Researchers unexpectedly found that neural complement proteins may have a roll in the elimination of connections between brain cells, potentially driving disease progression.
SFARI Gene is an integrated resource for the autism research community. It is a publicly available, curated, web-based, searchable database for autism research. This resource is built on information extracted from the studies on molecular genetics and biology of Autism Spectrum Disorders (ASD). The genetic information includes data from linkage and association studies, cytogenetic abnormalities, and specific mutations associated with ASD.
Stanford researchers, including ASF Grantee Alex Shcheglovitov, discovered a key mechanism underlying Timothy syndrome, a disorder associated with ASD.
Abnormally high production of neuroligins, proteins involved in synapse formation, resulted in ASD symptoms in mice. Researchers reversed ASD symptoms by reducing neuroligin synthesis.
Unpublished data presented at the 2012 Society for Neuroscience annual meeting show at least 30 genes show altered expression in brain tissue of people with autism. The ongoing study aims to include more samples than previous postmortem studies, and includes samples lost in Harvard’s freezer malfunction.
In an important test of one of the first drugs to target core symptoms of autism, researchers at Mount Sinai School of Medicine are undertaking a pilot clinical trial to evaluate insulin-like growth factor (IGF-1) in children who have SHANK3 deficiency (also known as 22q13 Deletion Syndrome or Phelan-McDermid Syndrome), a known cause of autism spectrum disorder (ASD).
Vanderbilt scientists report that a disruption in serotonin transmission in the brain may be a contributing factor for autism spectrum disorder (ASD) and other behavioral conditions.