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About This Podcast
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
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Recent Episodes
S1E6 Communication skills in clinical practice for rare diseases
The sixth instalment of ‘Rare and There’ invites Dr. Lisa Kauffman an expert in communication skills for clinicians. She shares her insights on how to improve communication skills in clinical…
S1E5 Rare diseases in cardiology clinical practice
Cardiac involvement is common for rare diseases and carries a major prognostic impact, particularly for Fabry disease. This week Professor Richard Steeds and Dr. Ashwin Roy, consultant cardiologists…
S1E4 Health inequalities in rare disease
In this episode, Dr. Sondra Butterworth shares her vision and values of enhancing wellbeing and promoting inclusivity for individuals with rare diseases. Dr. Butterworth is a community health…
S1E3 Demystifying genetic testing in rare diseases
Dr. Viraj Patel, a clinical geneticist from Guy's and St Thomas' in London, discusses what is involved in genetic testing to identify individuals with rare diseases. Dr. Patel discusses what has…
S1E2 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.…
S1E1 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…
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Rare and There has published 6 episodes since November 2024, covering topics in Science.
Rare and There is currently dormant with new episodes every 2 weeks. Average episode length is 29m.
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