2014, a dynamic year for rare disease stakeholders
With the new year comes new beginnings, resolutions and wishes for the future, but this time also offers the opportunity to review the previous year's achievements. 2014 was a busy and fruitful year for the rare disease community, with the help of a number of young people in the world, and the 2014 European Conference on Rare Diseases in Berlin. Orphan Products and the International Rare Disease Research Consortium's second conference in Shenzhen.
2014 saw the first meeting of the European Expert Group on Rare Diseases , which replaced the European Union Committee of Experts on Rare Diseases . This multi-stakeholder group, has a mandate to assist the Commission with the development and implementation of rare disease policies. The Commission describes its future priorities for the field of rare diseases in its implementation report , published in Autumn 2014, which took stock of the following achievements of the Communication Commission : Rare Diseases Europe's Challenge (2008) and the Council Recommendation on the field of rare diseases (2009).In particular, the report highlighted the adoption of 16 national plans / strategies in the United States by the December 2013 deadline: 4 additional plans were adopted in 2014 making the total 20 to date. The report concludes with a list of actions envisaged in the future by the European Commission, which includes the intention to maintain the EU's coordinative role in the development of European policy on rare diseases and national support, including plans and strategies for rare diseases . In addition, the Commission wishes to continue supporting the IRDiRC and initiatives under the umbrella and to play a role in collaboration with important international stakeholders in the field of rare diseases. Support to ensure proper classification of rare diseases has also been cited as a priority for increasing awareness of rare diseases and patient empowerment. Finally, the Commission highlighted that much work would beDirective on cross-border healthcare for the development of tools for facilitating the co-operation and interoperability of European Reference Networks for rare diseases.
The Expert Group on Rare Diseases will provide support to the European Commission in the implementation of these goals. The Expert Group puts in place three times in 2014 and adopts the first recommendation to improve the treatment of rare diseases, which is an important step forward in ensuring that rare diseases are made visible in health information systems through the use of Orphacodes where no appropriate code exists in current coding systems. Next steps to ensuring a coherent and integrated strategy in the field of rare diseases will be pursued by the future Joint Action for Rare Diseases to start in 2015 which will support rare disease activities at European level, including Orphanet and the activities of the Expert Group.
The Expert Group was supported in its endeavors in 2014 by the EUCERD Joint Action through a range of expert workshops were organized on the subject of quality of care for rare diseases and centers of expertise, European Reference Networks, national plans / strategies for rare diseases , trans-border genetic testing, evaluation of rare disease and Orphacodes. National Five conferences Were Co-Organized by Eurordis and National Alliances of Rare disease patient Throughout Europe in organizations the scope of the Joint Action with the aim of Promoting the elaboration and implementation of National Plans / Strategies for uncommon diseases ( consult the available conference overs ) .
At the European level, 2014 also saw the launch of the a much anticipated ontology of rare disases which represents an all-inclusive and singular resource point for the ontological analysis of rare diseases. The Orphanet Rare Disease Ontology (ORDO), jointly developed by Orphanet and the European Bioinformatics Institute (EBI), provides a structured vocabulary for rare diseases, capturing relationships between diseases, genes and other pertinent features, in a language directly understandable by computers. ORDO is available to all on the sites of BioPortal, EBI as well as Orphadata.
2014 was a year rich in rare disease events, kicked off by the highly successful international Rare Disease Day on 28th February 2014. Last year marked a record high of 84 participating countries and 410 events around the world: 9 countries participated for the first time (Cuba, Ecuador, Egypt, Guinea, Jordan, Kazakhstan, Kenya, Oman, and Paraguay). EURORDIS, organiser of the day, held a policy event in Brussels to mark the day. The 7th European Conference on Rare Diseases and Orphan Products was held in Berlin from 8-10 May bringing together 750 participants from over 40 countries, providing an excellent networking opportunity and the time to share experiences and explore new horizons. Taking stock of achievements and future endeavours to improve the quality of life of people with rare diseases, the conference report, presentations, and abstracts from the conference cover a range of interesting themes, ranging from healthcare services to research, from orphan products to approaches beyond medical care.
Another major event was the much awaited 2nd International Rare Diseases Research Consortium (IRDiRC) conference which took place in Shenzhen, China on 7-9 November 2014. Organised by IRDiRC in partnership with BGI, the conference brought together over 600 rare disease stakeholders from all over the world to discuss and share experiences and expertise. The main theme of the conference was collaboration, placing emphasis on contributing towards expertise, information and technology via global networks to improve diagnosis of rare diseases, patient access to best treatment and care, and patient and family support. IRDIRC promises to contribute to the development of 200 therapies for rare disease and means to diagnose all of them by 2020, which can only be possible through the collaborative efforts of academics, researchers, clinicians, industry leaders, policy makers and patient advocates, internationally.
