Understanding rare diseases, such as Fabry disease, can help reduce the diagnostic delay and improve management of the disease. This series explores Fabry disea...
Rare diseases: Current landscape and the importance of IMD centres
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) Hosted on Acast. See acast.com/privacy for more information.
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Medical education for rare disease
Since many individuals with a rare disease can face years of delayed diagnosis and unnecessary testing, in the first episode of ‘Rare and There’, CEO of Medics4RareDiseases, Dr. Lucy McKay, covers why it is important for all medical professionals to learn about the basics of rare diseases to help further our understanding of the needs of the rare disease community, particularly regarding the impact on individuals and their relatives.This podcast was initiated, organised and funded by Amicus Therapeutics 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-00171024 (Date of preparation: October 2024) Hosted on Acast. See acast.com/privacy for more information.
Understanding rare diseases, such as Fabry disease, can help reduce the diagnostic delay and improve management of the disease. This series explores Fabry disease in discussions with clinical experts who share their practical experience and patient perspectives to help bring Fabry onto the radar of healthcare providers.This podcast is initiated, organised and funded by Amicus Therapeutics and intended for healthcare professionals in the UK and is not intended to replace the need for medical consultations. Copyright 2024 Amicus Therapeutics. All rights reserved. NP-NN-UK-00031124 DOP: November 2024 Hosted on Acast. See acast.com/privacy for more information.
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