SFARI | Search Results for “ben-ari”

Detecting and treating social impairments in a monkey model

The core social impairments that characterize autism spectrum disorder (ASD) remain poorly understood. Improved understanding of ASD has been hindered by the inability to directly study brain tissue in ASD patients, and mice lack the complex social capabilities found in humans and other primates. These limitations have impeded the discovery of ASD biomarkers and the development of promising medications to treat social deficits seen in ASD.

Neurobiology of RAI1, a critical gene for syndromic autism spectrum disorders

Smith-Magenis syndrome (SMS) is an autism-like neurodevelopmental disorder that causes, among other things, motor and learning disability and obesity. SMS affects 1 in 15,000 to 25,000 people, mostly due to the spontaneous loss of a segment of chromosome 17 in the sperm or the egg that produces the embryo. Loss of one copy of the RAI1 gene, which is located within this chromosomal region, recapitulates most of the symptoms of SMS. Further, having an extra copy of the RAI1-containing segment causes the autism spectrum disorder Potocki-Lupski syndrome (PTLS). While alterations in RAI1 copy number has been linked to a number of neurodevelopmental disorders, the precise function of RAI1 in the brain remains unclear. Liqun Luo and his colleagues at Stanford University aim to understand why changing RAI1 copy number leads to compromised cognitive ability and autism-like symptoms.

Characterizing sensory hypersensitivities in autism

Nearly 90 percent of children with autism are estimated to suffer from sensory abnormalities, often hypersensitivities, to stimuli that a neurotypical individual could ignore. These hypersensitivities can, in principle, be caused by abnormally acute sensory capabilities. However, empirical data contradict this possibility; individuals with autism do not differ systematically from neurotypical controls in their sensory acuity. Pawan Sinha and his colleagues at the Massachusetts Institute of Technology plan to consider an alternative account of hypersensitivities in autism.

How do autism-related mutations affect basal ganglia function?

Significant progress has been made in recent years in identifying genetic factors contributing to autism. Although the genes identified have diverse biological functions, many of them are important for controlling the structure and function of the connection points between brain cells, called synapses. Alterations in synapse function affect the ability of brain cells to communicate with each other, and can lead to imbalanced or inappropriate activity in brain networks.

Immune p38-alpha MAPK activation: Convergent mechanism linking autism models

Autism appears to be caused by a complex interplay of genetic and environmental factors. Over the past decade, scientists have established multiple animal models of autism using both genetic and environmental manipulations, demonstrating the presence of communication and social behavior deficits in these animals, as well as the presence of repetitive behaviors characteristic of individuals with autism. Randy Blakely and his colleagues at Vanderbilt University in Nashville, Tennessee, believe that the activation of a class of enzymes known as p38-alpha MAP kinases (p38-alpha MAPK) may underlie the ability of both genetic and environmental factors to produce autism.

The tissue-specific transcriptome anatomy of 16p11.2 microdeletion syndrome

Reciprocal copy number variation (CNV), or duplication or deletion, of the 16p11.2 region of chromosome 16 causes a multi-system genomic disorder. While there has been a concerted research effort to characterize the clinical symptoms of this disorder, we still do not understand the mechanisms driving many of the phenotypes observed. Michael Talkowski and his colleagues aim to investigate the tissue-specific transcriptional consequences of deletion and duplication of the genes within the 16p11.2 microdeletion or duplication segment in mouse models harboring deletion or duplication of the syntenic genomic segment 7qf3.

Pathogenic roles of paternal-age-associated mutations in autism

Statistical methodology and analysis of the Simons Simplex Collection and related data

Since 2008, Abba Krieger, Andreas Buja and their colleagues in the statistics department at the Wharton School of the University of Pennsylvania have carried out various statistical analyses on genotype (genetically coded information) and phenotype (outward manifestation of that information) data from individuals with autism.

The Autism Inpatient Collection: Characterizing the severely affected autism population

Advancing scientific knowledge for individuals severely affected by autism is a strategic priority for the leading autism science foundations and the National Institutes of Health. Knowledge and treatment options continue to lag for those who are nonverbal, have an intellectual disability or display challenging behaviors, in large part due to these groups’ underrepresentation in study samples. To address this critical knowledge gap, the Autism and Developmental Disorders Inpatient Research Collaborative (ADDIRC) is performing the Autism Inpatient Collection (AIC) study.

Autism and the RASopathies

Lauren Weiss and her colleagues used a ‘pathway’ approach — looking at a group of genes connected in a defined biological pathway — to investigate the role of the RAS/MAPK signaling pathway in autism traits. This pathway controls many cellular functions. The researchers compared a large sample representing individuals with RASopathies — genetic, developmental disorders caused by mutations activating the RAS/MAPK pathway — with unaffected siblings and individuals with autism.