SYS-CON MEDIA Authors: Roberto Medrano, Dmitriy Stepanov, Gilad Parann-Nissany, Srinivasan Sundara Rajan, Sean Houghton

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Harvard Medical School and the Phelan-McDermid Syndrome Foundation Contract Leverages the tranSMART Open-Source Knowledge Management Platform

WAKEFIELD, MA -- (Marketwired) -- 07/21/14 -- The tranSMART Foundation, a non-profit organization providing a global, open-source knowledge management platform for scientists to share pre-competitive translational research data, announced today that the Phelan-McDermid Syndrome Foundation and the Center of Biomedical Informatics at Harvard Medical School were awarded a nearly $1 million contract from the Patient-Centered Outcomes Research Institute (PCORI) to undertake an exciting research endeavor that will leverage the tranSMART platform. The team will collect and integrate previously-siloed medical and research data to advance knowledge and expedite research inquiries for families affected by Phelan-McDermid Syndrome (PMS), a very rare genetic condition with a moderate to severe impact on brain development and strong association with autism spectrum disorders.

The Phelan-McDermid Syndrome Data Network (PMS_DN) is one of 29 projects totaling $93.5 million in funding that together form PCORnet, the National Patient-Centered Clinical Research Network, a secure, national data network that will improve the speed, efficiency, and use of patient-centered comparative effectiveness research (CER). Using tranSMART, the Natural Language Processing tool cTAKES and the i2b2 (Informatics for Integrating Biology and the Bedside) data model, the PMS_DN will provide an informatics backbone, helping researchers to mine diverse data sets and make and share meaningful insights with the PCORnet research partners.

"tranSMART is an amazing integration platform," said Paul Avillach, MD, Ph.D. co-PI of the PMS_DN project at the Center for Biomedical Informatics at Harvard Medical School. "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 PMS."

"I am thrilled by the robustness of tranSMART and the true passion brought by Dr. Paul Avillach and his team to leverage the technology to improve care and quality of life for our families," said Megan O'Boyle, Principal Investigator for the PMS_DN on behalf of the Foundation and a parent of a child with Phelan-McDermid Syndrome. "Together we will build a rich data resource that will further attract researchers with new hypotheses not just about PMS, but about related conditions including autism spectrum and seizure disorders."

"This project is an excellent example of the power our open-source platform has in enabling researchers from around the globe to easily collaborate and discover important insights in translational medicine," said tranSMART Foundation CEO Keith Elliston. "With the powerful analytics produced by tranSMART and the scalable informatics framework of the i2b2 data model, Harvard and the Phelan-McDermid Syndrome Foundation will make great strides in PMS research."

About The tranSMART Foundation
The tranSMART Foundation is a non-profit organization that provides an open-source, cloud-based, data-sharing and analysis platform that enables scientists at universities, disease foundations, pharmaceutical companies, and government agencies around the world to share pre-competitive data in a way that saves money and time in translating research findings into new therapies and diagnostic tools. Founded to steward the tranSMART platform, the Foundation is headquartered in Wakefield, Massachusetts with Centers of Excellence in Ann Arbor, Mich.; London, England; Boston, Mass.; and Amsterdam, Netherlands. The tranSMART Foundation can also be found on the web at www.tranSMARTFoundation.org.

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