Genomics

The Genetic Variability and Commonality of Neurodevelopmental Disease

Source: 
American Journal of Medical Genetics; Part C, Seminars in Medical Genetics
Date Published: 
May 15, 2012
Abstract: 

Copy Number Variations suggest that the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes

A Common X-linked Inborn Error of Carnitine Biosynthesis May be a Risk Factor for Nondysmorphic Autism.

Source: 
Proceedings of the National Academy of Sciences of the United States of America
Date Published: 
May 22, 2012
Abstract: 

These data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.

Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism

Source: 
Science Translational Medicine
Date Published: 
April 25, 2012
Abstract: 

Using a mouse model with behaviors relevant to the three diagnostic behavioral symptoms of autism, researchers used a genetic approach to reduce repetitive behaviors and partially reverse the striking lack of sociability in these mice.

FMR1 Knockout Mice Observed to have Hyperactive Neural Firing Rates

Source: 
Nature: Neuroscience
Date Published: 
June 2, 2013
Abstract: 

Researchers at UCLA observed hyperactive firing rates in the brains of FMR1 knockout mice; mice engineered to have symptoms similar to those in ASD and Fragile X syndrome.

Methylomic Analysis of Monozygotic Twins Discordant for Autism Spectrum Disorder and Related Behavioural Traits

Source: 
Molecular Psychiatry
Date Published: 
April 23, 2013
Abstract: 

This study suggests environmentally driven changes to the epigenome may contribute to the development of ASD and ASD-related behaviors. The study, which involved identical twins who were discordant for ASD and related traits, is the first large-scale examination of the role of genome-wide DNA methylation in ASD.

Global Increases in Both Common and Rare Copy Number Load Associated with Autism

Source: 
Human Molecular Genetics
Date Published: 
March 27, 2013
Abstract: 

Penn State researchers link autism to increased genetic change in "hotspots", regions of the genome that are highly susceptible to mutation.

Mother's Drive Helps Research on Rare Autism-linked Mutation

Source: 
SFARI
Date Published: 
March 14, 2013
Abstract: 

A mother with two sons with autism helps advance research on neuroligin-4 mutations.

SFARI Gene

Source: 
SFARI
Date Published: 
February 21, 2013
Abstract: 

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.

Sex Differences in Autism Spectrum Disorders

Source: 
Current Opinion in Neurology
Date Published: 
February 13, 2013
Abstract: 

A review of current research shows that ASD affects females less frequently than males and suggests this difference may be due to several sex-differential genetic and hormonal factors.