Your Help Is Needed - New U.S. PMS Research Study Announced
Dr. Walter Kaufmann and his colleagues at Harvard/Children’s Hospital, Boston, are conducting a research study about Phelan-McDermid Syndrome. They are interested in contacting U.S. families with children affected by Phelan McDermid Syndrome and conducting a phone interview with them.
If you are interested in participating in this study or simply hearing more about the research, please send an email or call Dr. Lindsay Oberman
(401) 432-1162, who will be coordinating this research. Thank you for your support.
Phelan-McDermid Syndrome Foundation team approved for funding award to be part of National Clinical Research Network
A team led by the Phelan-McDermid Syndrome Foundation has been approved for a funding award from the Patient-Centered Outcomes Research Institute (PCORI) to develop and expand a health data network that will be part of PCORnet: the National Patient-Centered National Clinical Research Network.
The Phelan-McDermid Syndrome Data Network is one of 29 that were approved Dec. 17 for a total of $93.5 million. Together, they will form a new national resource that aims to boost the efficiency of health research.
The PMS Data Network, to be developed in conjunction with Paul Avillach, MD, PhD at the Center for Biomedical Informatics at Harvard Medical School, looks to supplement families’ self-reported information in the Registry with electronic health records to increase the depth of knowledge about PMS.
"The knowledge from clinical notes will be extracted by the Apache cTAKES framework" says Guergana Savova, PhD, PI of the Clinical Natural language processing team at Boston Children Hospital. Multiple data feeds will then be established to extract and link data from well-characterized patient and the backbone informatics architecture provided by the open source, i2b2 based, tranSMART platform. This will help researchers to mine much more meaningful information for future studies of those diagnosed with PMS.