You might have heard the term "RNA" recently thanks to the development of the Pfizer and Moderna mRNA vaccines, which protect against COVID-19. But the potential medical uses of RNA molecules go much further than vaccines.
Apr 09, 2021
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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 07, 2021
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As part of an international collaboration, researchers from ELTE Eötvös Loránd University developed a new animal model to study a rare genetic disease that can lead to blindness at the age of 40-50. The new model could ...
Apr 06, 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 02, 2021
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In the first study to use whole genome sequencing (WGS) to discover rare genomic variants associated with Alzheimer's disease (AD), researchers have identified 13 such variants (or mutations). In another novel finding, this ...
Apr 02, 2021
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Scientists have discovered a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.
Mar 31, 2021
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Primary sclerosing cholangitis (PSC) is a rare chronic inflammatory disease of the bile ducts and is difficult to treat, since its causes have not yet been adequately researched. Using RNA sequencing, an international research ...
Mar 30, 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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Tuberculosis remains a rare disease in the United States, but when it does occur, delays in diagnosing it often exceed recommendations by the World Health Organization, according to a new report by Harvard Medical School ...
Mar 22, 2021
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