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TranSmart Informatics Platform to be Used in $1M Phelan-McDermid Syndrome Research Project

NEW YORK (GenomeWeb) – The TranSmart Foundation said today that its data-sharing and -analysis platform will be used by the Phelan-McDermid Syndrome Foundation and the Center of Biomedical Informatics at Harvard Medical School as part of a nearly $1 million contract research project.

The contract, from the Patient-Centered Outcomes Research Institute (PCORI), will support the team's efforts to collect and integrate previously gathered medial and research data "to advance knowledge and expedite research inquiries for families affected with Phelan-McDermid Syndrome," a genetic condition that can severely impact brain development and which has been associated with autism spectrum disorders, TranSmart said.

The Phelan-McDermid Syndrome Foundation and Paul Avillach at the Center for Biomedical Informatics at Harvard previously formed the Phelan-McDermid Syndrome Data Network (PMSDN), a project that with 28 others form PCORnet, a national network established by PCORI to conduct clinical outcomes research .

With the new contract, PMSDN will use TranSmart's open source knowledge management platform, cTAKES, a natural language processing tool, and the i2b2 (informatics for integrating biology and the bedside) data model to provide an informatics backbone for researchers to mine diverse datasets and share insights with the PCORnet research partners, TranSmart said.

"Using the functionality of i2b2 features in TranSmart, we are able to integrate patient and family-reported outcomes from the Phelan-McDermid Syndrome International Registry and electronic health records to help us effectively mine data and better understand" the syndrome, Avillach, the co-principal investigator at the PMSDN project at Harvard, said in a statement.