Autism Research

Important Molecular Targets of the Autism-Linked RORA Gene Identified

Source: 
Molecular Autism
Date Published: 
May 22, 2013
Abstract: 

Scientists from George Washington University identified hundreds of molecular targets of the RORA gene. Of these molecular targets, 426 are linked to autism by the AutismKB database.

Sporadic Autism Exomes Reveal a Highly Interconnected Protein Network of De Novo Mutations

Source: 
Nature
Date Published: 
April 4, 2012
Abstract: 

Researchers demonstrate that de-novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD.

Patterns and Rates of Exonic De Novo Mutations in Autism Spectrum Disorders

Source: 
Nature
Date Published: 
April 4, 2012
Abstract: 

Results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5 to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favor of CHD8 and KATNAL2 as genuine autism risk factors.

Levels of Select PCB and PBDE Congeners in Human Postmortem Brain Reveal Possible Environmental Involvement in 15q11-q13 Duplication Autism Spectrum Disorder.

Source: 
Environmental and Molecular Genetics
Date Published: 
August 29, 2012
Abstract: 

These results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics.

Source: 
Cell
Date Published: 
March 16, 2012
Abstract: 

A proportion of risk for schizophrenia, bipolar disorder, and autism can be explained by rare mutations. Alleles can have specific effects on behavioral and neuroanatomical traits; however, expressivity is variable, particularly for neuropsychiatric phenotypes

A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental Disabilities

Source: 
Environmental Health Perspectives
Abstract: 

To begin formulation of a systematic strategy for discovery of potentially preventable environmental causes of autism and other NDDs, the Mount Sinai Children’s Environmental Health Center convened a workshop on “Exploring the Environmental Causes of Autism and Learning Disabilities.” This workshop produced a series of papers by leading researchers and generated a list of 10 chemicals and mixtures widely distributed in the environment that are already suspected of causing developmental neurotoxicity.

Maternal Metabolic Conditions and Risk for Autism and other Neurodevelopmental Disorders

Source: 
Pediatrics
Date Published: 
May, 2012
Abstract: 

Maternal metabolic conditions may be broadly associated with neurodevelopmental problems in children. With obesity rising steadily, these results appear to raise serious public health concerns.

Rate of De Novo Mutations and the Importance of Father’s Age to Disease Risk

Source: 
Nature
Date Published: 
August 23, 2012
Abstract: 

The diversity in mutation rate of SNP's is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year.

A Novel Approach of Homozygous Haplotype Sharing Identifies Candidate Genes in Autism Spectrum Disorder

Source: 
Human Genetics
Date Published: 
April, 2012
Abstract: 

A large scale analysis identifies candidate genes which may contain low-frequency recessive variations contributing to ASD

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