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 unique conference, Dr Richard Scott, Clinical Lead for Rare Disease at Genomics England, will talk you through the application of new genetic technology to facilitate diagnosis and the use of genomics in everyday medicine.

Ms Sarah Lippett, author of "A Puff Of Smoke: Growing up with an undiagnosed illness", will share her experience as a patient living with a rare disease and the path to diagnosis, and renowned 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

"This conference will empower me to consider rare diseases in the future when making a diagnosis, and not shy away from them because of a lack of understanding or knowledge of the specific disease." 
- Feedback from 2019 Delegate 

"It was a fantastic day and I couldn’t fault any of the speakers. It’s rare that in a one day training course all content is engaging yet this event definitely managed it!" - Feedback from 2019 Delegate

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


We would like to thank our sponsors:

Alexion, Sanofi and Sobi
Please note that none of the companies listed have had any influence or involvement over the agenda, content or organisation of this meeting.

Key speakers

Dr Richard Scott

Dr Richard Scott

Clinical Lead for Rare Disease at Genomics England and Consultant in Clinical Genetics at Great Ormond Street Hospital

Speaker's biography

Dr Richard Scott will talk us through the application of new genetic technology in order to reduce the long and arduous journey that many patients have to face before receiving a diagnosis.

Sarah Lippett

Sarah Lippett

Artist, author and lecturer.

Speaker's biography

Sarah Lippett will share her experience of living for 11 years with an undiagnosed condition as beautifully illustrated in her graphic novel, A Puff of Smoke. She will also be exhibiting excerpts of her memoir, alongside photos and her medical documentation to help delegates further understand the patient journey. 

Dr Will Evans

Dr Will Evans

Will is a GP in Leeds, a National Institute for Health Research Practice Fellow at the University of Nottingham and Chair of Niemann Pick Disease Group

Speaker's biography

Dr Will Evans will explore how generalists can approach patients with rare diseases and how to become advocates for them.

Dr Rick Thomson

Dr Rick Thompson

Chief Executive Officer at Findacure

Speaker's biography

Dr Rick Thompson will highlight the role that drug repurposing can play in lowering the cost and accelerating the development of rare disease treatments.


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 for Children NHS Foundation Trust and Genomics England

Medical student winner of Student Voice Essay 2018

Ms Anna-Lucia Koerling, University of Cambridge

The future of drug repurposing for rare diseases

Dr Rick Thompson, Chief Executive Officer, Findacure

How the lived experience improves clinical practice in rare disease

Dr Alexandra Downes and Mrs Karen Harrison, Support Services Manager, Alex The Leukodystrophy Charity

Questions and answers
Close of meeting
Drinks reception


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