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2012

To make big data available to all, reach for the clouds
As the amount of genomics and other data rapidly grows, researchers are turning to cloud computing; commercial services for remote data storage and processing that allow even those with little infrastructure to handle big data.
Funding fears prevent researchers from sharing their mice
Despite funders’ requirements to share mouse models after publication, many researchers hoard the animals for the good of their labs — and that could have an adverse effect on the field as a whole.
Studies shore up proposed guidelines for autism diagnosis
Two new studies support the idea that the core symptoms of autism cluster into two categories — social communication, and repetitive and stereotyped behavior — rather than the traditional triad of deficits in communication, problems with social reciprocity, and rigid thoughts and behaviors.
Movement during brain scans may lead to spurious patterns
Head movements taint the results of many brain imaging studies, particularly those analyzing children or individuals with developmental disorders, according to two sobering new studies.
Effect of paternal age seen in girls with autism
Children, especially girls, with autism who have older fathers are more likely than those with younger fathers to be the only child with the disorder in their family, according to a new study published 16 December in Autism.
Mapping whole-brain networks may untangle autism's roots
Analyzing the organization of whole-brain structural networks could reveal differences in the way brains of children with autism and other neurodevelopmental disorders are wired.
Scanning during sleep effective across autism spectrum
Scanning children’s brains while they sleep is a viable alternative to sedation for infants and toddlers across the entire autism spectrum, according to a study published in the January issue of the Archives of General Psychiatry.
Sequencing identifies source of mitochondrial disorders
Researchers have identified the genetic root of severe mitochondrial disorders in infants whose cases couldn’t be solved by standard genetic testing, according to research published last week in Science Translational Medicine.
Diverse data networks point to driving force in diseases
A mathematical approach called 'NEW biology,' or network-enabled wisdom biology, aims to solve one of the biggest problems in disease research: isolating the key factors that drive diseases from a glut of information.
Brain response to gaze predicts autism in baby sibs
A longitudinal study of infant siblings of children with autism is the first to identify a particular brain pattern that is linked to later diagnosis of autism.
Brain imaging study links structure and function in face area
Structural connections in the brain’s face-processing region can be used to predict brain activity in response to faces, according to research published this month in Nature Neuroscience.
SHANK2 study bolsters 'multi-hit' gene model of autism
By screening the genomes of hundreds of people with autism and analyzing the effects of newly identified mutations in cultured neurons, researchers have clarified the disorder’s link to the SHANK2 gene.
Human neuron model tests function of autism-linked genes
Simulating neuronal development in culture with cells derived from human brain tissue offers a new way to study the function of autism-linked genes, according to research published in the February issue of Molecular Psychiatry.
Infants who develop autism show distinct brain connectivity
The development of white matter tracts, the nerve bundles that join one brain region to another, is different in babies who go on to develop autism compared with those who do not, according to a study published 17 February in the American Journal of Psychiatry.
Autism in translation garners more research interest
Foreign-language translations of autism screening and diagnostic instruments are proliferating, but there is little research evaluating how well they work. Validation is necessary not only to ensure that children who have autism get the services they need, but also to accurately measure the disorder’s prevalence in different countries, researchers say.
Major errors in genome can be harmless
More than 250 genes in the human genome — about one percent of our genes — can be eliminated without serious health effects, according to research published last week in Science.
Swedish study dissects autism risk in immigrants
Immigrating to another country during pregnancy appears to boost the risk of having a child who has low-functioning autism, according to a comprehensive, population-based study in Sweden. The research was published online 23 February in the British Journal of Psychiatry.
Large eye-tracking study highlights diversity of autism
Children with autism who have different verbal and intellectual abilities seem to glean useful social information from different parts of the face, according to the largest-ever eye-tracking study of the disorder. The findings are published in the March issue of the Journal of the American Academy of Child and Adolescent Psychiatry.
Clinical trials for autism treatments go online
A new clinical trial, conducted entirely online, could provide a model for how to quickly and efficiently test some potential treatments for autism.
