20-08-2010

A new, fast way to analyse DNA could be used to sequence the genomes of viruses and in the future help tackle genetic disorders such as schizophrenia and congenital heart defects. Robert Neely and colleagues have used a DNA methyltransferase enzyme to label the 5’-GCGC-3’ DNA sequences with ...

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Scientists combine new and classic approaches to discover rare disease gene

15-07-2010

By inspecting the sequence of all 3 billion “letters” that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation that accounts for the disease. Reporting their results in PLoS Genetics, ...

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06-07-2010

Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found that a certain blood test can successfully identify lymphangioleiomyomatosis (LAM) in some patients, eliminating the need for surgical lung biopsy to make a diagnosis. These findings ...

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01-06-2010

An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities. The work, co-led by geneticists at the University of Leeds, together with colleagues from institutes and universities in Paris, Rome and San Diego, should ...

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24-03-2010

Researchers from Cornell University (NY) provide the first analysis of the function of Bloome syndrome protein (BLM) in mammalian meiosis. Bloome syndrome (BS) is a rare genetic disorder characterized by stunted growth, cancer predisposition, and sterility that is caused by a mutation in the ...

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16-03-2010

Researchers at the University of Calgary have discovered the unique genes that allow the opium poppy to make codeine and morphine, thus opening doors to alternate methods of producing these effective painkillers either by manufacturing them in a lab or controlling the production of these ...

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10-03-2010

Actelion Ltd announced that the company has received a complete response letter from the U.S. Food and Drug Administration (FDA) for its supplemental New Drug Application (sNDA) for Zavesca® (miglustat) for the treatment of progressive neurological manifestations in adult and pediatric ...

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05-03-2010

PTC Therapeutics, Inc. and Genzyme Corporation announced preliminary results from the Phase 2b clinical trial of ataluren, an investigational new drug, in patients with nonsense mutation Duchenne/Becker Muscular Dystrophy (nmDBMD). The primary endpoint of change in 6-minute walk distance did ...

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19-02-2010

BAC BV has extended its collaboration with GE Healthcare with the addition of a new bioprocess affinity chromatography ligand to GE Healthcare’s range of custom designed media. The latest addition to the range is an affinity resin for the purification of alpha-1 antitrypsin (AAT) from blood ...

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22-12-2009

A new pharmaceutical drug which protects people from sunlight may revolutionise preventative treatments for patients with a range of light-sensitive skin disorders. A 12 month trial of the drug, afamelanotide, has just been completed on patients with Erythropoietic Protoporphyria (EPP), a ...

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