A new study by National Institutes of Health researchers has turned traditional genomics research on its head. Instead of trying to find a mutation in the genomic sequence of a person with a genetic disease, they sequenced ...
Jun 4, 2015
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French scientists have discovered that supposedly rare mutations in the mitochondria, the 'power plants' of human cells responsible for creating energy, account for more than 7% of patients with a mitochondrial disease manifesting ...
Jun 8, 2013
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As oncologists already know and newly diagnosed lung cancer patients learn, the kind of treatment given to patients is increasingly becoming dependent on the specific gene mutation present in the cancer. But, as lung cancer ...
Feb 15, 2012
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For decades, researchers from all over the world have been working hard to understand Alzheimer's disease. Now, a collaboration between the Department of Biomedicine and the Department of Clinical Medicine at Aarhus University ...
Sep 22, 2022
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The most common kidney disease passed down through families, autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to 1,000 individuals and is characterized by cysts on the kidneys. The condition slowly ...
Oct 24, 2011
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A worldwide consensus co-authored by more than 40 scientists sets out ways to address research bottlenecks as the international community strives to diagnose most rare genetic diseases by 2020.
May 4, 2017
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deCODE Genetics, together with their colleagues from the pharmaceutical company Genentech, reported today in the journal Nature the discovery of a variant of the amyloid precursor protein (APP) gene that confers protection ...
Jul 11, 2012
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A close look at the rapidly developing zebrafish embryo is helping neuroscientists better understand the potential underpinnings of brain disorders, including autism and schizophrenia.
May 23, 2019
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Canadian scientists looking at a rare genetic mutation think they may have discovered the proverbial fountain of youth. But it's not for everyone: so far, the mutation has only been found in a handful of French-Canadian families.
Nov 19, 2020
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Case Western Reserve University is part of a landmark study that has discovered four novel gene variations which are associated with blood pressure. The 19-site meta-analysis, involving nearly 30,000 African-Americans, also ...
Sep 10, 2013
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