HHV Innovation Day Presentations
Novartis / Symptoma

Identifying rare disease patients with the power of AI

SIRIUS stands for Systematic Identification of RP patIents thrU algorithmic Screening and is a pilot project in collaboration with Novartis Pharma GmbH Austria and scale-up Symptoma.

For rare diseases, misdiagnosis and delayed diagnosis are quite common. Patients usually have to wait years from first symptoms until diagnosis, whereas about 75% of all rare disease patients are estimated to be undiagnosed yet.

Analysis of Electronic Health Records (EHRs) applying Symptoma’s disease database and AI algorithms will establish a viable method to uncover patients with a high RP (Retinitis pigmentosa) / LCA (Leber congenital amaurosis) probability – confirmed by medical follow-up investigations.

Symptoma has many years of global experience (>15) in misdiagnosis of rare genetic diseases and an extensive network in the healthcare system. They already have proven their experience and success when it comes to hit rate and high accuracy in sensitivity and specificity.

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