Research: Funded Projects

Chromosomal copy number variations (CNVs) are common genetic abnormalities in autism spectrum disorder (ASD) and have been identified in approximately 10 percent of individuals with ASD.

Autism spectrum disorders (ASDs) comprise a constellation of symptoms, including impaired social interactions, communication and language deficits, and repetitive behaviors that manifest during early development.

Each year, more candidate compounds for the treatment of autism spectrum disorder (ASD) are being explored.

Sensitive, standardized, reliable measures of outcomes for clinical trials attempting to change behavior and function in children and adults with autism spectrum disorder (ASD) have been extremely limited …

In a previously funded SFARI study of 100 children with autism spectrum disorder (ASD), Ruth O’Hara and her colleagues found that sleep-disordered breathing (SDB) — such as …

Compelling evidence suggests that the 15q11-13 chromosomal region is likely to play a role in autism pathogenesis.

Williams syndrome (WS) is a neurodevelopmental disorder caused by deletions in the 7q11.23 chromosomal region.

How children recognize emotion from facial expressions, understand others’ perspectives, reason through social problems and regulate emotion is critical to their social success.

Autism, intellectual disability, developmental delay and related phenotypes affect more than 1 percent of children worldwide.

A proportion of risk for autism spectrum disorder (ASD) resides in rare genetic coding variants, which include single nucleotide variation, indels and structural variation, including copy number variants …

Autism spectrum disorder (ASD) affects at least 1 child in 68, and imposes a huge psychological and economic burden on affected individuals, their families and society.

Exome sequencing and copy number variant (CNV) analyses have contributed significantly to our understanding of the genetic etiology of autism spectrum disorder (ASD).

One of the most important objectives of autism spectrum disorder (ASD) interventions is to improve spoken communicative language skills.

Between 55 and 70 percent of children with autism spectrum disorders (ASDs) experience sensory over-responsivity (SOR), a severe and negative response to, or avoidance of, sensory stimuli …

Recent studies have provided compelling evidence that loss-of-function mutations in the CHD8 gene, which encodes an ATP-dependent chromatin-remodeling factor, are associated with an autism …

Autism spectrum disorders (ASD) are strongly sex-biased.

Autism spectrum disorders (ASDs) and related neuropsychiatric diseases, such as schizophrenia, are thought to involve alterations in neural circuitry in different brain regions, including the hippocampus, an area …

Very early interventions for autism spectrum disorders (ASDs) have the potential to improve long-term outcomes by targeting emotion regulation, social learning and social communication.

Research assessing the effectiveness of treatments in autism spectrum disorder (ASD) is limited by a lack of scalable and quantifiable autism-specific treatment response measures.

Many developmental disorders, including autism spectrum disorder (ASD), exhibit language impairments.

Smith-Magenis syndrome (SMS) is an autism-like neurodevelopmental disorder that causes, among other things, motor and learning disability and obesity.

A common feature of mouse models of autism spectrum disorders (ASDs) is an imbalance between excitation and inhibition within circuits of the central nervous system.

Individuals with autism spectrum disorder (ASD) have difficulties engaging in social interactions, including problems making eye contact with other people and sharing attention with others about objects in …

Copy number variants (CNVs) are the regions of the human genome that represent significant genetic risk factors for autism and other neurodevelopmental disorders.

Medications for treating the core symptoms of autism spectrum disorder (ASD) continue to be an unmet need.

Eye-tracking is a well-established research tool that can be used to study social cognition in individuals with autism spectrum disorder (ASD).

Despite the existence of a core set of features and affected biological networks, autism spectrum disorders (ASDs) are genetically heterogeneous.

Pupillometry, the measurement of pupil diameter, provides a glimpse into the internal mechanisms that guide attention and focused states.

Half a century ago, the introduction of karyotyping transformed human genetics and clinical diagnostics by opening access to gross changes in chromosomes, revealing an entire class of previously …

Human genetic studies have identified hundreds of genes with variants associated with autism.

A major challenge that researchers face in attempting to understand the molecular mechanisms underlying autism spectrum disorders (ASD) is that thousands of gene mutations have been linked to …

Many of the social and cognitive behavioral impairments associated with autism spectrum disorders (ASDs) are likely caused by changes in early brain development that alter the formation of …

Microglia — the brain’s resident immune cells — have many roles in normal brain development that neuroscience is just beginning to ascertain.

The hallmarks of autism spectrum disorder (ASD) are deficits in social communication and interaction, but a coherent underlying etiological mechanism for ASD is yet unknown.

The core social impairments that characterize autism spectrum disorder (ASD) remain poorly understood.

Atypical sensory processing is a proposed etiological factor underlying the development of behavioral deficits in autism spectrum disorder (ASD).

One of the most critical challenges in the identification of new medications to treat autism spectrum disorders (ASDs) is our limited understanding of the biological mechanisms underlying these …

The brain is an exquisitely complex network, and the precise development of neuronal connections into the appropriate circuitry is crucial in determining brain function.

Although 16p11.2 copy number variants (CNVs) make a significant contribution to the risk of autism spectrum disorder (ASD) and are becoming well described at the clinical level …

Autism spectrum disorders (ASDs) are genetically heterogeneous, but whether they share a common neural-circuit-processing defect is unclear.

The Interactive Autism Network (IAN) is an online setting bringing together individuals affected by autism spectrum disorder (ASD) and researchers studying ASD.

Autism can be thought of as a dysfunction in the interaction between cortical areas, particularly the top-down interactions that enable us to select features of our environment …

Recent advances in sequencing analysis of individuals with autism have revealed a large number of genetic variations that are associated with autism.

Mutations in the autism susceptibility candidate 2 gene (AUTS2) have long been linked with autism spectrum disorder (ASD) and several neurodevelopmental abnormalities.

Animal models play pivotal roles in understanding the relationship between behaviors and underlying brain circuits.

A core feature of autism is the expression of repetitive and ritualized behaviors characterized by profound invariability and inflexibility.

Dysregulation of the normal immune response appears to underlie the development of a wide variety of neurodegenerative diseases, including autism spectrum disorders (ASDs).

All cells, including neurons, possess mechanisms to coordinate protein synthesis with protein degradation to maintain amino acid and protein levels within the appropriate range.