Funded Work

Autism spectrum disorder (ASD) results from alterations in the development of neural circuits in the brain and leads to a variety of clinical conditions, including insistence on sameness …

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.

This grant program supports community-driven organizations working to enhance the public’s understanding of science and to increase participation of underrepresented populations in STEM.

Science and music podcast where musicians talk to scientists about how their science connects to their most famous songs.

Friendly contest enabling students with vision loss to gain math skills while working alongside their peers.

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.

As we age, most individuals will experience normal declines in cognitive abilities, including memory.

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 …

The adaptive value of cognition manifests in decisions not only about how to act but also about when to act.

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

Community-focused program that provides extraordinary opportunities for under-recognized and underrepresented youth

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).

Pen-pal program that connects students in under-resourced schools with STEM professional mentors for a snail-mail letter exchange during science class.

National nonprofit organization established on the premise that exposure to the STEM community is critical to K-12 students pursuing STEM careers.

Inclusive theater company whose community reflects the vast diversity of the broader population

Over the past couple of decades, researchers have learned how to prepare two-dimensional materials — crystals that are only one atom or one molecular layer thick — and measure …

This project will focus on dynamical Chern–Simons gravity.