The 2014 European Conference on Rare Diseases & Orphan Products announces a wide-ranging and packed programme
It’s Berlin’s turn to play host to the 7th edition of the biennial European Conference on Rare Diseases & Orphan Products (8-10 May 2014) for which a packed programme was announced this month. This conference, organised by the European Organisation for Rare Diseases (EURORDIS) and DIA Europe, is the only event dedicated to providing the state-of-the-art of activities in the field of rare diseases, in areas as far ranging as research, medical and social care, and access to orphan drugs. It provides a unique forum for the rare disease community, bringing together actors from across all diseases and stakeholder groups in Europe and beyond and providing a perfect opportunity to exchange knowledge and experience.
The latest edition of this highly successful conference, which welcomes around 700 stakeholders every two years, hopes to demonstrate the importance of EU actions in the field of rare diseases and to take stock of the evolution in the field. The organisers also aim to sustain the dynamic at European level in the field by considering the future perspectives of a wide range of topics which make up the pieces of the rare diseases puzzle.
The conference programme, now available online (For further details), features parallel sessions covering the following main themes : Improving healthcare services, Knowledge generation and dissemination, Research from discovery to patients, State of the art and innovative practices in orphan products, Emerging concepts and future policies, and Beyond medical care. These sessions will provide the opportunity to share real experiences and best practices, and aim to stimulate awareness, debate and networking in an approach tailored to ensuring that everyone benefits from the lessons learned over the past two years.
The conference will be held in English and interpretation services will be provided for the Opening & Plenary Sessions (French, Spanish, German, Polish and Russian). The day before the main conference will once again be dedicated to capacity-building sessions for patient and patients’ representatives in addition to tutorials for Industry and academic participants. Plenty of networking opportunities have been integrated into the programme to ensure that participants come away with new contacts to add to their address books. Poster sessions will also provide a great opportunity for exchange of information and know-how around the main themes.
The organisers encourage all stakeholders in the rare disease community, patient representatives, policy makers, researchers, members of the Industry, payers and regulators to participate at the conference and make it a success. The programme for the conference is now available online (For further details) and registration is open (Register here).
Register now for the opportunity to be a part of this exciting event. This is the place to be for the most comprehensive and up-to-date knowledge on rare diseases and orphan products.
The Association of Medical Research Charities in the United Kingdom has made an appeal to the public to allow researchers to access the data contained in their National Health Service medical files. Patient records are currently held by general practictioners in the UK, but soon this information will be integrated into a central National Health Service database, « care.data ». The data collected will then be accessible to researchers and to pharmaceutical companies in an anonymised format. The UK’s government is in the process of sending an informative leaflet to all 22 million households in the country to explain the plans for data sharing and explaining how residents can opt out of the this scheme. Medical research charities hope that the population will be favourable to this move and are embarking on campaigns to explain the valuable resource this data represents and its importance to avances in medical science, such as the development of treatments for rare diseases. However, the public will need to be convinced that their data will remain anonymous and will not fall into the wrong hands for this enterprise to succeed. 
There are now 10 different centres for rare disorders in Norway. They cover a broad range of diagnoses and diagnostic groups. The Norwegian Ministry for Health and care services decided to organise these centres under one national service for rare disorders. In 2013, Oslo University Hospital organised a project to establish a brand new national service, which is in function from January 2014. Now there is one National Advisory Unit on Rare Disorders (NAURD) in Norway, which oversees the ten other centres. The purpose of this co- organisation is enhanced quality of services through strengthened user participation, better coordination and cooperation, better visibility, services for more rare diagnoses and greater efficiency. The new service, NAURD, is lead by Stein Are Aksnes which will also have a web-site, which will operate the Norwegian Help-Line on Rare Disorders (+47 800 41 710). For more information and links to the different Centres for Rare Disorders 
Following the success of the First Ibero-American Congress on Rare Diseases held in Brazil (
An article published in “Journal of Rare Disorders” surveyed rare disease stakeholders to understand the current experience of patients when trying to obtain a diagnosis. The authors point out attention to a recent survey which showed that it took an average of 5.6 years in the United Kingdom and 7.6 years in the United States to obtain a diagnosis for a rare disease, and that “most patients needed to provide their health care professionals (HCPs) with information on their rare disease”. In this present survey the authors analysed data from 805 patients, parents, and spouses and 367 HCPs which revealed unsurprisingly that the current state required much to be desired. Although patients validated that they were referred to other physicians by primary care providers, they unfortunately saw an average of 7.3 physicians before a diagnosis was made. The data collected suggest that referrals are not targeted correctly, or that the referred physicians are not well versed in the diagnosis of rare diseases. According to the authors, this is not surprising, “as many rare diseases are heterogeneous in nature, and the presenting symptoms in a patient may suggest referral to a certain type of physician who is not well versed in the diagnosis of that particular disease”. The authors reported that most physicians in the survey believed that it would be helpful to receive additional training in rare diseases, and patients rated the rare disease knowledge of the physician they saw at onset of symptoms as “poor” or “fair.” Finally the authors reflect that although there has been a good deal of dialogue about the need to refer patients, it appears that robust educational programs regarding targeting referrals or how to diagnose a rare disease in referred patients are also necessary.
An article appearing in this month’s European Journal of Human Genetics, publishes the results of a survey of undertaken in Italy to document the attitudes and policies of ethics committees in the management of biobanks for research purposes. The authors highlight that gaps in regulations concerning the collection and use of biobank samples necessitate the elaboration of ethical guidelines, although this exercise is rarely undertaken in Italy and other European countries. The survey results, derived from responses from 52 ethics committees, documents the approaches taken in critical areas such as : informed consent, confidentiality protection, communication of research results, ownership of samples and data, and benefit sharing. These results are intended to contribute to the understanding of the current situation in Italy, though may also be useful for the elaboration of future guidelines based on experience and real-life practice. 
