A single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much ...
Dec 20, 2012
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More than 1,200 people with rare diseases have received a diagnosis thanks to the integration of large-scale genomics into the Stockholm region's healthcare system. This is according to a study from Karolinska Institutet ...
Mar 16, 2021
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Advanced computer models of diseases can be used to improve diagnosis and treatment. The goal is to develop the models to "digital twins" of individual patients. Those twins may help to computationally identify and try the ...
Jul 30, 2019
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Whole-genome sequencing can be used to diagnose intellectual disability more accurately than other methods of genetic analysis, researchers at Karolinska Institutet report in the scientific journal Genome Medicine. Whole-genome ...
Nov 7, 2019
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Patients with colon and rectal cancer have somatic insertions of mitochondrial DNA into the nuclear genomes of the cancer cells, University of Alabama at Birmingham researchers report in the journal Genome Medicine.
Apr 12, 2017
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Scientists have developed a computer method that may help improve understanding and treatment of Crohn's disease, which causes inflammation of the digestive tract.
Sep 30, 2019
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Focusing on parts rather than the whole, when it comes to genome sequencing, might be extremely useful, finds research in BioMed Central's open access journal Genome Medicine. The research compares several sequencing technologies ...
Jun 27, 2013
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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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We have all felt the workings of the so called "brain-gut-axis," how our intestines get affected, for example, by stress. But still, researchers don't know a lot about the relation between our gut and our brain.
Aug 15, 2023
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Mendel's laws, like any laws in science, are wonderful because they make predictions possible. A woman and man both carry a recessive mutation in the same gene, and each of their children has a 25% chance of inheriting both ...
Feb 20, 2017
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