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Causative gene of a rare disorder discovered by sequencing only protein-coding regions of genome

For the first time, scientists have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder.

Penn study finds that antioxidant found in vegetables has implications for treating cystic fibrosis

PHILADELPHIA -- Scientists at the University of Pennsylvania School of Medicine discovered that a dietary antioxidant found in such vegetables as broccoli and cauliflower protects cells from damage caused by chemicals generated during the body's inflammatory response to infection and injury.

Bacteria 'launch a shield' to resist attack

Researchers from the University of Copenhagen and the Technical University of Denmark along with other collaborators in Denmark and the US found that the bacterium Pseudomonas aeruginosa can

Protein critical for insulin secretion may be contributor to diabetes

A cellular protein from a family involved in several human diseases is crucial for the proper production and release of insulin, new research has found, suggesting that the protein might play a rol

New clinical guidelines for exacerbations in cystic fibrosis

The American Thoracic Society has released new clinical guidelines for the treatment of exacerbations in cystic fibrosis based on a review of the literature on current clinical practices.

New old drug fights colon cancer

A new Tel Aviv University drug, based on an older generation antibiotic, may provide doctors with an effective and innovative method of treating colon cancer in both its incipient and full-blown stages ― and minimize the need for painful, uncomfortable colonoscopies and surgical polyp removal.

Scientists identify gene for short-circuiting excess mucus in lung disease, common colds

CINCINNATI - Scientists have identified the main genetic switch that causes excessive mucus in the lungs, a discovery that one day could ease suffering for people with chronic lung diseases like asthma and cystic fibrosis, or just those fighting the common cold.

Nanoparticle treatment for burns curbs infection, reduces inflammation

ANN ARBOR, Mich. -- Treating second-degree burns with a nanoemulsion lotion sharply curbs bacterial growth and reduces inflammation that otherwise can jeopardize recovery, University of Michigan scientists have shown in initial laboratory studies.

University of Arizona researchers seek safer cystic fibrosis test

TUCSON, Ariz. -- Researchers from The University of Arizona Colleges of Pharmacy and Medicine are teaming up to try to invent a novel non-invasive lung test for cystic fibrosis sufferers.

Gene variant heightens risk of severe liver disease in cystic fibrosis

CHAPEL HILL, N.C. -- Researchers at the University of North Carolina at Chapel Hill have discovered a genetic risk factor for severe liver disease in people with cystic fibrosis.

New developments in reproductive medicine

Three out of ten women who undergo polar body diagnosis go on to have a child.

Still holding their breath: Mortality on lung transplant wait list remains high for some

Mortality remains high among patients with pulmonary arterial hypertension awaiting lung transplant, despite changes to the allocation system that were designed to reduce mortality and increase the equitable distribution of donor organs, according to new research out of University of California San Francisco.

Faster, cheaper way to find disease genes in human genome passes initial test

University of Washington (UW) researchers have successfully developed a novel genome-analysis strategy for more rapid, lower cost discovery of possible gene-disease links. By saving time and lowering expenses, the approach makes it feasible for scientists to search for disease-causing genes in people with the same inherited disorder but without any family ties to each other.

Duke scientists create airway spheres to study lung diseases

DURHAM, N.C. -- Using both animal and human cells, Duke University Medical Center scientists have demonstrated that a single lung cell can become one of two very different types of airway cells, which could lead to a better understanding of lung diseases.

Common cold virus efficiently delivers corrected gene to cystic fibrosis cells

CHAPEL HILL -- Scientists have worked for 20 years to perfect gene therapy for the treatment of cystic fibrosis, which causes the body to produce dehydrated, thicker-than-normal mucus that clogs the lungs and leads to life threatening infections.



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