Intelligent detection and diagnosis of rare diseases: A case for AI

Originally aired: Thursday, 15 July 2021

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Overview

There is much confusion around the theory and definition of artificial intelligence (AI) and how it can be best applied to advance society’s goals, particularly in the area of biomedical research. As part of our ongoing series on rare diseases, this webinar will attempt to explain the foundational concepts of AI and explore how it is being applied to help identify, diagnose, and test for 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.

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Presenters

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