About this event

  • Date and time Wed 20 Feb 2019 from 12:30pm to 5:30pm
  • Location Royal Society of Medicine
  • Organised by Medical Genetics

This is an RSM and Medics 4 Rare Diseases joint event where clinicians at all stages of their training, will be informed about why rare diseases are important to everyday medicine.

Delegates will get the opportunity to explore how generalists can approach patients with rare diseases, and become advocates for them. Hear a real patient experience, who has 2 rare diseases - one of which was diagnosed during an OSCE. And learn about the role genomics plays in everyday medicine.

Topics include:

  • How rare diseases are relevant to every doctor’s career in medicine
  • The challenges shared by patients with rare diseases and explore how doctors can help them with these
  • The role of genomics in everyday medicine
  • How the work of Medics 4 Rare Diseases and the RSM Genetics Section play a role in rare disease education

Key speakers

Dr Ellen Thomas

Dr Ellen Thomas, Clinical Lead for NHS Genomic Medicine, Genomics England and Locum Consultant in Genomic Medicine at Imperial College NHS Trust

Agenda

View the programme

Registration, tea and coffee
Welcome by Medics4RareDiseases

Dr Lucy McKay

Rare diseases in general practice

Dr Will Evans, Clinical Practice GP,Leeds, Academic GP, University of Nottingham and Chairman of NP-UK

Diagnosed during an OSCE - a patient perspective on being rare

Dan Jeffries, Rare Disease Patient, Author of “Me, Myself & Eye” and Volunteer Ambassador, The Pituitary Foundation and Trustee of M4RD

Tea and coffee break
The role of genomic in mainstream medicine

Dr Ellen Thomas, Clinical Lead for NHS Genomic Medicine, Genomics England and Locum Consultant in Genomic Medicine at Imperial College NHS Trust

Medical student winner of Student Voice Essay 2018
Lightening talks: Do you hear me?

Nicola Miller, Co-Founder of Teddington Trust and Rare Revolution Magazine and a RARE Mum

Lightening talks: Clinical pattern matching for rare diseases

Dr Rudy Benfredj

Lightening talks: Living with a rare disease, from a parent perspective

To be announced

Questions and Answers
Close of meeting

Location

Royal Society of Medicine, 1 Wimpole St, Marylebone, London, W1G 0AE, United Kingdom

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