On 12 October 2016 we attended the National Institute for Health Research (NIHR) Rare Diseases Patient Day in London.

The day was made up of talks by speakers who specialised in improving research into rare diseases and interactive sessions for attendees. The day had a patient focus and a wide variety of attendees; from patients suffering from extremely rare diseases and family members to charities and researchers in the field. We had our own stand to highlight all our new information about primary bone cancer (including the rarer forms and non-cancerous tumours).


Professor John Bradley: ‘Rare Disease and the Future’

Prof John Bradley is the Director of Research at Cambridge University Hospitals and a Consultant Renal Physician. He spoke to the audience regarding the future of research into rare diseases. He told us at over 3 million people have a rare disease in the UK alone, emphasising the importance of improved research strategies in this area. He finished his talk by discussing the 5 key requirements for a special and collaborative effort to manage the care of patients with rare diseases, these included:

  • Empowering patients who are affected by rare diseases
  • Identifying and working towards preventing rare diseases
  • Working towards earlier diagnosis
  • Co-ordinating the care of patients
  • Increasing research into this area

Professor Bradley also spoke to us about the NIHR efforts into improving research. They have developed a ‘NIHR BioResource for Rare Diseases’, which recruits patients in over 40 NHS organisations. Participants on this BioResource volunteer to provide a sample of their blood, saliva or tissue to aid research. The participants are affected by uncommon diseases and are recruited to a specific study into that disease to determine the cause and genetics in order to improve diagnosis, prevent delayed or misdiagnosis and enable future studies to focus on developing treatments.

Professor William H Ouwehand: ‘The Diagnostic Odyssesy: What can we do about it?’

Professor Ouwehand is a Professor of Experimental Haematology at Cambridge University and is a Director of the NIHR BioResource for Rare Diseases, overviewing the team of 35 staff. His talk discussed the importance of the ‘100,000 Genome Project’ in supporting diagnosis and research. The 100,000 genome project involves the whole genome sequencing* of 15,000 patients to determine the genetic alterations and mechanism behind their disease. Prof Ouewhand explained the benefits of this project in:

  • Supporting better diagnosis and treatments for rare diseases
  • Enabling medical research to understand the genetic cause of rare diseases
  • Educating the NHS workforce about genome sequencing and its importance

*Note: ‘Whole Genome Sequencing’ is a laboratory techniques used to work out the complete DNA sequence of the patient and therefore detect all disease-related genetic alterations.


Patient Information Leaflets/Sheets:

This session was held by Carolyn Read, who specialises in the ethics of medical research and particularly the use of data in research. The session was useful for the patient audience to inform them of what will be involved if they were to take part in a research study and provided information on how to construct a ‘patient information sheet’ that will be read by the patient before they decide to consent to taking part in a research study.

Carolyn showed and explained examples of good and bad patient information sheets, explained the reasoning behind covering risks, benefits and the expectations of patients. She mentioned points which are often overlooked on such information sheets, such as the cost-implications for the patient, the long term commitment in terms of follow-up and the need to explain these points is detail in order for it to be clear to a lay, patient, audience.

Running a Successful Patient Group:

This group was for patients suffering from a rare disease and wishing to start up their own support group, be that on Facebook or as a small charity. It emphasised the need for contacting medical experts, reaching the whole community and how to make the most out of social media.

It was interesting to hear the barriers that patients face to find support and other people in their position. The session was run by two former patients who launched their own patient groups after finding no support of their own in the UK.

Eva Bearryman, from EURODIS, also spoke in this session as an expert in communications to provide some tips. EURODIS is ‘the European Organisation for Rare Diseases’. http://www.eurordis.org/

Ethics Committees:

This session was run by Dr Hugh Davies, a Research Ethics Advisor to the HRA, to provide patients and the audience with information on the ethical issues of research. This session was useful to anybody wishing to join an ethics committee or to understand more about how research studies are approved.