Neuroscientists find promise in intervention to normalize biological functions in Fragile X mice
November 7, 2017
A team of neuroscientists have developed an intervention that normalizes multiple biological functions in mice afflicted with Fragile X Syndrome (FXS). Its breakthrough centers on protein synthesis, or the building of proteins, and actin dynamics, which help regulate cellular processes -- two fun...
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Newborns with trisomy 13 or 18 benefit from heart surgery, study finds
October 18, 2017
Heart surgery significantly decreases in-hospital mortality among infants with either of two genetic disorders that cause severe physical and intellectual disabilities, according to a new study by a researcher at the Stanford University School of Medicine and his colleagues at the University of A...
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Clinical trial investigates Alzheimer's disease drug in people with Down syndrome
May 31, 2017
A phase 2 clinical trial in young adults with Down syndrome of a drug being investigated for the treatment of Alzheimer's disease supports further investigation of its potential. Results of the four-week trial of scyllo-inositol, also known as ELND005, have been published in the .
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Second case of 'Down syndrome' in chimps
February 21, 2017
Japanese researchers have confirmed the second case known to science of a chimpanzee born with trisomy 22, a chromosomal defect similar to that of Down syndrome (or trisomy 21) in humans. The report on Kanako, a 24-year-old female chimp born into captivity, was led by Satoshi Hirata of Kyoto Univ...
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Scientists uncover possible therapeutic targets for rare autism spectrum disorder
January 31, 2017
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.
The study, led by scientists at Fred Hutchinson Cancer Research Cen...
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Impact of trisomy 21 on interferon signaling
September 8, 2016
The Global Down Syndrome Foundation has funded a landmark study led by scientist Dr. Joaquín Espinosa, Associate Director for Science at the Linda Crnic Institute for Down Syndrome. The results of the study were published online by , an open-access life sciences and biomedical research jou...
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Neuroscience study identifies new trigger mechanism for fragile X syndrome in mice
July 5, 2016
A study published today in the led by Yongjie Yang of Tufts University School of Medicine identifies an astroglial trigger mechanism as contributing to symptoms of fragile X syndrome in mice.
Fragile X syndrome (FXS) is a genetic disorder that arises from mutations in a gene on the X...
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New function of the chromosomal terminus, vital for human health, discovered
March 28, 2016
A research group discovered a new function of the chromosomal terminus, which may lead to the clarification of the mechanism for developing abnormal telomere structure such as multiple malformation and mental retardation.
DNA forms chromosome by combining with various proteins and oth...
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Genetic defect linked to visual impairment in dyslexics
May 27, 2015
A risk gene for dyslexia is associated with impairments in visual motion detection, according to a study published May 27 in The Journal of Neuroscience.
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