This article highlights best practices in diagnostic approaches for rare diseases, suggesting collaborative methods to enhance access for patient-participants.
For persons living with an undiagnosed disease and their families, finding an accurate diagnosis can be a long and complex process. Having a rare condition that goes undiagnosed for a long period constitutes a significant part of these patients' disease burden. This article suggests the importance of international collaborative approaches to rare disease diagnostic practices and describes how the Undiagnosed Diseases Network can draw on best practices and clinical networks to motivate patient-participants' access to rare disease diagnoses.
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Anaid Kassidy Corona-Andaverde (2025) studied this question.
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