Most human cells have 23 pairs of chromosomes. Any deviation from this number can be fatal for cells, and several genetic disorders, such as Down syndrome, are caused by abnormal numbers of chromosomes.
May 13, 2019
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Rett syndrome is a rare, progressive neurodevelopmental disorder that typically affects girls, causing severe intellectual disability, loss of motor skills, and autism-like symptoms, and there is currently no cure. Rett syndrome ...
Jan 20, 2023
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Scientists have created a mathematical model that can help explain why so many pregnancies and in vitro fertilization attempts fail.
Apr 13, 2020
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A new study in Neuron offers clues to why autism spectrum disorder (ASD) is more common in boys than in girls. National Institutes of Health scientists found that a single amino acid change in the NLGN4 gene, which has been ...
Apr 2, 2020
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An international team of researchers that pooled genetic samples from developmentally disabled patients from around the world has identified dozens of new mutations in a single gene that appears to be critical for brain development.
Mar 4, 2020
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Genes located in a large chromosomal aberration associated with autism interact with each other to modulate the variable symptoms of the disease, according to new research. A collaborative team led by Penn State researchers ...
Jun 29, 2018
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Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder.
Jan 30, 2017
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Psychiatric disorders can be difficult to diagnose because clinicians must rely upon interpreted clues, such as a patient's behaviors and feelings. For the first time, researchers at University of California, San Diego School ...
Jun 19, 2015
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Chromosomal abnormalities that result in birth defects and genetic disorders like Down syndrome remain a significant health burden in the United States and throughout the world, with some current prenatal screening procedures ...
May 6, 2014
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As so many genome studies do, this study published online in the journal Nature Genetics began with a single patient and his parents who were in search of a diagnosis.
Sep 29, 2013
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