News tagged with rare genetic disease

New genetic cause of warburg micro syndrome identified

A collaborative team of researchers led by researchers at the Medical College of Wisconsin and the University of Edinburgh has identified a gene responsible for Warburg Micro syndrome, a rare genetic disease characterized ...

Nov 14, 2013
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Skin cell defect is surprising allergy trigger

In a new study published in Nature Genetics, Northwestern Medicine and Tel Aviv University scientists have found that a structural defect in skin cells can contribute to allergy development, including skin and food allerg ...

Aug 26, 2013
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Protalix signs supply deal with Brazilian govt

Shares of Protalix BioTherapeutics Inc. jumped in premarket trading Wednesday after the drug developer announced a deal that requires the Brazilian government to buy at least $280 million of the company's Gaucher disease ...

Jun 19, 2013
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New subtype of ataxia identified

Researchers from the Germans Trias i Pujol Health Sciences Research Institute Foundation (IGTP), the Bellvitge Biomedical Research Institute (IDIBELL), and the Sant Joan de Déu de Martorell Hospital, has identified a new ...

Apr 29, 2013
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Gene controls three different diseases

An international research consortium led by the Universitat Autònoma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending ...

Apr 25, 2013
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Science of genome-sequencing marks 10 years

A decade after completion of the Human Genome Project on April 14, 2003, a top official of the National Institutes of Health surveyed the rarefied view from that mountaintop:

Apr 15, 2013
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