diagnosing disease, according to the senior author, Michael Ackerman, M.D., Ph.D. A pediatric cardiologist at Mayo Clinic, Dr. Ackerman directs Mayo's Long QT Syndrome Clinic and is the director of the Mayo...

2009-11-05 14:52:21

Study has important implications for genetic testing and individualized medicine Results of a long QT syndrome (LQTS) study published in the current issue of Circulation play an important role in understanding genetic testing's role in diagnosing disease, according to the senior author, Michael Ackerman, M.D., Ph.D. A pediatric cardiologist at Mayo Clinic, Dr. Ackerman directs Mayo's Long QT Syndrome Clinic and is the director of the Mayo Clinic Windland Smith Rice Sudden Death Genomics...

2009-10-29 07:56:00

MARIETTA, Ga., Oct. 29 /PRNewswire/ -- Solvay Pharmaceuticals, Inc. today announced that Amanda Rudd has been awarded the title of 2009 Thriving Student Achiever for her creative entry expressing her dream for the future. In honor of the 17th year of the SolvayCARES(SM) scholarship program, Amanda was awarded an educational scholarship totaling $17,000. In September, Solvay Pharmaceuticals, Inc. announced that 40 students with cystic fibrosis (CF) who are pursuing higher education had each...

2009-10-22 12:13:10

Electronic eye implanted at NewYork-Presbyterian Hospital/Columbia mimics human retina A 50-year-old New York woman who was diagnosed with a progressive blinding disease at age 13 was implanted with an experimental electronic eye implant that has partially restored her vision. A team led by Dr. Lucian V. Del Priore at NewYork-Presbyterian Hospital/Columbia University Medical Center performed the June 26 surgery -- the first case of its kind in New York. The first treatment aimed at restoring...

2009-10-20 19:16:21

Retinal prosthesis and fetal tissue transplant show promise in human studies Two experimental treatments, a retinal prosthesis and fetal tissue transplant, restored some vision to people with blinding eye diseases. The findings, presented at Neuroscience 2009, the annual meeting of the Society for Neuroscience and the world's largest source of emerging news on brain science and health, may lead to new treatments for the blind. Researchers also reported that an engineered protein restored...


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
mundungus
  • A stinking tobacco.
  • Offal; waste animal product; organic matter unfit for consumption.
This word comes from the Spanish 'mondongo,' tripe, entrails.