Research: Funded Projects

GRIN disorders are rare genetic conditions that affect one of the seven GRIN genes that encode NMDA receptor subunits, which mediate excitatory synaptic transmission in the brain.

Language difficulties and intellectual disability affect approximately one-third of individuals with autism spectrum disorder (ASD) and predict quality of life for adults with ASD.

Determining genotype-phenotype relationships for gene variants that increase susceptibility to autism spectrum disorder (ASD) is critical for understanding underlying mechanisms and identifying therapeutic targets.

Food and Drug Administration (FDA) approval and clinical use of antisense oligonucleotide (ASO) therapies have demonstrated their potential for treating monogenic disorders.

Autism spectrum disorder (ASD) represents a group of hundreds of individually rare conditions which are in large measure due to mutations in genes produced in the brain.

While genetic studies have identified numerous risk variants and genes for autism spectrum disorder (ASD), therapeutic development requires both better understanding of the genes’ neurobiological roles and scalable …

PCDH19-clustering epilepsy (PCE) is a severe developmental and epileptic encephalopathy caused by loss-of-function variants in the PCDH19 gene on the X chromosome.

Alternative splicing generates transcript variants from over 90 percent of human genes, and its disruption causes or contributes to numerous diseases and disorders.

Solute carrier family 6 membrane 1 (SLC6A1) protein is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane and removes GABA from the synaptic cleft.

Early intervention for autism spectrum disorder (ASD) provides the best chance for minimizing challenges that interfere with quality of life.

The role of dysregulated chromatin biology in autism spectrum disorder (ASD) has become increasingly apparent as genome sequencing has implicated numerous epigenetic regulatory genes in ASD etiology.

The additive effects of thousands of common genetic variants explain most genetic risk for autism spectrum disorder (ASD) in the population.

Genome-wide analyses of large cohorts of people with autism spectrum disorder (ASD) have enabled the identification of numerous de novo and inherited rare DNA variants linked to …

Rett syndrome (RTT), which is caused by loss-of-function mutations in the gene MECP2, is the leading cause of complex autism spectrum disorders (ASD).

Several forms of syndromic autism have as a common feature changes in N-methyl-D-aspartate (NMDA) receptors.

The potential impact of maternal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on the developing fetal brain is not yet understood.

Over the past few decades, there have been significant gains made in modern communication technology, yet there exists a huge gap in the application of these technologies to …

Atypical brain activity and connectivity are well demonstrated in older children and adults with autism spectrum disorder (ASD), but it is unknown when these changes first appear.

Research on the functions of sleep has produced a wealth of evidence that sleep rhythms play an evolutionarily conserved role in the consolidation of multiple forms of memory.

Mutations in genes involved in synaptic function have been identified as risk factors for autism spectrum disorder (ASD), yet how risk-alleles encoding ubiquitous synaptic proteins affect the …

Autism spectrum disorder (ASD) has a complex genetic landscape with many highly penetrant risk genes which individually affect a small proportion of individuals with a spectrum of clinical …

The massive outbreak of the newly emerged severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that causes coronavirus disease 2019 (COVID-19) has spread rapidly around the …

The severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has infected hundreds of million individuals globally.

Autism spectrum disorder (ASD) affects one in 59 children in the United States.

PPP2R5D is a high-confidence (category 1) autism spectrum disorder (ASD) risk gene and the 13th most significantly neurodevelopmental disorder-associated gene in the genome.

Loss-of-function mutations in repressive chromatin modifying enzymes such as euchromatic histone methyltransferase 1 (EHMT1) are frequent causes of neurodevelopmental conditions, including autism spectrum disorder (ASD).

Post-transcriptional regulation of mRNAs plays a major role in determining the proteome and thus cell fate.

Autism spectrum disorder (ASD) is a set of conditions arising during neural development.

There are currently no available evaluation tools specifically designed for online, rapid and repeated evaluation of multiple neurobehavioral domains important to people with autism spectrum disorder (ASD) and …

The objective of this one-year Director Award is to continue pathogenic copy number variation (CNV) discovery for exomes generated as part of the SPARK Consortium (the initial …

From birth, infants and their caregivers engage in mutually adaptive and mutually reinforcing interactions that serve as the platform and catalyst for development of the social brain and …

Autism spectrum disorder (ASD) is a complex, heritable and highly heterogeneous neurodevelopmental condition characterized by challenges in the core areas of reciprocal social communication as well as the …

Atypical sensory perception is widely observed in individuals with autism spectrum disorder (ASD).

The ability to suppress inappropriate behaviors is a hallmark of executive control and impairments of this ability contribute to multiple defining symptoms of autism spectrum disorder (ASD).

Brain imaging research strongly suggests that autism spectrum disorder (ASD) involves altered function in multiple neural networks.

Tuberous sclerosis complex (TSC) is a genetic condition caused by inactivating mutations in TSC1 or TSC2 genes, with variable penetrance and severity.

Neurodevelopmental conditions, such as autism spectrum disorder (ASD) and intellectual disability, affect more than three percent of children worldwide, yet in the majority of cases, therapeutic options and …

TRIO is among the genes most frequently impacted by damaging de novo mutations and rare variants in individuals with autism spectrum disorder (ASD), severe intellectual disability (ID), schizophrenia …

Since the fall of 2008, Abba Krieger and colleagues (most prominently Andreas Buja) at the Wharton School of the University of Pennsylvania have served as statistical consultants to …

The integrated stress response (ISR) has recently emerged as a main causative driver of normal aging as well as a wide spectrum of cognitive disorders of vastly different …

Despite the increase in the prevalence of autism spectrum disorder (ASD), currently, there are no treatments that can effectively reverse ASD core features.

Accumulating evidence indicates that autism spectrum disorder (ASD) susceptibility mutations are frequently found within genes encoding chromatin regulators that control the expression of genes across the genome.

Among the most challenging aspects of autism is a variety of aural speech processing issues that deeply impact individuals’ language abilities.

Seizures are an extreme outcome of excitatory-inhibitory imbalance and are the most common neurological complication in autism spectrum disorder (ASD).

Autism spectrum disorder (ASD) is a complex brain condition with a developmental etiology rooted in corticogenesis.

Atypical sensory experience is a core feature of autism spectrum disorder (ASD) and is strongly determinant of other ASD traits.

In order for the brain to carry out its complex functions, gene expression must be precisely controlled at the levels of transcription and translation.

Social attachments form the basis of human relationships at every level of social organization, from relationships between parents and children, romantic partners, to peers and group affiliation.