Tracking auto-immune diseases in electronic health record

Project Summary

The collection of biomedical data requires a multitude of software tools for purposes ranging from websites for patients’ follow-ups to alarm algorithm for medical monitoring by physicians or large scale collection of data for epidemiological analyses. Yet many more opportunities remain to leverage technology to better patients’ care. To date, vast amount of human and technical efforts have already been spent on genetic disorders and the emergence of deep-sequencing analyses for patients’ samples has led to significant progress. However, rare auto-immune diseases, which can affect multiple organs simultaneously, have yet to be thoroughly investigated and effectively reported in the electronic health record.

This project aims to create and describe new tools to obtain a comprehensive view of all autoimmune diseases in the scientific literature and how it can be represented in electronic health record. The project will focus on curation and extraction of data using several databases (ORDO, Pubmed and medical records). This work, already initiated, will be done in collaboration with the Assistance Publique – Hôpitaux de Paris – AP-HP, rare disease nomenclature expert Orphanet and the Human Phenotype Ontology HPO.

Maud de Dieuleveult