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What is Autism?

Autism and autism spectrum disorders (ASDs) represent a group of developmental disorders ranging from autistic disorder, which is severe, to the milder Asperger syndrome. ASDs are characterized by impaired social interactions, problems with verbal and nonverbal communication, repetitive behaviors, and severely limited activities and interests. ASDs are understood to affect an estimated 1 in 68 children (as reported by the CDC). The risk is three to four times higher in males than females.

Our Approach

CSHL researchers are applying leading-edge scientific expertise in genetics, genomics and neuroscience to understand the causes of ASDs.

Genetics and genomics researchers scan and analyze genomes in an effort to understand the complex genetics of autism. Breakthrough discoveries made at CSHL about variations in human genome structure have been especially revealing.  CSHL’s pathbreaking work has demonstrated the importance in autism of spontaneous gene copy-number variations (CNVs)—mutations that appear in an autistic child but not in the genome of that child’s mother or father.

To better study autism, CSHL scientists have engineered a mouse model that replicates in a living mouse one serious genetic mutation frequently found in children with autism. These mice display many behaviors associated with ASDs and are an invaluable resource for future diagnostics and treatments.

CSHL experts in computational biology use advanced statistical analysis to examine the incidence of autism in families.  This analysis is the basis for a new “unified theory” of autism’s genetic basis.  The theory developed at CSHL helps to account for the observation that males are more likely to be affected by ASDs than females.

CSHL neuroscientists study the development, structure and function of neural circuits in the brain. Problems in circuitry are involved in most neuropsychiatric illnesses and we are looking for what specifically goes awry in the autistic brain.

CSHL Discoveries

  • New study casts sharpest light yet on genetic mysteries of autism
  • Autism genetically linked to Fragile-X Syndrome
  • Autism mouse model developed
  • Role of spontaneous mutations in ASDs
  • “Unified Theory” of Autism
  • Autism and hearing
  • Sensory integration and decision-making

Our Researchers