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 from Birmingham, cover the key things cardiologists need to know about rare conditions like Fabry disease. Providing advice on what healthcare professionals should do in clinical practice, including other investigations and imaging to consider, and also touch on who to contact for advice when suspecting a rare disease.

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 speakers. Individual experiences may vary.

NP-NN-UKI-00151024 (Date of preparation: October 2024)

Hosted on Acast. See acast.com/privacy for more information.

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 psychologist and the CEO and Founder of RareQoL, a not for-profit social enterprise that aims to improve the quality of life for underserved communities.

She discusses how she has championed innovative and impactful projects for individuals with rare diseases over recent years, and highlights what more needs to be done to change the healthcare landscape for these individuals as we strive towards improving health equity for people living with rare diseases.

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-00181024 (Date of preparation: October 2024)

Hosted on Acast. See acast.com/privacy for more information.

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 changed over recent years, including the introduction of Genomic Laboratory Hubs (GLHs). This episode includes tips on what to do when you have an individual presenting with symptoms of unknown origin, and when/how to contact genetic counsellors.

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-00201024 (Date of preparation: October 2024)

Hosted on Acast. See acast.com/privacy for more information.