More sensitive prenatal tests detect autism-linked variants
Prenatal genetic tests that can detect copy number variations, including those linked to autism, could raise tough questions for doctors and parents.
Imaging study reveals insula disruption in Williams syndrome
A detailed brain imaging study of people with Williams syndrome, a developmental disorder characterized by a highly sociable personality, has found a series of structural, functional and connectivity deficits that converge on a part of the brain called the insula. The findings were published online 12 March in Proceedings of the National Academy of Sciences.
Bone marrow transplant alleviates Rett symptoms in mice
A bone marrow transplant from healthy mice to those lacking the MeCP2 protein, which causes Rett syndrome, extends lifespan and alleviates symptoms of the disorder, according to research published online 18 March in Nature.
Scientists link new deficits to FOXP2 mutations in mice
Mice with mutations in a gene tied to language impairment and to autism have trouble learning to associate sounds with motor patterns, says a study published last week in PLoS ONE.
Researchers seek 'active ingredients' of early intervention
Early intensive intervention is the only therapy that has been shown to be effective in young children with autism, according to a 2011 review of autism treatments commissioned by the U.S. Agency for Healthcare Research and Quality. But researchers are just beginning to tease out what they refer to as its ‘active ingredients:’ why the treatment works, which elements are essential and why it fails to help some children.
Brain imaging reveals simple organization for neural wires
Rather than a tangled bowl of spaghetti, the neural wiring in the brain is arranged in an orderly fashion, like a woven piece of cloth, according to research published today in the journal Science.
Analysis of new diagnostic criteria for autism sparks debate
A new analysis of proposed changes to the diagnostic criteria for autism suggests that the revision could exclude a substantial number of people with high-functioning autism. But critics say the study is fundamentally flawed.
Hundreds of genes involved in autism, sequencing studies say
The largest set of exome sequencing studies of children with autism and their families to date has identified a handful of genes that may increase risk of the disorder, according to research published in Nature.
Noncoding gene linked to autism
Researchers have identified a noncoding RNA, a genetic message that is not translated into a protein, that may be involved in autism. The discovery, published 4 April in Science Translational Medicine, came from examining a region on chromosome 5 that has been previously linked to the disorder.
Study finds grammar tics in children with autism
Children with autism don’t follow certain grammatical rules, according to one of the few studies of the disorder from the field of linguistics.
Massive effort planned to map visual brain in mice
A ten-year initiative announced last month by the Allen Institute for Brain Science aims to catalog the development, structure and function of neural circuits in the brain at an unprecedented level of detail.
Giant imaging study identifies genes that govern brain size
The largest brain imaging study ever performed has identified candidate genes that influence brain size and general intelligence, according to research published 15 April in Nature Genetics.
Gene expression altered in postmortem autism brains
Postmortem brain tissue from people with autism shows differences in the expression of genes involved in a number of molecular pathways, including those that control cortical patterning, programmed cell death and differentiation, according to research published last month in PLoS Genetics.
Large sequencing study ties autism genes to fragile X
Children with autism carry twice as many new and damaging genetic mutations as typically developing children, according to a new study published in Neuron. The researchers also identified intriguing genetic links between autism and fragile X syndrome.
Studies highlight promise of fragile X treatment
A promising approach to treating fragile X syndrome could benefit people even after the critical window of early brain development, and alleviate core symptoms of autism, according to two studies published this month.
Chromosome exchanges reveal new autism-related genes
Large-scale swapping of genetic material between chromosomes may play an important role in autism, according to a study published 27 April in Cell.
Defects in carnitine metabolism may underlie autism
A genetic defect in the synthesis of carnitine, a molecule that is essential for proper mitochondrial function, might slightly increase risk for autism in some children, according to research published 8 May in the Proceedings of the National Academy of Sciences.
Fish study links chromosome 16 genes to head size
By creating genetically engineered fish, two independent groups have identified genes in an autism hotspot on chromosome 16 that influence head size and brain development. 
European consortium strives to spur autism drug development
A $38.7 million project in the European Union — the largest single grant for autism research in the world — aims to bring together academic labs and pharmaceutical companies to speed the move from basic to clinical research.