Tag: copy number varation
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newsThe first postmortem study to examine the effects of chromosome 15 duplication on gene expression shows completely divergent results, suggesting that the effect of genetic duplications is far from predictable, according to a study published last month in the Journal of Medical Genetics 1.
Between 1 to 3 percent of people...→
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newsDeletions or duplications of a specific segment of chromosome 16 — which has previously been fingered as a ‘hotspot’ for autism susceptibility — may be present in a surprising number of people who don't have autism, according to researchers presenting preliminary data today at the annual meeting of the Child Neurology...→
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commentaryIn the past few months, researchers have published dozens of reports linking single-nucleotide polymorphisms (SNPs) with susceptibility to a range of common diseases.
For neuropsychiatric diseases, however, the number of such variants robustly associated with greater risk has been quite small, including limited success reported for autism spectrum disorders.
Fortunately, there has been...→
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newsPeople with schizophrenia have roughly the same rate of copy number variations as do healthy controls, according to a study in the Chinese Han population published in Molecular Psychiatry 1.
The results directly contradict those from a high-profile study earlier this year showing that copy number variations — deletions or duplications...→
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newsA specific gene in the chromosomal region 22q11 is important for normal brain connectivity and synapse formation, and its absence may lead to schizophrenia, researchers are reporting today in Nature Neuroscience 1. The same team first linked a deletion in the chromosomal region to the disorder 13 years ago.
This approach...→
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newsIn the past year, researchers have debuted a growing number of mouse models that they say exhibit the subtle behaviors of autism. In the midst of controversy over whether these mouse models represent autism, one team of scientists is looking for quirks in the animals’ neural circuits.
In October 2007, a high-profile...→
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newsLate in June, an announcement appeared on the website of GeneDx, a genetic testing company based in Gaithersburg, Maryland. It was highlighted in red with a single word: “new”.
“As of June 20, 2008 GeneDx offers Tiered Testing Panels for Individuals with Autism [and] Autism Spectrum Disorders,” it proclaimed.
An accompanying information sheet...→
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newsAutism may interfere with the brain’s ability to adapt to experience early in development, according to a study published today in Science that uncovers several new risk genes for the disorder1.
Because the brain relies on experiences, such as seeing or hearing, to fine-tune its connections early in life, any loss...→
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newsRare, spontaneous mutations could account for at least 10 percent of cases of schizophrenia, according a study published online last week1.
These mutations are deletions or duplications of DNA segments, dubbed copy number variations (CNVs).
Although submicroscopic in stature, CNVs have for the past two years been implicated in neurological disorders such...→
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newsFor much of the twentieth century, autism was considered childhood schizophrenia.
Shared problems with language and social interaction lumped them together. Doctors thought as the children grew older, they simply became more psychotic and delusional.
But, in 1943, Leo Kanner, a psychiatrist at Johns Hopkins University, suggested that children who have an “innate...→
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