{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T23:10:21Z","timestamp":1779405021040,"version":"3.53.1"},"reference-count":0,"publisher":"IOS Press","isbn-type":[{"value":"9781643686615","type":"electronic"}],"license":[{"start":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:00:00Z","timestamp":1779321600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,21]]},"abstract":"<jats:p>Patients with rare diseases often endure a 4-5-year diagnostic odyssey. Patient-generated data on social media remains an untapped resource for understanding rare diseases. This study characterizes patient descriptions of rare disease from social media and systematically compares patient-reported symptoms to literature-documented ones. 166 unique rare diseases were identified from 229 patient posts. A hybrid human-AI framework using GPT-4 with full manual verification was used to extract and standardize patient-reported symptoms, which were then compared against symptoms documented in PubMed. The most frequent patient-reported symptoms were motor impairment, ataxia, pain, and fatigue. A low average overlap was observed between patient-reported symptoms and clinical literature. Patient narratives emphasized quality-of-life impacts (e.g., fatigue, anxiety), whereas clinical literature focused on diagnostic markers (e.g., dysarthria, dysphagia). Patient-generated data reveals underreported symptoms that are particularly meaningful to patients and complement clinical findings. Harnessing these real-world insights holds immense potential to shorten the diagnostic odyssey, inform patient-centered care, and guide future research priorities for rare diseases.<\/jats:p>","DOI":"10.3233\/shti260703","type":"book-chapter","created":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T22:13:30Z","timestamp":1779401610000},"source":"Crossref","is-referenced-by-count":0,"title":["Harnessing Patient-Generated Data for Rare Disease Knowledge Enrichment: A Pilot Study"],"prefix":"10.3233","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-2216-4530","authenticated-orcid":false,"given":"Selina Wai Yan","family":"Hui","sequence":"first","affiliation":[{"name":"Department of Neuroscience (Computational Neuroscience), University of Southern California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2926-1063","authenticated-orcid":false,"given":"Fangyi","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Columbia University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5585-982X","authenticated-orcid":false,"given":"Kai","family":"Wang","sequence":"additional","affiliation":[{"name":"Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children\u2019s Hospital of Philadelphia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9624-0214","authenticated-orcid":false,"given":"Chunhua","family":"Weng","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Columbia University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7437","container-title":["Studies in Health Technology and Informatics","Opening the Personal Gate between Technology and Health Care"],"original-title":[],"link":[{"URL":"https:\/\/ebooks.iospress.nl\/pdf\/doi\/10.3233\/SHTI260703","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T22:13:30Z","timestamp":1779401610000},"score":1,"resource":{"primary":{"URL":"https:\/\/ebooks.iospress.nl\/doi\/10.3233\/SHTI260703"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,21]]},"ISBN":["9781643686615"],"references-count":0,"URL":"https:\/\/doi.org\/10.3233\/shti260703","relation":{},"ISSN":["0926-9630","1879-8365"],"issn-type":[{"value":"0926-9630","type":"print"},{"value":"1879-8365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,21]]}}}