Bio-IT World Focuses on Rare Disease Data

Why this is here: Rare Answers, a clinical decision support platform, was designed in collaboration with two children’s hospitals and several data science companies to help diagnose rare diseases.

Thomas Bartlett of MG Uniter Myasthenia Gravis spoke at the Bio-IT World Conference in Boston, describing his experience with late-onset myasthenia gravis. The 25th annual conference opened with a plenary session addressing challenges in rare disease research and treatment. Bartlett highlighted the need to plan around his disease’s effects on daily life and the difficulty of receiving a diagnosis, a common issue for those with rare conditions.

Researchers estimate that roughly one in ten Americans will experience a rare disease. A key difficulty lies in aggregating data from many smaller centers, requiring detailed data standardization. Sebastien Lefebvre of Aurelis Insights described Rare Answers, a platform designed to aid in rare disease diagnosis, while William Van Etten of StarfleetBio introduced an app allowing individuals to host and control their genome data on their smartphones.

However, challenges remain in designing clinical trials for fluctuating conditions and incorporating real-world data into clinical assessments. The conference continues to explore these issues, seeking ways to improve diagnosis and treatment for the estimated 7–8,000 rare genetic diseases.