About this event

  • Date and time Wed 24 Feb 2021 from 6:00pm to 8:00pm
  • Location Online
  • Organised by Medical Genetics, Medics4RareDiseases (M4RD)

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

This online meeting is the only one 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 them in everyday medicine. Broader coverage of rare diseases is minimal. This is despite 3.5 million people in the UK living with a rare disease - making rare diseases collectively common. The rare disease and genomic field is changing rapidly and continuing medical education is desperately needed in order to make full use of new innovation and therapies. 

At this unique meeting, we will hear from patients and advocates as well as doctors in order to inclusively hear from all perspectives of the rare disease specialty.

Learning objectives:

  • Understand that rare diseases are collectively common
  • Appreciate the common challenges that people with rare disease face in the journey to diagnosis and beyond
  • Value the lived experience that expert patients can share with you in order to improve their care
  • Promote the work of M4RD and the role of the Medical Genetics Section

This activity is supported by sponsorship and grants to Medics4RareDiseases (M4RD) from Alexion, Amicus Therapeutics, BioMarin, Bionical Emas, Freeline Therapeutics Limited, Sarepta. M4RD works independently from any funders and these companies have no editorial control over the content of this or any other activities.

We would like to thank our sponsor Takeda for their support of this webinar. Please note that the scientific programme and content has not been influenced in any way by sponsor. The I am number 17 campaign is initiated and funded by Takeda UK. Takeda UK have provided materials and input into the I am number 17 campaign session of this Webinar in the form of a Takeda UK speaker on the panel, campaign social media content and presentation video.

Join in the conversation online using #M4RD2021
Follow us on Twitter: @RoySocMed and @M4RareDiseases

The Royal Society of Medicine needs your support 
The RSM is offering this webinar at no charge to delegates, in order to help healthcare professionals to easily access COVID-19 related education material & resources during the pandemic. However, we are asking people to support the RSM in these unprecedented times. Now more than everas a charity we need your help to continue our work and mission in advancing healthcare through innovation and education. Please consider making a donation  for joining this webinar. Thank you for your generosity. 

Key speakers

Dr Gareth Baynam

Clinical Geneticist, Genetic Services of Western Australia

Speaker's biography

Dr Gareth Baynam is a clinical geneticist working in Western Australia with a long-standing commitment to improved Indigenous health care. Dr Baynam works to develop and deliver genetic health care in partnership with Aboriginal health leaders and the community.  Among current activities, Dr Baynam is a practising Clinical Geneticist, a Clinical Genomics Policy Advisor at WA Health, Director of the Undiagnosed Diseases Program, a co-director of genetic and rare diseases research at the Telethon Kids Institute, and a member of the International Scientific Advisory Board of the new pan-European Union genomic and multi-omic initiative for rare diseases (Solve-RD).

Georgina Morton

Chairperson, ArchAngel MLD Trust

Speaker's biography

Georgina Morton spent almost 20 years as a Television Producer, specialising in producing high-profile ‘celebrity’ interviews for talk shows and awards shows such as ‘Parkinson’ and the BAFTA Awards. However, her life and career changed dramatically in 2013 when her daughter Ava was diagnosed with a rare lysosomal storage disorder, Metachromatic Leukodystrophy. In 2014 Ava was accepted onto a clinical trial of Gene Therapy for MLD and the experience led Georgina to form a charity, ArchAngel MLD Trust. ArchAngel supports medical teams working on treatments for MLD, awards grants to UK MLD families and is spearheading a campaign to have all UK babies screened for MLD (and other rare diseases) at birth.

Professor Bobby Gaspar

Honorary Clinical Professor, Great Ormond Street Hospital and the UCL Institute of Child Health

Speaker's biography

Professor Bobby Gaspar is a world-renowned scientist and physician and accomplished strategic and organizational leader with more than 25 years of experience in medicine and biotechnology. As one of Orchard Therapeutics’ principal scientific founders, Bobby serves as Chief Executive Officer of the company and also sits on Orchard’s Board of Directors. Bobby has been a pioneer in gene therapy and the evolution of hematopoietic stem cell (HSC) technology – including some of the first studies in patients with severe combined immunodeficiency (SCID) – bringing it from some of the first studies in patients to potential regulatory approvals. His unparalleled expertise and deep relationships with key physicians and treatment centers around the world are integral to Orchard’s efforts to identify patients with metachromatic leukodystrophy (MLD) and other diseases through targeted disease education, early diagnosis and comprehensive newborn screening.

Bobby is also an Honorary Professor of paediatrics and immunology at the UCL Great Ormond Street Institute of Child Health and has led multiple clinical trials that have shown that gene therapy can successfully correct the genetic defect in immune deficiencies. He studied medicine and surgery at Kings College in London before completing his Ph.D. at the UCL Institute of Child Health.

David Rose


Speaker's biography

David has been speaking on living with an ultra-rare disease for several years. He has an ultra-rare disease called Occipital Horn Syndrome. He has been working for the rare disease magazine – Rare Revolution Magazine – for the last 2 and a half years. He is also a trustee for Mitrofanoff Support.


View the programme here

Welcome and introduction

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

Rare disease 101

Dr Lucy McKay

Undiagnosed Diseases Program

Dr Gareth Baynam, Clinical Geneticist, Genetic Services of Western Australia

Shortening the diagnostic odyssey through newborn screening

Georgina Morton, Chairperson, ArchAngel MLD Trust

Harnessing the power of gene therapy after diagnosis

Professor Bobby Gaspar, Honorary Clinical Professor, Great Ormond Street Hospital and the UCL Institute of Child Health.

Panel discussion
I am Number 17 Campaign

David Rose, Patient and Abigail Epstein, Patient Advocacy and Communications Manager, Takeda UK

The I am number 17 campaign is initiated and funded by Takeda UK. Takeda UK have provided materials and input into the I am number 17 campaign session of this Webinar in the form of a Takeda UK speaker on the panel, campaign social media content and presentation video.

Winner of Student Voice Prize 2020

Catriona Chaplin, Medical Student, Barts and the London School of Medicine and Dentistry

Panel discussion
Close of meeting




*Registration for this webinar will close 2 hours prior to the start time. You will receive the webinar link 2 hours before the meeting. Late registrations will not be accepted. 

Webinar recordings will be available for registered delegates up to 30 days after the live webinar, via Zoom. The link will be sent 24 hours after the webinar takes place. 

This webinar will be recorded and stored by the Royal Society of Medicine and may be distributed in future on various internet channels.  

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