conference

The Unusual Suspects: An Afternoon of Rare Diseases

On the 2^nd April we held our second Rare Diseases Symposium entitled ‘The Unusual Suspect: An Afternoon of Rare Diseases’ at the prestigious Royal Society of Medicine in London. The five medical schools in London collaborated to produce this educational afternoon of 6 talks on 5 interesting rare disease topics which included:

• Dr Melita Irving – If something flies out of a tree it is more likely to be a sparrow than a goldfish: How to spot a rare diseases
• Prof Bobby Gasper – SCID: Clinical diagnosis and newborn screening
• Dr Ramaswami – Mucopolysaccaridoses (MPS)
• Dr Mansour – Primary lymphoedema
• Prof Judson and patient Graham Bound – Sarcoma

Dr Melita Irving, Consultant Clinical Geneticist as Guy’s and St Thomas’, was able to help us secure this fantastic venue as she is also the head of the genetics section at the RSM. She gave us an excellent over-view of what rare diseases are and a very useful ABCD mnemonic on spotting a rare disease. She also took us through some interesting examples that highlighted the importance of genetics in a variety of rare conditions including familial adenomatous polyposis (FAP), Lynch Syndrome and Hajdu-Cheney syndrome.

We then heard from Prof Judson, Consultant Medical Oncologist of the Royal Marsden and patient Graham Bound who shared their different expertise on the topic of sarcoma. Prof Judson took us through the mind-field of sarcoma, with over 100 different types. The key message in his talk was not that we should know everything about sarcoma but the fundamental importance of a good and thorough history and examination. Graham shared his own journey with sarcoma, in particular the bumpy road to diagnosis. This gave us an invaluable insight into the patient perspective and reminded us what fundamentally matters – providing the highest level of care for our patients.

Dr Ramaswami, Consultant in Metabolic Paediatrics at the Royal Free Hospital spoke next on the subject of mucopolysaccharidoses (MPS). She gave us some useful clinical clues to diagnose LSDs such as developmental delay, noisy breathing and joint contractures and her presentation was filled with very informative slides and pictures.

Dr Mansour, Consultant Clinical Geneticist at St George’s, told us about a topic that was completely new to me; primary lymphoedema. The talk incorporated conditions such as Turner’s, Noonan’s and Milroy’s disease. This was of particular interest to those in the audience with a passion for genetics as there is a lot of current exciting research in this field.

Finally, we heard from Prof Gasper, Professor of Paediatrics and Immunology at the Institute of Child Health. He ended the symposium with a very interactive and clinically driven talk on Severe Combined Immunodeficiency (SCID). We heard about the aetiology, presentation, diagnosis and treatment of SCID and some interesting developments in terms of screening.

The symposium was a great success with 50 people attending including students from across all 5 medical schools, some research scientists and doctors. We were able to meet and chat with the delegates at the drinks reception after the symposium and had a lot of interest from both students and doctors in the Students4RareDiseases mission. The RSM were particularly impressed with the event and have invited us to come back again next year which is terrific and will hopefully establish the Unusual Suspects as an annual event in the RSM calendar.