About the course

Step into the world of Rare Diseases with our immersive course tailored for Foundation Doctors. Guided by experts in the field and accounts from a Patient Expert with Fabry, this programme supports you to increase your understanding and knowledge of Rare Disease and aims to equip you with some tools to support patients who have a Rare Disease, from their time of presentation, through diagnosis and throughout the rest of their lives. 

Duration: 1 hour

Dates: August, 2024

Unlock the Essentials of Rare Disease in Medical Education!

Are you a Foundation Doctor keen to deepen your understanding of Rare Diseases and their unique challenges? Join our specialised course designed to equip you with essential skills for diagnosing and managing Rare Diseases.

Course Objectives:

  • Define a Rare Disease: Understand what constitutes a rare disease and state the total prevalence of Rare Disease.

  • Appreciate the Collective Commonality: Recognise that while Rare Diseases are individually rare, they are collectively common and represent a significant UK health priority.

  • Understand the Unique and Collective Experiences: Acknowledge that people living with Rare Diseases share common experiences but also have unique profiles of needs.

  • Recognise the Diagnostic Odyssey: Identify common aspects and challenges faced during the diagnostic journey of rare diseases.

  • Describe Living Challenges: Outline the common challenges individuals face living with a rare condition, through direct accounts from a Patient Expert. 

Join Us Today!

Elevate your understanding of Rare Diseases and become a proficient practitioner in this specialised field. Enrol now to embark on a transformative learning journey that will enable you to support those with a Rare Disease to the best of your abilities.

Join Us Today!

Elevate your understanding of Rare Diseases and become a proficient practitioner in this specialised field. Enrol now to embark on a transformative learning journey that will enable you to support those with a Rare Disease to the best of your abilities.

Instructors

Dr Duncan Cole

I am a Clinical Reader in the Centre for Medical Education in the School of Medicine and an Honorary Consultant in Metabolic Medicine. I am one of two Directors for the MB BCh programme, with responsibility for curriculum and innovation. I have interests in curriculum development, clinical reasoning and clinical decision making, and in technology-enhanced learning. My work in these areas was recognised when I won the Rising Star award at the national BMA Cymru Wales Clinical Teacher of the Year awards in 2015. My clinical interests are in adult inherited metabolic disease (IMD), where I am the clinical lead for the All Wales IMD service. The All Wales IMD service is nationally comissioned and cares for both children and adults; I lead specifically for the adult services. We provide care for people with lysosomal storage disease and are the only in centre in Wales that provides enzyme replacement therapy. The service has expanded significantly under my leadership, and hosts teams based in south and north Wales, providing services across all IMDs. Our unit is also a centre for the National Acute Porphyria Service, commissioned through NHS England. We host both clinical and laboratory services, including the Wales Newborn Screening Laboratory, and have a growing research base.

Dr Lucy McKay

Doctor, Chief Executive Officer for Medics 4 Rare Diseases