Research: Funded Projects

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.

Although the clinical manifestations of autism spectrum disorders are highly variable and their underlying causes are still largely unknown, accumulating evidence implicates variations in genes encoding synaptic proteins …

In most cases of autism, the cause is unknown.

Copy-number variations (CNVs) are losses or gains of genetic material, such as a deletion or duplication of a chromosomal region.

The development of brain cell connections, or synapses, in humans occurs during the third trimester of prenatal life and throughout the first few years of life.

The development of brain cell connections, or synapses, occurs during the third trimester of gestation and throughout the first few years of life.

This was a one-year project designed to obtain initial electrophysiological data from individuals with autism undergoing neurosurgery.

CNTNAP2 is a gene that encodes a member of the neurexin family of proteins and has been implicated in autism spectrum disorders.

Perturbations in the fundamental brain processes that underlie eye movement may be linked to the psychological and neural abnormalities seen in individuals with autism spectrum disorders.

Neuroligins (NLGNs) are evolutionarily conserved cell adhesion proteins that mediate the formation of synapses between neurons.

A pervasive aspect of autism is hypersensitivity to sensory stimuli.

Ruth O’Hara and her colleagues at Stanford University investigated the types of sleep disorders that are most prevalent in autism.

Copy number variants (CNVs) are segments of DNA that vary in copy number between different individuals.

Autism is a syndrome with many causes.

Copy number variations (CNVs), or altered numbers of certain stretches of DNA, have been implicated as a genetic cause of autism.

One copy of 22q11.2, a segment of chromosome 22 that includes several genes, is missing in 1 of every 4,000 individuals.

New protein synthesis is essential for long-lasting memory, and regulation of neuronal translation by the ERK and mTOR signaling pathways plays a crucial role in this process.

Functional brain imaging studies of individuals with autism suggest that brain activity in response to sensory stimuli is delayed, multisensory brain responses are integrated over a longer time …

Autism spectrum disorders are a clinically heterogeneous group of disorders that share common features.

About 15 to 30 percent of children with autism are at risk of epilepsy, which is roughly ten times higher than the general population.

Betty Diamond and her colleagues at The Feinstein Institute for Medical Research in Long Island, New York, demonstrated the presence of antibodies that bind to brain tissue in …

Mutations in certain genes that encode proteins at the synapse, the junctions between neurons, are known to be associated with autism spectrum disorders.

There is currently no cure for any autism spectrum disorder, and the current pharmacological treatments have had limited success.

The most common inherited form of autism is fragile X syndrome, which is caused by genetic inactivation of the fragile X mental retardation protein (FMRP).

At least 100 different genes have been implicated in autism spectrum disorders.

For individuals with autism, the process of socialization is derailed at a very early age.

Christopher Walsh and his colleagues at Boston Children’s Hospital have been studying the genetics of autism by analyzing inherited recessive mutations in consanguineous families — those in which …

Autism impairs the development of social behavior, emotions and communication.

Children with autism and related disorders often have problems with language acquisition.

Luis Parada and his colleagues at the University of Texas Southwestern Medical Center in Dallas have been studying the brain morphology and behavior of mice with mutations that …

Jesse Snedeker and her colleagues at Harvard University conducted a series of studies on language comprehension in autism.

Charles Nelson and his colleagues at Boston Children’s Hospital/Harvard Medical School investigated early brain development in infants at high familial risk for autism.

Large-scale population studies are valuable for elucidating gene-environment interactions that contribute to the risk of autism.

The underlying causes of autism spectrum disorders are poorly understood, but one appealing hypothesis is that an imbalance of excitation and inhibition in the brain’s cortex underlies …

A major goal of autism research is to identify the underlying genetic variants that contribute to risk of the disorder.

A number of the genes that have been implicated in autism have counterparts in model organisms, such as mice and fruit flies.

Four times as many males as females are afflicted with autism.