Fetal alcohol syndrome is the leading preventable cause of developmental disorders in developed countries. And fetal alcohol spectrum disorder (FASD), a range of alcohol-related birth defects that includes fetal alcohol syndrome, ...
Feb 20, 2013
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While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. ...
Jan 23, 2013
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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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Doctors have known for many years that patients with fragile X syndrome, the most common form of inherited intellectual disability, are often also diagnosed with autism. But little has been known about how the two diagnoses ...
Dec 12, 2012
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An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common form of non-syndromic ...
Nov 18, 2012
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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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A Yale-led team of researchers has identified the gene that, when mutated, causes a devastating early-onset disorder in babies known as "malignant migrating partial seizures of infants," or MMPSI. The study appears online ...
Oct 24, 2012
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Scientists studying a rare genetic disorder have identified a molecular pathway that may play a role in schizophrenia, according to new research in the October 10 issue of The Journal of Neuroscience. The findings may one ...
Oct 9, 2012
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A promising study out today in the prestigious Journal of Neuroscience showed that in a mouse model of Rett syndrome, researchers were able to reverse abnormalities in brain activity and improve neurological function by treating ...
Oct 3, 2012
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Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1.
Sep 30, 2012
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