The unusual suspects: An afternoon of rare diseases


Wednesday 11 May 2016


Venue Royal Society of Medicine
1 Wimpole Street
Organised by

Medical Genetics Section



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about this event

This meeting aims to encourage medical students and trainees to develop understanding and awareness of rare conditions to reduce time to diagnoses

At the end of the meeting, medical students and trainees will be informed about rare diseases that they would not necessarily become familiar with a medical school. 
This meeting aims to:
  • Provide you with an understanding of the genetic basis of rare diseases and appreciate how studying these disorders can inform about common, complex diseases – eg osteoporosis.
  • Explore the needs of individuals affected by rare diseases.
  • Understand new and developing opportunities for providing treatments


Registrations for this meeting have now closed. Places are available on the day. 




12.45 pm

Registration, tea and coffee

1.10 pm

Welcome from Students 4 Rare Diseases

1.15 pm

New opportunities to treat rare genetic diseases

Dr Melita Irving, President Elect, Medical Genetics Section

1.45 pm

New therapies to treat achondroplasia, the most common cause of genetic dwarfism

Dr Melita Irving

2.15 pm

Hypophosphatasia: A novel treatment improves outcome and survival in a severe, rare bone disorder

Dr Moira Cheung, Consultant in Paediatric Endocrinology, Evelina London Children’s Hospital

3.00 pm

Tea and coffee break

3.45 pm

Inherited skin diseases: Discovery and recovery

Professor John McGrath, Professor of Molecular Dermatology, St John’s Institute of Dermatology, Kings College London

4.15 pm

The Niemann Pick Diseases: An example of how to develop treatments in rare metabolic disorders

Dr Robin Lachmann, Consultant in Metabolic Medicine, National Hospital for Neurology and Neurosurgery

5.00 pm

Niemann Pick from a parent’s perspective

Ms Helen Carter

5.30 pm

Completion of evaluation forms

5.35 pm

Close of meeting

5.40 pm

Wine reception and networking

register for this event

  • Registrations for this meeting have now closed.
  • Places are available on the day.


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organiser's details

For information on this event, contact Kathryn StokesTel: 02072903940 Email: arrow