Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities
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Updated: Oct 12, 2025

Introduction of an Integrated Pathology Image Management, Artificial Intelligence, and Reporting System
Published on: July 11, 2025
Navid Hasani1, Faraz Farhadi2, Michael A Morris3
1Department of Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, 9000 Rockville Pike, Building 10, Room 1C455, Bethesda, MD 20892, USA; University of Queensland Faculty of Medicine, Ochsner Clinical School, New Orleans, LA 70121, USA.
Abstract:
Almost 1 in 10 individuals can suffer from one of many rare diseases (RDs). The average time to diagnosis for an RD patient is as high as 7 years. Artificial intelligence (AI)-based positron emission tomography (PET), if implemented appropriately, has tremendous potential to advance the diagnosis of RDs. Patient advocacy groups must be active stakeholders in the AI ecosystem if we are to avoid potential issues related to the implementation of AI into health care. AI medical devices must not only be RD-aware at each stage of their conceptualization and life cycle but also should be trained on diverse and augmented datasets representative of the end-user population including RDs. Inability to do so leads to potential harm and unsustainable deployment of AI-based medical devices (AIMDs) into clinical practice.
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