About: Catherine

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

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

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

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.