EBMT NEWSLETTER | March 2016 | Volume 51 - Issue 2

Important dates
2016 marks nine consecutive, successful years of Rare Disease Day.
Nearly 7,000 different rare diseases have been identified to date, directly affecting the daily life of more than 30 million people in Europe alone. The overall objective of this important day is to raise awareness amongst the general public about rare diseases and their impact on patients’ lives. At the European Union level, the objective is to raise awareness amongst EU institutions in order to make rare diseases a priority in EU public health and research agendas and budgets.
The EBMT works on a broad diversity of blood disorders and non-blood disorders or diseases, which can be treated with haematopoetic stem cell transplantation (HSCT) and / or cellular therapy. The EBMT has a genuine interest in rare diseases and aims at gaining a better scientific knowledge on the pathogenesis, the diagnosis and management of these illnesses with the ultimate goal to improve patients’ lives suffering from rare blood disorders.
On the occasion of the 9th Rare Disease Day, Denis Costello from Eurordis, the association that coordinates annually this special day, interviewed Dr. Andrew Gennery from the Paediatric Immunobiology Department of the Great North Children's Hospital in Newcastle and Chair of the EBMT Inborn Errors Working Party.


Denis Costello (DC): With Rare Disease Day now in it's 9th year and an ever growing international awareness of the problems faced by the rare disease community as a whole have you seen an increased appreciation in the value of your work (from funders, policy-makers etc)?
Andrew Gennery (AG): Yes, we have. Rare diseases now have a profile, and there is a greater awareness of them. There are now funding calls targeting rare diseases, and some exposure on media outlets.
DC: EBMT has long understood the value of scientific collaboration. Based on your experience how do you think that initiatives such "European Reference Networks" for Rare Disease can solve the problems associated with fragmentation of expertise and the traditional barriers to collaboration which have long been one of the key issues slowing progress in rare disease research?
AG: I would hesitate to suggest that the problems will be 'solved'! But, the key to success with this discovery of rare diseases, and the best treatment options is collaboration. In fact - the Inborn Errors Working Party of EBMT is a good model for this. For over 40 years across Europe, we have been pooling our knowledge, expertise, resources and knowledge in rare primary immunodeficiencies, and subsequently have been able to significantly enhance the field. ERNs will encourage specialists to come together and exchange knowledge and experience in rare diseases in ways that single centres (even centres of excellence) are unable to do alone. I expect such sharing of expertise to have a positive impact.
DC: EURORDIS has since it's inception been a champion of the value of patient-generated knowledge and of the role of patient-experts in the clinical-development and regulatory dynamics.  EURORDIS Summer School and more recently the European Patient Academy EUPATI are initiatives which aim to build the capacity of patients to bring further patient-centricy to all stakeholders involved in improving the lives of patients. How is EBMT best placed to work with patients to incorporate the value of this knowledge?
AG: EBMT has a long history of patient engagement - most visibly in the patient and donor day which is an integral part of the EBMT Annual Meeting. This brings patients, families, scientists and clinicians together in the same place enabling exchange of knowledge and views, and allowing patient experience to shape our future direction, but importantly, giving patients access to the leading experts in the field, so that knowledge can pass freely between patient-specialist partnerships.
DC: How would you currently appraise the situation of access to innovative medicines in your country, or indeed across the EU, for patients living with rare diseases in your clinical area?
AG: I am lucky - in the UK, patients generally have access to the cutting edge treatments needed in rare diseases. Across the EU, that is not always the case - in some countries, expertise is not always available, and it can be difficult for patients or specialists to access the appropriate knowledge or healthcare required.
DC: As you may know one of the most characteristic issues facing people living with any rare disease remains the lengthy diagnosis time associated with it.  Have you seen any signs for hope in the recent past?  and given that one of the aims of initiatives such as the International Rare Diseases Research Consortium is that by 2020 there be a means to diagnose most rare diseases what future prospects do you see in the area of diagnosis?
AG: There are two issues here - one is the experience of the clinician to recognise that there might be a rare disease that is presenting, and the second is having access to appropriate diagnostic techniques. New methods of sequencing the human genome have revolutionised the amount of information gained - enabling diagnosis of patients with hitherto undescribed diseases, or the recognition of patients with a previously identified genetic defect presenting in an atypical way. Although there remain problems in interpreting the vast amounts of information generated by these new techniques, progress is being made in this area. So, it is now important to ensure that specialists across Europe have access to knowledge networks, so that atypical, rare or difficult cases can be discussed with international experts who may have more experience, so improving healthcare for patients with rare diseases throughout Europe.
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