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Autism Speaks to Fund $5.2 Million in Genetics Studies for Early Biomarker Diagnosis

Posted Apr 09 2010 12:00am

Begley-parenting-illustrati-vertical GenomeWeb.com  reports on $5.2 million in Autism Speaks grant money allocation. Proteomics is defined as, "the study of genetics which refers to all the proteins expressed by a genome; proteomics involves the identification of proteins in the body and the determination of their role in physiological and pathophysiological functions." Genomics is "the study of all of the nucleotide sequences, including structural genes, regulatory sequences, and noncoding DNA segments, in the chromosomes of an organism." Bold markings are the ours, not the article's. Does this point to prenatal testing as the goal? How "early" is early diagnosis?

Autism Speaks Funds New Genomics Programs
April 09, 2010

NEW YORK (GenomeWeb News) – Autism advocacy organization Autism Speaks will fund genomics and proteomics studies through a set of new grants announced this week totaling $5.2 million.

Of these grants, nearly $900,000 will fund two three-year studies involving genomics and proteomics, including an effort to discover biomarkers that could be used to diagnose autism spectral disorder earlier, and research into a gene that could be used in development of a better animal model for studying autism-related genetics.

One Autism Speaks grant will give $449,000 to the Institute of Biotechnology at the University of Cambridge for a project to seeking to identify a serum-based panel of biomarkers for minimally-invasive early diagnosis of ASD and for the potential for distinguishing various subtypes of the condition using proteomic platforms.

Cambridge researcher Sabine Bahn will serve as principal investigator on the grant. Her team has already identified a prototype panel using the Luminex xMAP platform that can distinguish Asperger’s subjects from matched controls in a small clinical cohort.

The team plans to develop this panel further through profiling analyses of additional cohorts that reflect the spectrum of the condition using age and gender-matched controls. The second phase of the project will test the prototype panel using larger cohorts to identify the most robust biomarker patterns for identifying ASD at the earliest possible clinical phase. The availability of these panels is expected to enable increased understanding of the underlying molecular mechanisms involved in ASD, earlier diagnosis of affected individuals, early intervention approaches, and identification of potentially novel treatment strategies.

A $450,000 grant to Yong-Hui Jiang of Duke University will fund research on the molecular pathogenesis of ASD. The project will focus on mutations in the SHANK3 gene that have been found in a small but significant number of individuals with ASD.

Jiang’s team will dissect the SHANK3 protein network, assess its synaptic structure and function, and evaluate behavioral changes in an ASD animal model the team already developed.

Results from this study may be used to understand the role of SHANK3 in synaptic function or to produce a valid mouse model to dissect the pathogenesis of ASD using cutting-edge neurobiological and neuroimaging techniques in the future.

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