Intelligent detection and diagnosis of rare diseases

This podcast is the audio recording of a webinar launched by Science Magazine and Fonation Ipsen.

This episode will attempt to explain the foundational concepts of AI and
explore how it is being applied to help identify, diagnose, test for,
and manage complex disorders, including rare diseases, in global
populations. Detection of rare disease is uniquely amenable to analysis
using AI, in part because the symptoms and laboratory tests can provide a
disease-specific “signature” that software can be trained to recognize.
But essential to these efforts is the collection and storage of
accurate and reliable data in accessible databases. Experts will discuss
how such data can be gathered and analyzed, including the application
of technologies such as AI to comb through thousands of medical records
to detect both known and new rare diseases, and to understand how to
best manage these conditions.

With:

Ben Solomon, M.D. (NHGRI, NIH, Bethesda, MD)
Sylvia Thun, M.D. (Charité Mental Health, Berlin, Germany)
Julián Isla (Foundation 29, Madrid, Spain)
Sandra Brasil, Ph.D. (Portuguese Association for Congenital Disorders of Glycosylation, Caparica, Portugal)
Sean Sanders, Ph.D. (Moderator, Science/AAAS, Washington, DC)

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