Funded Work

There is definitive evidence that rare mutations, including spontaneous, or de novo, structural variations, contribute to autism spectrum disorders.

As the number of genetic anomalies associated with autism continues to escalate, demand grows to understand the mechanisms through which these genes affect brain function and behavior.

Genotyping, gene expression and genetic sequencing methods are generating large amounts of data that are potentially relevant to autism research.

Copy number variation (CNV) of the 16p11.2 region is associated with numerous developmental problems, including an increased risk for autism.

There is ample evidence of impaired sensory-motor acquisition in autism.

Inflammatory mechanisms have been implicated in autism.

Genetic factors have been known to play a role in the development of autism, but the contribution of common genetic variations — those that crop up in at least …

Autism is a developmental disorder that is most likely triggered during prenatal or early postnatal life.

Considerable evidence suggests that changes to brain activity in the cerebellum are involved in autism spectrum disorder.

More than 100 genes have been associated with autism, but one challenge is to understand how gene mutations alter signaling between neurons to cause deficient social interaction, communication …

The observation that some individuals with autism show clinical improvement in response to fever suggests that symptoms may be modulated by brain systems or enzymes that become altered …

The deletion of 27 genes in the 16p11.2 chromosomal region is associated with autism spectrum disorders, intellectual disability and obesity.

The cerebellum is a brain region that performs multisensory processing to guide movement and cognition.

During embryonic development, a ‘protomap’ of the cortex forms in the developing brain region that will become the cerebral cortex.

Fragile X syndrome is the most common heritable form of intellectual disability and a leading genetic cause of autism.

One of the core symptoms of autism spectrum disorders is impaired social interactions.

Normal behavior requires that brain regions interact with one another, and these interactions depend on the task; they change as attention shifts and as an action is planned …

Stephen Bent’s primary goal in this project was to determine whether a randomized, controlled trial of a treatment for children with autism could be conducted entirely over …

Pavel Osten and his colleagues at Cold Spring Harbor Laboratory in New York study mouse brain circuits mediating social and other innate behaviors, such as aggression and sexual …

Some overlap between 7q11.23 duplication syndrome and autism spectrum disorder has been reported in a large cohort of children.

Choline is an essential nutrient for all animals, including humans.

Environmental and genetic risk factors are both known to contribute to autism.

Autism is commonly seen in people with the genetic disorder tuberous sclerosis complex (TSC).

Most research into autism spectrum disorders has focused on genetic, behavioral and neurological aspects of the illness, but people with autism also show striking alterations in immune status.

In recent years, autism heritability has been the focus of intense research, and a number of autism susceptibility genes and loci have been identified.

Autism spectrum disorders are generally described as disorders of brain development that present early in life and whose phenomenology is a manifestation of the cumulative results of an …

Although a number of studies have documented abnormal expression of metabolites in blood and urine samples from individuals with autism, no clear metabolic biomarkers or unifying concepts regarding …

The Simons Simplex Collection (SSC) is a rigorously characterized set of data drawn from 2,700 families, designed to enrich the discovery of rare and de novo events …

The Simons Foundation has funded five university-based medical centers to identify and study a large number of individuals (~200 families within two years) with a recurrent genetic …

Autism spectrum disorders are believed to have a strong genetic component, but little is known about how the mutations alter brain function and lead to the disorder’s …

Douglas Wallace and his colleagues at the Children’s Hospital of Philadelphia tested the hypothesis that partial defects in mitochondrial bioenergetics are important factors in the etiology of …

Attention is a complex psychological construct that taps into multiple brain mechanisms, and it is thought that attentional abnormalities are common in children with autism spectrum disorders.

James Rand and his colleagues at the Oklahoma Medical Research Foundation studied the functions of a post-synaptic adhesion protein called neuroligin and the consequences of mutations affecting …

Multiple nucleotide variants in the coding sequence of the EFR3A gene are associated with autism, but the protein’s function is not well understood.

During the first few years of life, children rapidly incorporate signals from their surrounding enviroment into what will become their behavioral, social and language repertoires.

Four independent studies have uncovered different autism-associated variants in the gene contactin­associated protein-like 2 (CNTNAP2), making this gene the first to have multiple variants associated …

Mark Alter and his colleagues at the University of Pennsylvania study the relationship between brain cell maturation and the transcription of genes.

Loss-of-function mutations in the UBE3A gene give rise to Angelman syndrome, a neurodevelopmental disorder characterized by absence of speech, a happy demeanor, cognitive delay, motor deficits …

Two central challenges in autism research are defining specific neuronal abnormalities from genetic and environmental contributions and establishing preclinical models with human cells to test potential therapies.

Vikaas Sohal and his colleagues set out to test the hypothesis that excessive entry of calcium into neurons within the medial prefrontal cortex (mPFC) impairs social behavior and …

Rudolf Jaenisch and his colleagues sought to create a novel platform for studying autism spectrum disorders in human cells.

Poor reciprocal social interaction is a devastating behavioral anomaly and a defining feature in people with autism spectrum disorders.

Christian Hansel and his colleagues at the University of Chicago examined whether memory mechanisms in the cerebellar cortex are affected in autism.

Animal models offer opportunities to conduct biological studies in order to identify the mechanisms responsible for autism symptoms.

The genes implicated in autism thus far support the hypothesis that impaired neuronal connectivity may underlie autism pathogenesis.

Individuals with autism have deficits in social and emotional learning.

Modifications in inhibition mediated by gamma-aminobutyric acid type A receptors (GABAAR) are continually implicated in the etiology of autism.

Atypical control of attention is a core component of autism spectrum disorders.