About this event

  • Date and time Wed 19 Feb 2020 from 12:30pm to 6:00pm
  • Location Royal Society of Medicine
  • Organised by Medical Genetics, Medics 4 Rare Diseases

Medics 4 Rare Diseases and the RSM will bring together a faculty of top speakers to explore how rare diseases are relevant in everyday clinical medicine.

With over 7000 rare diseases, medical education in this area presents a major challenge. A hand-full of rare conditions may be included in specialty-specific education however broader coverage of 'rare disease' is minimal. This is despite 3.5 million people in the UK living with a rare disease - making rare diseases collectively common. This is the only meeting of its kind specifically targeting medical professionals to teach them about the broad concepts of rare disease and offering pragmatic advice about how to diagnose and manage rare diseases in everyday medicine.

At this conference, a patient living with a rare condition will share her experiences and clinicians will give delegates an understanding of the role of the generalist doctor in rare diseases.

Learning objectives:

  • Rare diseases in primary care
  • Genomics in mainstream medicine
  • A Puff of Smoke - growing up with an undiagnosed rare condition
  • Drug repurposing in rare diseases
  • The role of advocates in supporting patients and doctors

Join in the conversation online using #M4RD2020
Follow us on Twitter: @RoySocMed and @M4RareDiseases


Early bird pricing available until 08 January 2020.


RSM Trainee RSM Student
£35.00 £20.00

Non - Member

Trainee Student
£50.00 £30.00


View the programme

Registration, tea and coffee
Welcome and introduction

Dr Lucy McKay, Chief Executive Officer, Medics for Rare Diseases

Rare diseases in general practice

Dr Will Evans, GP Oakwood surgery Leeds, National Institute for Health Research, Practice Fellow, University of Nottingham and Chairman Niemann Pick Disease Group

A Puff Of Smoke: Growing up with an undiagnosed illness

Ms Sarah Lippett, Artist, Author and Lecturer

Tea and coffee break
Reducing the diagnostic odyssey in rare diseases

Dr Richard Scott, Clinical Lead for Rare Disease, Great Ormond Street Hospital and Genomics England

Medical student winner of Student Voice Essay 2018
Drug repurposing in rare diseases

Dr Rick Thompson, Cheif Executive Officer, Findacure

How to be a rare advocate/ally

Dr Claire Garthwaite

Questions and answers
Close of meeting
Drinks reception


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