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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