Fifth meeting of the EUCERD moves rare disease actions forward in key areas
The fifth meeting of the European Union Committee of Experts on Rare Diseases (EUCERD) took place in Luxembourg from 20-21 June 2012 with many important issues on the agenda. The Clinical Added Value of Orphan Medicinal Products - Information Flow (CAVOMP-IF) took centre stage with unanimous agreement to adopt the EUCERD recommendations by written procedure following minor modifications that arose from discussion during the meeting. This latest EUCERD Recommendation is the result of several years of effort and input from key stakeholders from the EUCERD, the European Medicines Agency, the European Commission and the EUnetHTA. The CAVOMP Information Flow is a process for the exchange of knowledge between Member States and European Authorities to help improve informed decisions based on the clinical added value of orphan medicinal products. The EUCERD recommendation highlights the fact that the life cycle of an orphan medicinal product is a continuum of evidence generation, necessary to assessors and decision makers, as well as being necessary to improve the good use of medicines. Other important issues were addressed, including the Cross-Border Healthcare directive and the European Reference Networks (ERNs). The EUCERD is developing recommendations for the ERNs, to be finalised later this year. Other key topics included the EUCERD Joint Action work plan, an update of the situation for rare diseases in international nomenclatures, the revision of the World Health Organization’s International Classification of Diseases, and the upcoming workshop of cross-referencing terminologies. There was also discussion on the potential for sharing knowledge on newborn screening practices, the evolution of the International Rare Disease Research Consortium (IRDiRC), and the European Commission’s Health for Growth Programme (2014-2020). A report from the EUCERD’s fifth meeting will be forthcoming.
In Ireland, the Health Service Executive National Advocacy Unit is supporting the Department of Health in its initiative to develop a national rare disease plan. The patient-centred policy framework will encompass actions targeting the prevention, detection and treatment of rare diseases based on the principles of quality care and equity. The policy will operate over a five-year period and define priority actions, subject to resource availability, in the areas of centres of expertise, orphan drugs and technologies, research and information and patient empowerment and support. A National Steering Group, established by the Health Ministry, is inviting stakeholders to participate in a consultation process designed to gather views concerning the plan's various components. 
In December 2011, Pro Rare Austria, an umbrella group for rare disease patient organisations was established. Instigated by Dr. Rainer Riedl, spokesman for epidermolysis bullosa patient organisation DEBRA Austria, Pro Rare Austria gathers Austria’s individual rare disease patient associations into a coalition that can coordinate efforts to work together on behalf of rare disease patients in the country. In the short time since its formation, the Pro Rare Austria team has already organised events for Rare Disease Day 2012 in Vienna and participated in other rare disease events. 
In Spain, the Centre for Biomedical Network Research on Rare Diseases (CIBERER) and the National Center for Genome Analysis are collaborating in the massive sequencing and analysis of 116 exomes corresponding to 24 rare diseases and/or groups of pathologies, including mitochondrial, hereditary metabolic, neuromuscular, and sensorineural hearing loss disorders, in a bid to uncover the genetic cause of the conditions. Identification of the genetic basis for these diseases could open new diagnostic pathways. It is anticipated that the study will lead to the identification of the genetic defect in at least 50% of the cases studied. 
In France, the National Cancer Institute (INCa) coordinates the country’s effort to prevent, identify and treat cancer. INCa’s overarching objectives include the development of expertise in the field of cancer, and the provision of scientific planning, evaluation and funding for projects. INCa has published two new reports on genetic testing and treatment for hereditary cancers. The first report summarises the 2010 activities of France’s oncogenetic platforms. The second report focuses on molecular genetic testing for targeted therapies in France in 2011. 
An Opinion piece published in the Hindu, a widely-read English-language Indian newspaper makes a plea on behalf of the country’s rare disease patients, of whom there could be more than 70 million, based on current global estimates. The article demonstrates a burgeoning awareness for rare diseases in the populous country. Acknowledging that more demanding health issues render the government’s attention to rare diseases virtually non-existent, the author calls on scientists, health professionals, the pharmaceutical industry and non-governmental organisations, including disease support groups, to pool resources in order to raise awareness of the struggles rare disease patients and their families face in India. While Rare Disease Day, celebrated the last day in February, has succeeded in bringing attention to the rare disease cause in urban areas, it has made no impact in rural areas. According to the author of the Hindu article, who is the founder of the non-profit Foundation for Research on Rare Diseases and Disorders and its knowledge-based resource Rare Diseases India (
