Czech National Rare Disease Plan 2012-2014 officially adopted!
On 9 June, 2009, the European Council adopted the Recommendation on an Action in the Field of Rare Diseases, calling on each European Union (EU) Member State (MS) to elaborate and adopt a strategy for their rare disease patients by the end of 2013. The Council Recommendation defines seven strategic areas for rare disease care, of which the first - Plans and strategies in the field of rare diseases – urges the MS to develop actions that encompass the elements of the following strategic areas: Adequate definition, codification and inventorying of rare diseases; Research; Centres of expertise and European reference networks; Gathering expertise on rare diseases at European level; Empowerment of patient organisations; and Sustainability.
A ten-year Czech National Strategy for Rare Diseases was approved by the Czech government in 2010 for the country's rare disease patients, estimated to be roughly 20,000 out of 10.5 million habitants. The Czech strategy outlines existing efforts and proposes major targets and measures for improving the situation in the Czech Republic, to be subsequently specified in more detail in the context of a three-year national action plan that establishes sub-tasks, instruments, responsibilities, dates and indicators for fulfilling individual tasks.
On 29 August, the Czech government adopted via Decree 633 the Czech National Plan for Rare Diseases for 2012-2014, which delineates actions identified in the 2010-2020 Czech National Strategy. Specific areas include: Improving information; Education; Prevention; Improving screening and diagnosis; Improving the availability and quality of care; Improving quality of life and social inclusion; Support for rare disease science and research; Unification and development of data collection and rare disease biological samples; Supporting and strengthening patient organisations; Interdepartmental and interdisciplinary collaboration; and International cooperation. Only available in Czech language for the moment, a request has been made to translate the Czech National Plan for Rare Diseases for 2012-2014 and make it available on the website of the European Commission DG Health & Consumers Public Health Rare Diseases section, which includes a section specifically for the EU national plans for rare diseases.
Health Ministers in England have announced that from April 2013 the National Institute for Health and Clinical Excellence (NICE) will take on the role of appraising drugs for ultra-rare conditions. Ultra-rare is defined as fewer than 500 patients in England, equating to a prevalence of 1 in 100 000 or fewer. This function is currently carried out by the Advisory Group for National Specialised Services. A 
Picking up on the momentum created in Europe to establish national strategies addressing the needs of rare disease patients and their caregivers, Australian stakeholders are eyeing ways to develop a plan in their country. To get the ball rolling, a symposium on the topic was held in April of last year. The outcomes of this meeting, which brought together various strands of the rare disease and orphan drug community, have been documented in a paper newly published in the Orphanet Journal of Rare Diseases. Essentially, Australia can build upon existing components in many areas, tailoring them to rare diseases. The authors call for an audit of the country’s current situation in order to identify gaps in knowledge, resources and services. 
In the Netherlands, a controversy is brewing over a leaked report from the Dutch Health Care Insurance Board (CvZ) addressed to the country’s Minister of Health concerning the reimbursement of two rare disease products deemed “too expensive”. Both products target lysosomal storage disorders: a treatment for Pompe disease with an annual price tag of between €400 000 and €700 000 and a Fabry disease treatment costing some €200 000 per year. According to various news reports, Health Minister Edith Schippers has been advised to cut public funding for the treatments, although babies diagnosed with Pompe disease would continue to have their treatment supported by State funding under the proposal. The news of the proposed funding cut has unleashed protest from stakeholders across the country and beyond. In a 
The Rare Disease Research Institute of Spain’s Instituto de Salud Carlos III has released a study identifying rare disease research and treatment resources located in the Madrid region. This document is the result of collaboration between the Autonomous Community of Madrid, the Spanish rare disease patient association foundation Feder (Fundación FEDER -Federacion Espanola de Enfermadades Raras) and pharmaceutical company Merck, which provided some funds through the FEDER Foundation to develop the study. The Council Recommendation of 2009, which calls on the EU Member States to develop a plan for their rare disease patients, includes the recommendation to identify or create and accredit centres of reference and of expertise. Spain has developed a strategy for rare diseases in the national health system. The new report does not specifically identify reference centres, but it provides the most comprehensive mapping of the rare disease research and care expertise available to date in the Madrid region. Data were gathered from hospital units, research centres, patient organisations and scientific societies. Amongst the findings, the document maps resources for 28 diseases that cause rare tumours, 62 blood diseases, 112 rare endocrinal, nutritional and/or metabolic disorders, 109 rare diseases of the central nervous system, 37 genito-urinary disorders and 168 congenital ailments. The information contained in the document can be useful for both policy makers and patients, for policy making and informational purposes. 
In the United States of America, the National Institutes of Health (NIH) has established three interrelated Centers for Mendelian Genomics. Located at the University of Washington, Yale University and Baylor-Johns Hopkins Center for Mendelian Genomics, the three centres will use the latest approaches to accelerate the identification of the genes responsible for Mendelian conditions. The centres invite the international clinical and scientific community to collaborate by submitting cases of Mendelian phenotypes that have not had a causal gene identified. 
