Autism
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.
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.
- 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
- Lucas Cheadle, Ph.D.
- Alea Mills, Ph.D.
- Stephen Shea, Ph.D.
- Michael Wigler, Ph.D.
- Anthony Zador, M.D., Ph.D.
Finding the sweet spot in brain development
July 1, 2024
Short-lived neural connections in the mouse brain can have long-lasting effects on how the animal senses and interacts with the world.
At the Lab Episode 9: Musical mice
May 28, 2024
We put the ‘mice’ in ‘maestro,’ with singing lessons from Cold Spring Harbor Laboratory neuroscientist Arkarup Banerjee.
Autism genetics: The faces behind the data
May 16, 2024
CSHL research on autism involves massive databases with thousands of genomes. Meet a few of the brave individuals who help make this work possible.
At the Lab Episode 6: Supermoms to the rescue
May 7, 2024
Happy almost Mother’s Day! What drives a supermom to come to the rescue when her child is upset? CSHL’s Stephen Shea shares the biological backstory.
At the Lab Episode 3: Autism Awareness Month
April 16, 2024
It’s Autism Awareness Month! CSHL Professor Ivan Iossofiv shares what researchers know about autism so far and how they plan to uncover its origins.
Animal behavior quiz
December 20, 2023
Take this short quiz to see how much you know about the science of social behavior.
Reactivate, repurpose, and rewire the brain
October 4, 2023
New CSHL research on Rett syndrome could also have implications for autism spectrum disorders, dementia, and Alzheimer’s disease.
The evolution of autism research
May 25, 2023
The conversation around autism has evolved over the past two decades. So has CSHL research. This retrospective shows how we’ve helped move the needle.
Autism in the family tree
May 23, 2023
CSHL scientists have studied the genetics of autism across hundreds of family trees. This animated video shows what they’ve found.
Siblings with autism share more of dad’s genome, not mom’s
May 22, 2023
CSHL study of more than 6,000 volunteer families overturns a long-held assumption about the genetic origins of autism spectrum disorder.