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SYNGAP1

·October 14, 2024·5 min read

Human-Specific Genes Reveal Link Between Brain Growth and Autism

Researchers have found a link between two human-specific genes and the gene SYNGAP1, a factor in intellectual disabilities and autism spectrum disorders. These genes, SRGAP2B and SRGAP2C, slow down synapse development, a hallmark of prolonged brain growth thought to enhance learning in humans. By turning off these genes in human neurons, scientists observed accelerated brain connectivity development, mimicking changes seen in certain neurodevelopmental conditions.

Autism Featured Genetics Neuroscience

·November 9, 2023·6 min read

Autism Gene SYNGAP1’s Early Role in Brain Development

A new study uncovers unexpected early developmental impacts of SYNGAP1 gene variants linked to Autism Spectrum Disorder. By examining brain organoids, including those from a patient with a SYNGAP1 variant, researchers found the SYNGAP1 protein in progenitor cells, challenging the belief that it's only present in mature neuron synapses.

Autism Featured Genetics Neuroscience Open Neuroscience Articles Psychology

·May 5, 2019·4 min read

Gender-biased protein may play role in autism: Mouse study

204 proteins discovered were more highly regulated in females than males, with 31% of the proteins being associated with the development of Autism, researchers report. Findings shed new light on why males are at higher risk of ASD than females.

Featured Genetics Neuroscience

·April 26, 2019·4 min read

Gene repair improves memory and seizures in adult autism model

Researchers genetically restored levels of the SynGAP protein in adult mice who were deficient. Restoring the protein levels resulted in improved memory and a reduction in seizures related to the SYNGAP1 disorder, a form of autism. Findings suggest it is possible to extend the window of treatment for those with this specific form of ASD, beyond infancy and into adulthood.

Image shows a jigsaw with a dna strand on it.

Autism Featured Genetics

·September 1, 2017·6 min read

New Genetic Risk Factor For Autism Spectrum Disorder Identified

Researchers explore the role postzygotic mosaic mutations play in the development of autism spectrum disorders.

The image shows a complete neuron cell diagram.

Featured Neuroscience

·June 21, 2013·2 min read

Study Shows a Solitary Mutation Can Destroy Critical ‘Window’ of Early Brain Development

New research shows brain damage caused by the loss of a single copy of a gene during early neurodevelopment can cause a permanent behavioral and intellectual problems.