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Featured

Dissecting mechanisms of hyperarousal in autism and related disorders using the Simons Sleep Project

Funded Work

Gravity Follows Newton’s and Einstein’s Rules, Even at Cosmic Scales

April 15, 2026

Scientists Capture Superconductivity’s ‘Dancing Pairs’ for First Time, Filling Gap in Decades-Old Theory

April 15, 2026

How SURFiN Fellowships Jump-Started These 3 Neuroscience Students’ STEM Careers

March 18, 2026

Results

  1. Developing an ERK biomarker for autism

    Funded Work
    The activation of extracellular signal-related kinase (ERK), a key enzyme in cellular signaling, may prove to be a useful biomarker in autism, as an aid in early …
  2. Cryptic chromosomal aberrations and autism

    Funded Work
    Chromosomal microarray (CMA) analysis to detect copy number variations (CNVs) —duplication or deletion of chromosomal regions — is the recommended first-tier diagnostic screen for autism, and studies of …
  3. Characterizing the regulatory pathways and regulation of AUTS2

    Funded Work
    Autism has strong genetic origins, but neither common nor rare gene variants explain the majority of cases.
  4. Characterizing autism-related intellectual impairment and its genetic mechanisms

    Funded Work
    Although intellectual impairment is not one of the diagnostic criteria for autism spectrum disorders, half or more of all people with autism have an intellectual disability.
  5. Genetic model to study A2BP1 and its target, PAC1

    Funded Work
    Autism encompasses a range of cognitive and behavioral characteristics, and studies suggest that certain genetic abnormalities are common in individuals with autism.
  6. 5-Hydroxymethylcytosine-mediated gene regulation in autism

    Funded Work
    Autism spectrum disorders share common features of impaired social relationships, impaired language and communication, repetitive behaviors and a limited range of interests.
  7. Synaptic pathophysiology of 16p11.2 model mice

    Funded Work
    Many single-gene disorders linked to autism affect proteins that modulate the translation of messenger RNA into proteins that function at synapses, the junctions between neurons.
  8. Social interaction and reward in autism: possible role for ventral tegmental area

    Funded Work
    A hallmark of autism spectrum disorders is impaired social interactions.
  9. Multimodal developmental neurogenetics of adolescents in the Simons Simplex Collection

    Funded Work
    The term ‘autism spectrum disorder’ exemplifies the tremendous heterogeneity in this neurodevelopmental disorder at both the clinical and underlying genetic levels.
  10. Role of CASPR2 (CNTNAP2) in brain circuits

    Funded Work
    Contactin-associated protein-like 2 (CASPR2, encoded by the gene CNTNAP2) is a cell adhesion molecule that is essential for proper neuronal function.
  11. Functional analysis of EPHB2 mutations in autism

    Funded Work
    Abnormal brain wiring during early development may be a causal factor in autism spectrum disorders.
  12. Motor cortex plasticity in MeCP2 duplication syndrome

    Funded Work
    Stelios Smirnakis and his team at Baylor College of Medicine in Houston, Texas, worked to understand how genetic defects in autism lead to malfunction at the circuit level.
  13. Understanding the basic neurobiology of Pitt-Hopkins syndrome

    Funded Work
    J.
  14. Fragile X syndrome target analysis and its contribution to autism

    Funded Work
    Autism spectrum disorders and fragile X syndrome have a remarkable clinical association and share biological ties to the molecular pathways critical for communication between brain cells, at synaptic …
  15. Comprehensive phenotypic characterization of 17q12 deletion syndrome

    Funded Work
    Genetic factors are thought to play a major role in the occurrence of autism.
  16. Understanding copy number variants associated with autism

    Funded Work
    Some copy number variants associated with autism lead to measurable anatomical defects or exhibit ‘mirrored phenotypes,’ meaning that deletions and duplications of the chromosomal region have opposite anatomical …
  17. Probing synaptic receptor composition in mouse models of autism

    Funded Work
    Growing evidence indicates that neuronal circuit dysfunction may underlie autism behaviors, although the nature of this impairment and how it leads to autism is still unclear.
  18. Trial of carnitine therapy in TMLHE deficiency and non-dysmorphic autism

    Funded Work
    A newly discovered genetic condition called TMLHE deficiency results in the loss of the ability to make carnitine in the body.
  19. Prosodic and pragmatic processes in highly verbal children with autism

    Funded Work
    Children with autism spectrum disorders vary considerably in their language abilities, but even verbally proficient children have difficulty with two aspects of language: pragmatic inference, which uses context …
  20. RNA dysregulation in autism

    Funded Work
    Growing evidence links errors in genetic control to autism.
  21. Neural mechanisms underlying autism behaviors in SCN1A mutant mice

    Funded Work
    Electrical signals in neurons rely on the proper function of voltage‐gated sodium channels.
  22. Local functional connectivity in the brains of people with autism

