Navigation Links
Cystic fibrosis testing -- next steps
Date:4/27/2009

San Juan Capistrano, CA and Chantilly, VA Three reports describing advances in cystic fibrosis genetic testing appear in the May 2009 issue of The Journal of Molecular Diagnostics.

Cystic fibrosis is a hereditary disease that affects mucus secretions in the lungs, liver, pancreas, and intestines. Approximately 1 in 4000 children born in the United States is affected with cystic fibrosis. Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene; cystic fibrosis patients must inherit a mutated gene from each parent.

Genetic screening for cystic fibrosis carrier mutations (one copy of a mutated gene) is universally recommended for the reproductive-age population. Current professional guidelines call for screening a panel of 23 common mutations in CFTR; however, many laboratories screen for an expanded panel of mutations. In the May 2009 issue of The Journal of Molecular Diagnostics, three articles describe improvements in cystic fibrosis genetic screening. In one article, Pratt et al describes a project coordinated by the Centers for Disease Control and Prevention's Genetic Testing Reference Material (GeT-RM) Program to develop a set of reference materials for the expanded cystic fibrosis panel of mutations. The public availability of these materials will help to ensure the accuracy of cystic fibrosis genetic testing. The reports by Schwartz et al and Hantash et al identify mutations that may lead to false screening results, either due to a large deletion in CFTR or because of mutations that interfere with laboratory screening methods.

Wayne Grody, of the UCLA School of Medicine, Los Angeles, CA, who is not affiliated with these studies, states "Taken together, these three papers demonstrate how the widespread and thoughtful experience with [cystic fibrosis] mutation testing and screening continues to reveal new insights about the mutational alleles of the C
'/>"/>

Contact: Angela Colmone
acolmone@asip.org
310-634-7953
American Journal of Pathology
Source:Eurekalert

Page: 1 2

Related biology news :

