Background The United Nations recently made a call to address the challenges of an estimated 300 million persons worldwide living with a rare disease through the collection, analysis, and dissemination of disaggregated data. Epidemiologic Information (EI) regarding prevalence and incidence data of rare diseases is sparse and current paradigms of identifying, extracting, and curating EI rely upon time-intensive, error-prone manual processes. With these limitations, a clear understanding of the variation in epidemiology and outcomes for rare disease patients is hampered. This challenges the public health of rare diseases patients through a lack of information necessary to prioritize research, policy decisions, therapeutic development, and health system allocations. Methods In this study, we developed a newly curated epidemiology corpus for Named Entity Recognition (NER), a deep learning framework, and a novel rare disease epidemiologic information pipeline named EpiPipeline4RD consisting of a web interface and Restful API. For the corpus creation, we programmatically gathered a representative sample of rare disease epidemiologic abstracts, utilized weakly-supervised machine learning techniques to label the dataset, and manually validated the labeled dataset. For the deep learning framework development, we fine-tuned our dataset and adapted the BioBERT model for NER. We measured the performance of our BioBERT model for epidemiology entity recognition quantitatively with precision, recall, and F1 and qualitatively through a comparison with Orphanet. We demonstrated the ability for our pipeline to gather, identify, and extract epidemiology information from rare disease abstracts through three case studies. Results We developed a deep learning model to extract EI with overall F1 scores of 0.817 and 0.878, evaluated at the entity-level and token-level respectively, and which achieved comparable qualitative results to Orphanet’s collection paradigm. Additionally, case studies of the rare diseases Classic homocystinuria, GRACILE syndrome, Phenylketonuria demonstrated the adequate recall of abstracts with epidemiology information, high precision of epidemiology information extraction through our deep learning model, and the increased efficiency of EpiPipeline4RD compared to a manual curation paradigm. Conclusions EpiPipeline4RD demonstrated high performance of EI extraction from rare disease literature to augment manual curation processes. This automated information curation paradigm will not only effectively empower development of the NIH Genetic and Rare Diseases Information Center (GARD), but also support the public health of the rare disease community.

Social media has become an important resource for discussing, sharing, and seeking information pertinent to rare diseases by patients and their families, given the low prevalence in the extraordinarily sparse populations. In our previous study, we identified prevalent topics from Reddit via topic modeling for cystic fibrosis (CF). While we were able to derive/access concerns/needs/questions of patients with CF, we observed challenges and issues with the traditional techniques of topic modeling, e.g., Latent Dirichlet Allocation (LDA), for fulfilling the task of topic extraction. Thus, here we present our experiments to extend the previous study with an aim of improving the performance of topic modeling, by experimenting with LDA model optimization and examination of the Top2Vec model with different embedding models. With the demonstrated results with higher coherence and qualitatively higher human readability of derived topics, we implemented the Top2Vec model with doc2vec as the embedding model as our final model to extract topics from a subreddit of CF (“r/CysticFibrosis”) and proposed to expand its use with other types of social media data for other rare diseases for better assessing patients' needs with social media data.

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