    Funded Work
    Functional connectivity in the brain refers to the synchronization of neuronal circuits to transfer information within and between the circuits.
  23. Children with 7q11.23 duplication syndrome: shared characteristics with autism

    Funded Work
    Autism can be caused by a number of different genetic alterations, some of which result in known syndromes.
  24. Role of microglia and complement at developing synapses in autism

    Funded Work
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  25. Role of UBE3A in the brain

    Funded Work
    Angelman syndrome is a severe neurodevelopmental disorder characterized by intellectual disability, motor dysfunction, seizures and the absence of speech, and it shows a high comorbidity with autism.
  26. Mobile technology for rapid screening and clinical prioritization of autism

    Funded Work
    Dennis Wall and his colleagues used machine learning to study gold-standard instruments used for assisting the diagnosis of autism.
  27. Regulation of gene expression through complex containing AUTS2

    Funded Work
    Certain gene mutations can compromise normal protein functioning, leading to heritable diseases.
  28. ERK signaling in autism associated with 16p11.2 copy number variation

    Funded Work
    The most common genetic cause of autism is the deletion or duplication of a small region of human chromosome 16.
  29. Identification and analysis of PI3K/mTOR signaling defects in autism

    Funded Work
    A major obstacle impeding the development of effective treatments for autism is the complexity of factors, such as genetic mutations, epigenetics and environmental influences that contribute to the …
  30. Role of Ube3a in neocortical plasticity and function

    Funded Work
    Angelman syndrome is a severe neurodevelopmental disorder characterized by intellectual disability, motor dysfunction, seizures and the absence of speech, and it shows a high comorbidity with autism.
  31. Modeling multiple heterozygous genetic lesions in autism using Drosophila melanogaster

    Funded Work
    Despite tremendous efforts to genetically and phenotypically characterize individuals with autism, we are still at the earliest stages of understanding how autism occurs.
  32. Probing the neural basis of social behavior in mice

    Funded Work
    A hallmark symptom of autism spectrum disorders is impairment in social interactions, yet little is known about the neural mechanisms underlying this deficit.
  33. Genetic investigations of motor stereotypies

    Funded Work
    Motor stereotypies, a core feature of autism, are involuntary, repetitive movements that are often associated with self-injury.
  34. Evaluation of a melanocortin agonist to improve social cognition in autism

    Funded Work
    A hallmark of autism is impairment in reciprocal social interaction, including inadequate eye contact and failure to recognize emotions.
  35. Multisensory processing in autism

    Funded Work
    In daily life, people often experience activation of multiple sensory systems at the same time.
  36. Endosomal NHE6 in long-range connectivity and autism

    Funded Work
    Perturbed neuronal arborization, or branching, and defects in long-range connectivity are likely to be shared mechanisms in many forms of severe autism.
  37. Social brain circuits and fever-evoked response in 16p11.2 mice

    Funded Work
    Pavel Osten and his colleagues at Cold Spring Harbor Laboratory in New York studied mouse brain circuits that mediate social and other innate behaviors, such as aggression and …
  38. Regulation of cortical critical periods in a mouse model of autism

    Funded Work
    Autism spectrum disorders are prevalent neurodevelopmental disorders that involve early postnatal symptoms and regression of developmental milestones within the first few years of life.
  39. Autism Genome Project Consortium data reanalysis using a novel computational biostatistics approach

    Funded Work
    Despite the high heritability of autism, the genetic risk factors are still poorly understood.
  40. Genomic influences on development and outcomes in infants at risk for autism

    Funded Work
    Several genes have been identified that contribute to the risk of developing autism spectrum disorders.
  41. Identification of candidate serum antibody biomarkers for autism

    Funded Work
    Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by impairments in social interaction and communication, and restricted, stereotyped behaviors that manifest in early childhood.
  42. Connections between autism, serotonin and hedgehog signaling

    Funded Work
    The chemical messenger serotonin has long been associated with autism.
  43. Measuring imitation and motor control in severe autism

    Funded Work
    We lack effective tools for assessing behavior and cognition in the most severely impaired individuals with autism.
  44. Genetic and environmental interactions leading to autism-like symptoms

    Funded Work
    Autism spectrum disorder is widely regarded as one of the most severe childhood psychiatric conditions.
  45. Developing fNIRS as a brain function indicator in at-risk infants

    Funded Work
    The younger siblings of children diagnosed with autism are at an increased risk for autism themselves.
  46. Efficacy of N-acetyl cysteine in autism

    Funded Work
    There is an immense need to find new treatments for children with autism.
  47. The Simons Center for the Social Brain

    Funded Work
    The mission of the Simons Center for the Social Brain at the Massachusetts Institute of Technology (MIT), directed by Mriganka Sur, is to understand the neural mechanisms underlying …
  48. Cerebellar signaling in mouse models of autism

    Funded Work
    Some forms of autism spectrum disorder include stereotyped, repetitive motor behaviors.
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