Tag: genetics
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newsVariants in contactin-associated protein-like 2 or CNTNAP2 — a gene thought to be involved in nerve cell communication — are associated with language deficits in families affected by specific language impairment (SLI), a developmental disorder that affects roughly seven percent of kindergarten-age children, according to a study published in late November...→
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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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spotlightIn the fall of 1980, when he left his hometown of St. Louis, Missouri, for undergraduate studies at Cornell University in upstate New York, John Constantino was determined to pursue one of two careers: a doctor or a school teacher.
“If I didn’t make it in med school, I figured being a...→
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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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newsIn the past few years, scientists have uncovered a handful of genes that increase the risk of autism. In an interesting twist, others are instead looking for genetic factors that protect from autism.
“Exactly like there are gene variants that will confer vulnerability toward the disease, its very easy to see that...→
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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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workshop reportWorkshop organizers: Nancy Kanwisher, Cathy Lord New York; September 7-8, 2008
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Goal:
To characterize the cognitive phenotype, the set of cognitive abilities that are impaired or spared in autism spectrum disorders.
Summary:
Autism is a developmental disorder characterized by impaired social interaction and communication, and restricted and repetitive behavior. Because there are no biological markers for...→
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newsThe gene that causes Rett syndrome, a rare disorder on the autism spectrum that affects only females, may also play a key role in aggressive behavior and overeating in mice, according to a study published today in Neuron 1.
In 1999, Huda Zoghbi and her team first linked mutations in MeCP2...→
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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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