PMS is an orphan genetic condition caused by deletions of 22q13 or mutations of the SHANK3 gene. The syndrome presents with an array of characteristics, but the manifestations are profound, and parents and caregivers must advocate for PMS patients throughout the life’s course.
The PMS Foundation (PMSF) was founded in 2002 by families of children diagnosed with PMS to further research. PMSF believes that not only should patients be at the center of research, those that are doing it well have a commitment to the greater community to share best practices.
In 2011, in collaboration with researchers and advisors, PMSF launched an international patient registry, PMSIR to empower both researchers and parents to address issues fundamental to the quality of a PMS patient’s life. Founded by parents, PMSIR is driven by parents, governed by parents, and will be transformed by parents who are stakeholders in the success of a standardized research data network. Currently, it has 546 active participants, 49.6% of the world’s known patients. Because PMSIR is well established and parent constituents are committed to the mission, PMSF is uniquely positioned to expand the existing parent network through building transformative infrastructure to become a model patient-powered network.
The real value in biomedical research lies not in the scale of any single source of data, but in the ability to integrate and interrogate multiple, complementary datasets simultaneously. Combining data across different scales and resolutions such that reliable results can be generated to address important questions is non-trivial. Thus, the principal challenge is not a lack of data, but how best to make sense of it.
The PMS Data Network will continue to encourage active participation and leadership of PMS families, and enhance organizational structure and capacity to further develop PMSIR into a comprehensive data network. This project will build a dedicated network to enable scientists to have access to all available knowledge from PMS patients. Multiple data feeds will be established to extract and link data from well-characterized patient and population cohorts from electronic health records into the backbone informatics architecture provided by the open source, i2b2 based, tranSMART platform with rich phenotype extraction via Apache cTAKES. Such datasets must meet the needs of researchers (including support for diverse scientific collaborations with networks that are funded by PCORI or others, while simultaneously preserving security and maintaining appropriate privacy and ethical safeguards. Through models such as this, we will advance research in PMS and SHANK3, improving the quality of life of PMS patients.