Details and Information
Areas of Focus: Phelan-McDermid Syndrome
Population Characteristics: Pediatric, Rare Disease, Developmental Disabilities
Organization: Phelan-McDermid Syndrome Foundation
Contact: [email protected]
Principal Investigator: Megan O’Boyle, BA
About Phelan-McDermid Syndrome
The Phelan-McDermid Syndrome Data Network (PMS_DN) advances knowledge, care, and treatment of Phelan-McDermid Syndrome (PMS) and related conditions by integrating patient-reported outcomes, genetic data, and clinical notes from medical records into a richly populated, high quality i2b2/tranSMART database to accelerate patient-centered research. The PMS_DN includes 40% of the world’s PMS diagnosed population and 3% of the total estimated (including undiagnosed) PMS population in the United States.
The PMS_DN is a collaboration between the Phelan-McDermid Syndrome Foundation, Harvard Medical School Department of Biomedical Informatics, and Boston Children’s Hospital. These partners balance application of novel technologies with a culture of transparency and authentic engagement of families in the research process (recently demonstrated through a Patient-Centered Outcomes Workshop at the 2016 PMS International Family Conference), with strategies and lessons learned shared openly with partner PPRNs and CDRNs. PMS is at the intersection of rare disease, autism, seizure disorders, and intellectual and development disability: discoveries made by these investigator communities leveraging the PMS_DN and PCORnet infrastructure will improve meaningful outcomes for a vast array of conditions impacting patients, families, and caregivers.
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