Autism

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.