In this episode of ‘Rare and There’, Dr. Uma Ramaswami from the Royal Free Hospital in London provides an introduction into rare diseases, focusing on genetic, inherited disorders of the metabolism. Dr. Ramaswami outlines the current landscape of rare diseases and basic principles for how they are managed, along with common challenges patients may face. Inherent metabolic disease (IMD) centres are crucial to rare disease management, so how and when medical professionals should consider referring individuals is discussed.

This podcast was initiated, organised and funded by Amicus Therapeutics UK Operations Ltd and is intended for healthcare professionals in UK. The views expressed reflect the experience and opinions of the speaker. Individual experiences may vary.

NP-NN-UKI-00191024 (Date of preparation: October 2024)

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