Category Archives: News: Research

STX1A and Asperger syndrome replication study published

Autism spectrum conditions (ASC) are a group of conditions characterized by difficulties in communication and social interaction, alongside unusually narrow interests and repetitive, stereotyped behaviour. Genetic association and expression studies have suggested an important role for the GABAergic circuits in ASC. Syntaxin 1A (STX1A) encodes a protein involved in regulation
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Gene Scoring Module Published

In collaboration with the Simons Foundation, scientists at MindSpec co-authored an article in Molecular Autism describing the new Gene Scoring module of SFARI Gene. SFARI Gene is the name by which the Simons Foundation licenses MindSpec’s Autism Database (AutDB), the first genetic database for autism.  First released in 2007, AutDB
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Gene Co-expression Analysis Published

In collaboration with the Mitra Lab at Cold Spring Harbor Laboratory, MindSpec published an original research article in PLoS Computational Biology. Their study identified enriched expression of autism risk genes within the cerebellum, a brain region important for balance and movement.  They first utilized the Allen Brain Atlas to analyze
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CNV Prioritization Published

MindSpec proudly announces publication of an original research article in PLoS One, prioritizing copy number variants (CNVs) linked to autism. The genome-wide list of CNVs was compiled from the autism database AutDB (http://autism.mindspec.org/autdb/Welcome.do), licensed to the Simons Foundation as SFARI Gene.  As an integrated, modular genetic database for autism, AutDB
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Genetic Testing Book Chapter Published

MindSpec recently published their second book chapter by InTech Open Access publishers, summarizing the current state of genetic testing for autism. The authors emphasized that at present, genetic tests cannot diagnose autism spectrum disorders (ASD); they can only identify genetic variants potentially responsible for ASD pathogenesis in a given individual. 
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Predictive Gene Map Paper Published

MindSpec published anoriginal research article in PLoS One detailing a predictive gene map for autism based on AutDB gene sets.  After compiling a reference set of 84 autism genes, we profiled of their functions and expression patterns.  We then screened the human genome  to identify 442 potential novel autism candidate
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AutDB Animal Model module published

MindSpec published a description of the AutDB Animal Model module in BMC Medical Genomics.  This module provides a comprehensive resource of ASD-related animal models which are linked to corresponding candidate genes in the original Human Gene module.  Notably, animal models are annotated with a new standardized vocabulary of phenotypic terms
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SFARI Gene Published

MindSpec Founder/President Sharmila Banerjee Basu collaborated with Alan Packer of the Simons Foundation to publish a commentary in Disease Models and Mechanisms about SFARI Gene, the version of AutDB licensed to the Simons Foundation.
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Collaboration with Simon Baron-Cohen

Collaboration between MindSpec Founder/President Sharmila Banerjee-Basu and Simon Baron-Cohen, the Director of the Autism Research Centre at Cambridge University, resulted in a publication in Autism Research.  The article described types of genes that they found to be associated with autistic traits, empathy, and Asperger syndrome: genes related to sex steroids,
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