Research: Funded Projects

Flora Vaccarino and her colleagues at Yale University have developed and characterized several lines of human induced pluripotent stem (iPS) cells from the skin cells of two individuals …

Many symptoms of autism, such as social impairments and repetitive behaviors, are accompanied by abnormal brain activity in the forebrain region.

People with autism spectrum disorders often lack self-awareness, making it difficult for them to interact and empathize with others.

A major challenge facing autism research is the lack of objective measures to characterize the disorder’s various phenotypes.

Pinpointing the specific molecular defects that cause autism is a key approach to developing appropriate treatments for the disorder.

Common variation in the human genome accounts for more than half of autism diagnoses.

The unusually high incidence of cranial and facial anomalies among people with autism may provide insight into the underlying biology of the disorder.

Recent studies have implicated a growing number of genes in the development of autism, but the candidates form a motley collection.

Autism is a spectrum of disorders that result in aberrant development and function of the nervous system.

Studies focusing on specific genes have made limited progress in unraveling the complex genetics of autism spectrum disorders.

Individuals with autism find it difficult to regulate their emotions and interact with others.

Genetics plays a major role in autism, but the relationships are complex and not well understood.

Based on a genome-wide association study, Mark Daly of Massachusetts General Hospital and his colleagues reported in 2008 that genetic variation in the 16p11.2 chromosomal region …

Michael Ullman and his colleagues at Georgetown University in Washington, D.C., are examining language learning and processing in autism, with a focus on grammar acquisition.

Many of the mutations that are known to be associated with autism disable protein complexes that support the development and function of synapses — the communication junctions between neurons.

Attention deficit hyperactivity disorder (ADHD) and autism are both neurodevelopmental disorders that emerge early in life and persist.

In autism, tracing the connections between the underlying genes, altered brain function and behavioral symptoms is difficult because the disorder is caused by multiple factors in most people.

Advanced maternal and paternal age have been reported as risk factors for autism spectrum disorders.

Early and accurate diagnosis of autism is challenging because of the paucity of biomarkers for the disorder.

Abba Krieger and Andreas Buja at the University of Pennsylvania (in collaboration with Eric Fombonne, Edwin Cook and Alex Lash) analyzed the relationship between body temperature and cognitive …

16p11.2 are the most common chromosomal change seen in individuals with autism.

Unusually high levels of the signaling peptide BDNF, or brain-derived neurotrophic factor, have been detected in blood samples from children with autism.

A well-characterized microdeletion in the 22q11.2 chromosomal region is known to be associated with schizophrenia.

Autism spectrum disorders are heritable, and chromosomal defects are thought to play a role in their development.

The relationship between genetics and autism is not always straightforward, but some autism spectrum disorders are known to be caused by defects in a single gene.

Small variations in the DNA sequence of a gene, called polymorphisms, are known to have an impact on normal and disease phenotypes.

Mirror neurons are nerve cells that are activated when an individual observes an action being performed by someone else.

Appropriate social behavior requires a fine-tuned ability to perceive other people’s actions.

Current genetic evidence links autism with defects in signaling between brain cells, or neurons, particularly at specialized regions of the neurons known as synapses.

Individuals with autism often experience difficulties with day-to-day interaction and communication, such as interpreting body language, reading facial expressions and understanding others’ thoughts and desires.

Multiple lines of converging evidence document brain enlargement in autism.

For years, autism has been noted in individuals with tuberous sclerosis, leading researchers to speculate that the two disorders may develop after troubles in the same biological pathway.

Analyzing genetics using the tissues of people with autism can provide deeper insight into the disorder than performing genetic techniques on DNA samples alone.

Many children with autism have unusually high numbers of synapses, or connections between neurons, particularly in the cortex, which may result from overgrowth and a disruption of neuronal …

Most of the genes known to be associated with autism seem to regulate how neurons communicate with each other at structures called synapses.

Roughly one percent of cases of autism are associated with deletions within a single region of chromosome 16, which contains nearly 30 genes.

The neurobiology behind the classic signs of autism — repetitive behaviors, impaired social interactions and language deficits — is largely unknown.

The study of autism is best approached using a variety of disciplines, a practice greatly facilitated by the large amount of data shared among collaborators in the Simons …

To explore the genetic contribution in autism spectrum disorders, Michael Wigler and his colleagues at Cold Spring Harbor Laboratory in New York studied genomic variation in the Simons …

Autism arises in early childhood, during a period of intense learning when many of the brain’s connections are modified by experience.

The heritable nature of autism has been borne out by research showing that identical twins and siblings of children with autism are at a greater risk of the …

22q11 deletion syndrome is among a growing number of genomic disorders that are associated with autism, and is one of the most common recurrent copy number variants (CNVs …

The overarching goal of our work is to delineate the clinical and genetic heterogeneity within the Autism Spectrum Disorder diagnosis so that prognoses, treatments and preventive strategies can …

Like autism, Rett syndrome arises in young children with a progressive loss of skills such as speech and control of movements, and is frequently accompanied by mental retardation …

Autism arises from mutations in the genome, but several studies have shown that many of these mutations occur de novo — that is, they are non-inherited mutations introduced …

Genetic studies have linked several new genes to increased risk of autism.

Using recent technological advances in genetics to rapidly acquire data, researchers have linked several genes and chromosomal aberrations to autism.

Autism arises, at least in part, as a result of poor signaling between neurons, which disrupts the behavioral pathways necessary for social interactions, language development and motor control.