1. Two-pronged model could help foil tough cystic fibrosis infections
2. Nanoemulsion potent against superbugs that kill cystic fibrosis patients
3. New test promises quicker, more accurate evaluation for cystic fibrosis patients
4. New approach to treating cystic fibrosis lung infection shows promise
5. PTC124 shows activity in cystic fibrosis; Phase 2 proof-of-concept data published in Lancet
6. Computer simulations point to key molecular basis of cystic fibrosis
7. Study uncovers clues to cystic fibrosis gene dysfunction and gastrointestinal disease
8. Cystic fibrosis proteins photographed interacting
9. CU-Boulder technology used to identify unexpected bacteria in cystic fibrosis patients
10. Galapagos and Cystic Fibrosis Foundation Therapeutics announce drug discovery collaboration
11. Cystic fibrosis patients may breathe easier, thanks to bioengineered antimicrobials
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/29/2014)... shifts over the last 120,000 years may have ... of researchers led by City College of New ... biodiversity metric called "phylogeographic endemism." , It quantifies ... species is restricted in geographical space. , Dr. ... other researchers from institutions in Brazil, Australia and ...
(Date:8/29/2014)... such as the prolific bloomer Emiliania huxleyi , ... discovered. The finding contradicts the common view that ... on scarce supplies of thiamine in the ocean to ... about the ocean," says CIFAR Senior Fellow Alexandra ... paper with CIFAR fellows John Archibald (Dalhousie ...
(Date:8/28/2014)... called TX Invasives is now available from the Lady ... at Austin for identifying harmful non-native plant, insect and ... the United States cause about $137 billion in economic ... clog waterways, kill native plants and more. , "By ... reporting where invasive species occur, we,re more likely to ...
Breaking Biology News(10 mins):CCNY team defines new biodiversity metric 2Not all phytoplankton in the ocean need to take their vitamins 2Not all phytoplankton in the ocean need to take their vitamins 3Mobile app makes ID of harmful plants, insects in Texas a snap 2
... feed their young less as they reach an age to fly ... leave home, according to new research from the University of Leeds. ... today (05 July) aimed to pinpoint the main trigger which ... life, a process known as fledging. While studying a colony ...
... 2012) A team of international scientists led by ... Cancer Centre, University Health Network, has identified a causative ... and the onset of acute myeloid leukemia (AML), one ... , Called an "oncometabolite" for its role in cancer ...
... University of Adelaide researchers have discovered that recent climate ... in size. The study, which is the first of ... already responding to changes in climate. The results are ... Biology Letters . Researchers analysed leaves from herbarium ...
Cached Biology News:Hormones dictate when youngsters fly the nest, says new research 2Cancer scientists link ‘oncometabolite’ to onset of acute myeloid leukemia 2Shrinking leaves point to climate change 2
(Date:8/29/2014)... Hills, NY (PRWEB) August 29, 2014 ... Burnt Hills Veterinary Hospital are seeking candidates to participate ... dogs with osteoarthritis. The ultimate goal of this ... donor stem cells into one or two arthritically affected ... treated joints. , Candidates for the current investigational ...
(Date:8/28/2014)... August 28, 2014 SPIE Fellow Glenn ... and Optical Science and Director of the Center for ... Carolina at Charlotte, and co-founder and Chairman of the ... as the 2015 Vice President of SPIE, the international ... Philip Stahl announced recent election results at the Annual ...
(Date:8/28/2014)... Spin-charge converters are important devices in spintronics, an ... charge of electrons but also on their spin ... transformation of electric into magnetic signals and vice ... Sinova from the Institute of Physics at Johannes ... the UK, Prague, and Japan, has for the ...
(Date:8/28/2014)... August 28, 2014 Sterlitech is proud ... membranes to its stable of products . ... weight cut-offs and include membrane filters with surface charges. ... in customer demand for our membrane process testing equipment, ... of flat sheet membranes,” explains Sterlitech President Mark Spatz. ...
Breaking Biology Technology:Burnt Hills Veterinary Hospital Seeks Candidates for an Investigational Study of Stem Cells for Dogs with Arthritis 2Glenn Boreman, UNC Professor and Plasmonics Co-Founder, Elected to SPIE Presidential Chain 2A new, tunable device for spintronics 2A new, tunable device for spintronics 3Sterlitech Corporation Enhances Its Selection of Flat Sheet Membrane Filters 2
... Perceptive Informatics, the,industry,s leading eClinical solutions ... (Nasdaq: PRXL ), today announced ... with the EuroQoL Group. The license allows ... measure health-related quality,of life outcomes, through its ...
... NUTLEY, N.J. and BASEL, Switzerland, Jan. 2 Roche ... wholly-owned subsidiary 900 North Point Acquisition Corporation has accepted ... pursuant to its tender offer for all outstanding shares ... MEMY ) at $0.61 per share in cash.As ...
... Results from a landmark trial published today in the ... kidneys preserved and transported in a specially designed machine ... in recovery of kidney function are 43% lower, and ... within a year compared to those stored in the ...
Cached Biology Technology:Perceptive Informatics Enters License Agreement With EuroQoL Group to Provide Enhanced Standardization for ePRO Solution 2Perceptive Informatics Enters License Agreement With EuroQoL Group to Provide Enhanced Standardization for ePRO Solution 3Perceptive Informatics Enters License Agreement With EuroQoL Group to Provide Enhanced Standardization for ePRO Solution 4Perceptive Informatics Enters License Agreement With EuroQoL Group to Provide Enhanced Standardization for ePRO Solution 5Roche Purchases Shares in Tender Offer For Memory Pharmaceuticals Corp. 2Roche Purchases Shares in Tender Offer For Memory Pharmaceuticals Corp. 3Roche Purchases Shares in Tender Offer For Memory Pharmaceuticals Corp. 4Kidneys for Transplant Function Earlier and Last Longer When Preserved in a Machine Compared to the Traditional Box of Ice 2Kidneys for Transplant Function Earlier and Last Longer When Preserved in a Machine Compared to the Traditional Box of Ice 3Kidneys for Transplant Function Earlier and Last Longer When Preserved in a Machine Compared to the Traditional Box of Ice 4Kidneys for Transplant Function Earlier and Last Longer When Preserved in a Machine Compared to the Traditional Box of Ice 5
Anti-ADAMTS-4, disintegrin-like domain Immunogen: Synthetic peptide - KLH conjugated Available Date: 38569...
Rabbit polyclonal to Streptococcus Enterotoxin C ( Abpromise for all tested applications)....
... monoclonal antibody which can immunocapture up to ... mitochondria. Also included are 2 mg of ... Complex V immunocapture kit allows isolation of ... small amounts of tissue. This facilitates subsequent ...
Anti-ADAM-12 (Meltrin Alpha); carboxy terminal end; rabbit host...
Biology Products: