2nd National Action Plan For Rare Diseases of the 10 year Czech National strategy
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.
In the National Action Plan for Rare Diseases for the period 2015-2017 (NAP2) emphasis is especially placed on the support of early identification and diagnosis, on the further centralisation of care for rare disease patients, the unification and development of data collection and the creation of standards of care for patients with rare diseases, as well as on the improvement of awareness and education in rare diseases on continuity with the already established foreign cooperation and on establishing new contacts, and on the connecting Czech rare disease centres with common European databases and registers aggregating clinical and laboratory data. An emphasis is also placed towards joining international rare disease research projects (such as E-rare2 and/or Horizon 2020 funding schemes), domestic research projects as part of the Agency for Healthcare Research and the development of cross-border diagnostic and medical care in accordance with the provisions of the Directive on Patients' Rights in Cross-Border Care, which was transposed into Czech legislation in 2014.
The strategy also includes plans for the establishment of centres for home care, social subsidised hospital beds, respite centres and rehabilitation facilities, and the expansion of long-term care beds with trained personnel and special equipment to improve the quality of life and social inclusion of rare disease patients. The strategy also asks for attention to be placed toward effective and timely pharmacotherapy of rare disease following internationally-accepted standards and recommended approaches, and increasing the education and awareness on RD issues among the medical professionals and the public at large.
Read the 2nd Czech National Action Plan
Sant Joan de Déu-Barcelona Children's Hospital, in Barcelona, Spain has launched a Paediatric Institute for Rare Diseases (IPER) which will offer unified medical care for patients with rare diseases. The aim of IPER is also to obtain a quick diagnosis for the children who do not currently have a diagnosis. IPER will concentrate its efforts on translational research into diagnosis and treatment of rare diseases as soon as possible. One of the leading IPER tools is RareCommons, a 2.0 platform which connects patients and researchers to work together in the research. This new Institute is managed by Francesc Palau, who is currently the Scientific Director at the Centre for Biomedical Network Research on Rare Diseases (CIBERER).
The latest recommendations from the UK Genetic Testing Network (UKGTN) on new genetic tests for which NHS funding should be made available are open for public consultation. The proposed new genetic tests would be used within specialised or highly specialised clinical services, and the UKGTN’s view is that funding these tests would lead to cost savings for the NHS, thanks in part to reduced costs of testing thanks to next-generation sequencing (NGS) technologies, but also to avoiding the need for additional diagnostic tests and making it easier to identify affected family members. The consultation is part of a wider 30 day NHS England public consultation into proposed new products, specifications and clinical commissioning policies for specialised services.
According to a press release by KANKO (Cancer Coalition of Turkey), a prolonged lobbying and follow up efforts by them resulted in the increased access of oncological orphan drugs in Turkey. The change in regulations will mean that patients can overcome the barrier of access to orphan drugs. KANCOs previous efforts have lead to the reimbursement of all orphan drugs, regardless of their market authorisation status. Thus, a pharmaco-economic analysis does not have to be presented to the Social Security Institution (Sosyal Güvenlik Kurumu) for reimbursement decisions on orphan drugs. Until now the law and the regulations only permitted that orphan drugs are imported and distributed through the Turkish Pharmacists’ Association—Türk Eczaclar Birlii (following The Turkish Medicines and Medical Device Agency—Türkiye ilaç ve Tbbi Cihaz Kurumu (TITCK) approval of this drug). The pricing is controlled by Turkish Social Security Institution (SGK) which is reimbursing Agency and updates pricing every 6 months. Although there is still a problem with the commercial distribution monopoly and the extended waiting periods to access orphan drugs and this is now almost resolved. The modified regulations will allow orphan drugs to be imported and distributed by private agencies with accreditation.
The Indian Organization for Rare Diseases held a conference in March this year to raise awareness on rare diseases at all levels and especially at the governmental level. The conference commenced with the presentation of a white paper on rare diseases to the former president of India, Dr. APJ Abdul Kalam, who also inaugurated the conference and acknowledged the need to coordinate efforts on rare disease at national level. Several rare disease stakeholders, represented by patients in the first place, attended the conference, including pharmaceutical companies. 
An article published in the Contemporary Clinical Trials presents the manner in which NIH/NCATS GRDR programme serves as a central web-based global data repository and the development of a set of Common Data Elements (CDEs), which are controlled terminologies that represent collected data the use of which facilitates the integration of patient information. The article reviews the programme which integrates de-identified patient clinical data from rare disease registries, EHR, clinical data and other data sources, in a standardised manner, to be available to researchers for conducting various biomedical studies, including clinical trials and to support analyses within and across diseases. 
