Last December, researchers identified more than 1,000 gene mutations in individuals with autism, but how these mutations increased risk for autism was unclear. Now, UNC School of Medicine researchers are the first to show ...
Aug 6, 2015
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(Medical Xpress)—University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body's cells contain three ...
Nov 9, 2012
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If you're going through IVF, you may be offered a test to look at your embryos' chromosomes.
Nov 25, 2019
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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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Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that ...
Feb 26, 2012
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A newly available DNA-based prenatal blood test that can identify a pregnancy with Down syndrome can also identify two additional chromosome abnormalities: trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). The ...
Feb 2, 2012
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Foetuses with a so-called new balanced chromosomal aberration have a higher risk of developing brain disorders such as autism and mental retardation than previously anticipated. The risk is 20 per cent for foetuses with these ...
May 25, 2018
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In a paper published today in the journal Cell, scientists describe unexpected, undesirable outcomes after editing genes in human embryos with CRISPR, a genomic editing system.
Oct 29, 2020
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A Washington State University researcher has found new evidence that the plastic additive BPA can disrupt women's reproductive systems, causing chromosome damage, miscarriages and birth defects.
Sep 24, 2012
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A research group including Kobe University's Professor Takumi Toru (also a Senior Visiting Scientist at RIKEN Center for Biosystems Dynamics Research) and Assistant Professor Tamada Kota, both of the Physiology Division in ...
Jul 9, 2021
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