Leveraging open source knowledge management

The Phelan-McDermid Syndrome Foundation and the Center for Biomedical Informatics at Harvard Medical School have received a $1 million contract from the Patient-Centered Outcomes Research Institute (PCORI) to leverage the open source knowledge management platform tranSMART.

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, a rare genetic condition with a moderate to severe impact on brain development.

The Phelan-McDermid Syndrome Data Network (PMS_DN) will provide an informatics backbone, helping researchers to mine diverse data sets and to make and share insights with research partners from the National Patient-Centered Clinical Research Network. The PMS_DN will use tranSMART as well as the natural language processing tool cTAKES and the data model i2b2, which stands for Informatics for Integrating Biology and the Bedside.

Paul Avillach, M.D., Ph.D. and co-PI of the PMS_DN project at the Center for Biomedical informatics, says, “TranSMART is an amazing integration platform. 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.”

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