The potassium channel KCNQ1 plays a critical role in the cardiac action potential—the electrical activity underlying heart muscle contraction. Inherited mutations resulting in loss of channel function or gain of function ...
Apr 16, 2021
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6
In Norway, all newborn children are tested for 25 rare genetic diseases through the Newborn Screening program, and the most common of these is phenylketonuria (abbreviated to PKU), known as Folling Disease.
Apr 7, 2021
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A novel mechanism has been identified that might explain why a rare mutation is associated with familial Alzheimer's disease in a new study by investigators at the University of Chicago. The paper, published on April 2 in ...
Apr 2, 2021
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Leigh syndrome is the most severe mitochondrial disease in children. It causes severe muscle weakness, movement defects, and intellectual disabilities. It usually leads to death within the first years of life. No causative ...
Mar 26, 2021
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A study of young men with COVID-19 has revealed a genetic variant linked to disease severity.
Mar 23, 2021
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A rare disease first identified in 2020 is much more common than first thought, say researchers at the University of Leeds investigating its origins.
Mar 11, 2021
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Just because you are exposed to a pathogen does not mean you will become sick. Increasingly, scientists have shown that genetics play a central role in determining whether the pathogens that cause a wide range of disease—including ...
Mar 10, 2021
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A study published in the journal eLife made all the possible mutations in the amyloid beta peptide and tested how they influence its aggregation into plaques, a pathological hallmark of Alzheimer's disease. The comprehensive ...
Mar 9, 2021
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Prior to the emergence of new mutants of the coronavirus, such as the British variant B.1.1.7, the SARS-CoV-2 variant named D614G had already mutated from the original SARS-CoV-2 pathogen that triggered the pandemic. D614G ...
Feb 26, 2021
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Primary sclerosing cholangitis, or PSC, is a rare chronic inflammatory disease of the bile ducts. It normally debuts in young adults and two thirds of patients are men. In most cases, the patient also has an inflammatory ...
Feb 25, 2021
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