A novel study involving fruit flies and mice has allowed biologists to identify two critical genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality and death in ...
Nov 4, 2011
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(Medical Xpress) -- Two new independent research groups looking to find the genetic roots of schizophrenia and bipolar disorder have found evidence of variations in regions of the human genome that appear to be associated ...
In one of the first studies of its kind, UCLA researchers used a unique brain scan to assess the levels of amyloid plaques and neurofibrillary tangles -- the hallmarks of Alzheimer's disease -- in adults with Down syndrome.
Jun 13, 2011
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Scientists from the Walter and Eliza Hall Institute and the University of Melbourne have used innovative new technologies to identify the gene responsible for a rare but fatal hereditary brain disorder. The discovery will ...
May 5, 2011
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Researchers from the University of Michigan have found that an extra copy of a gene in Down syndrome patients causes improper development of neurons in mice.
Apr 20, 2023
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Using nanopore sequencing, a rapid third-generation cytogenetic analysis tool, investigators are now able to accurately detect specific genomic disorders in a fraction of the time it takes to conduct traditional and molecular ...
Jun 13, 2022
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Researchers from the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia (CHOP) have developed a comprehensive sequencing test specifically for mitochondrial DNA (mtDNA). This new clinical diagnostic ...
Jan 25, 2022
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Cancer remodels the architecture of our chromosomes so the disease can take hold and spread, University of Virginia researchers have revealed.
Oct 27, 2020
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New insight on differences in the brains of men and women with autism has been published today in the open-access journal eLife.
Aug 4, 2020
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Down's syndrome – also known as trisomy 21 – is a genetic disorder caused by an additional third chromosome 21. Although this genetic abnormality is found in one out of 700 births, only 20 percent of foetuses with trisomy ...
Jan 19, 2018
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