Adele Ruder

Medical Science Liaison      


Contributing Author

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Articles from Adele

AI-Based Next-Generation-Phenotyping for Rare Disease Diagnosis

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AI-Based Next-Generation-Phenotyping for Rare Disease Diagnosis

Rare diseases, which affect more than 300 million people worldwide, are often difficult to diagnose. Many patients wait five years or more for a correct diagnosis and are misdiagnosed at least once along this diagnostic odyssey. In addition to being a significant burden to patients’ well-being, low diagnostic rates also impact research and development in the rare disease space and challenge the success of marketed orphan drugs.