In terms of support to the IRDiRC’s aims, the European Commission started to launch previously announced calls for proposals, including the continuation of the activities of the E-Rare ERA-Net on rare diseases which funds joint transnational calls between European funding bodies: this coordination activity was assured for the period of 2014-2019.
In the field of orphan medicinal products, 2014 saw a record number of orphan designations and market authorisations in Europe and the USA. At European level, the European Medicines Agency’s Committee on Orphan Medicinal Products (COMP) granted 196 positive opinions for orphan drug designation out of 259 examined submissions, and the European Commission granted 160 designations. Twelve products were granted marketing authorisation at European level in 2014 (consult the COMP’s meeting report of December 2014).
In the US, the Food and Drug Administration (FDA) reached a milestone with a record 49 approvals for rare diseases, with 467 designation requests (a nearly 35% increase over 2013), and 293 orphan drug designations grants, which constitutes approximately 13% increase over 2013). Although this provides an excellent incentive to developers of orphan drugs, they often carried with them a price tag that remains unaffordable by many rare disease patients.
What are the hopes of the ever advancing rare disease community at the beginning of this new year? As at the end of each year, there is cause for both pessimism and optimism. The rare disease field remains politically dynamic, but the biggest challenge for the future will be the successful implementation of national plans and strategies for rare diseases in the current economic context. Limited resources, both at European and national level, will be established and creative solutions will be proposed. Scientific discoveries continues to accelerate in the field of rare diseases, bringing with them a wealth of new knowledge to be applied in the treatment of rare diseases.
The Telethon in France ended on 7 December, 2014 with the counter showing € 82,353,996. This impressive fundraising effort has been applauded by the four families with children combating a rare disease as well as the researchers. On behalf of the families and researchers, AFM Téléthon thanked the sponsor - Garou, the children, volunteers, partners, artists, animators and, France Télévisions for the device exception made for the 28th Telethon. For 30 hours, the France Télévisions channels settled at the feet of the brillian Eiffel Tower in Paris, as well as in Metz, Perpignan, Marseille, Valves and Guadeloupe to bring on the extraordinary success of the 28th edition of the Telethon. 
A study published in the Orphanet Journal of Rare Diseases, determined the burden of Duchenne (DMD) and Becker (BMD) dystrophy in Germany. Both these dystrinopathy causes progressive disability leading to "reduced working capacity and high health care utilisation". The authors utilised a micro-costing method to examine the direct as well as indirect costs borne by patients, relatives, payers and society, to measure and compare the economic burden of DMD and BMD in Germany. The authors estimated that the annual disease burden including direct medical/non-medical, indirect and informal care costs of DMD was € 78,913 while total costs in BMD was € 39,060. The authors noted that loss of productivity and absenteeism of patients/caregivers as well as medical costs of rehabilitation services and medical were the most important indirect cost drivers and that the total costs increased with disease progression and clinical severity. The authors believe that “early assessments of economic aspects and the disease burden are essential to gain extensive knowledge of a distinct disease and above all play an important role in funding drug development programs for rare diseases”.
Health Policy published a review of where lack of research on the socioeconomic cost, direct and indirect, for 10 rare diseases in the context of the BURQOL-RD project (“Social Economic Burden and Health-Related Quality of Life in patients with rare diseases in Europe”) was presented. The 10 rare diseases included Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X syndrome, Haemophilia, Juvenile Idiopathic Arthritis, Mucopolysaccharidosis, Scleroderma, Prader-Willi Syndrome, Histiocytosis and Epidermolysis Bullosa. The authors found that the level of existing evidence is highest for diseases with available drug treatments and is not necessarily associated with disease rarity. They also found that cost evidence on rare diseases appears to be very scarce, with Cystic Fibrosis and Haemophilia being relatively well studied, compared to the other conditions and total lifetime cost figures were found only across four diseases, and total annual costs (including indirect costs) across five disease. Although methodological variations prevent any detailed comparison between conditions, most of the rare diseases examined are associated with significant economic burden, both direct and indirect. Most of the rare diseases examined in this study are associated with significant economic burden. Indirect costs associated with loss of productivity in most cases approach or exceed the level of direct costs. The study also revealed methodological issues related to the comparability of the available evidence across borders which need to be addressed in future research. 
Genomics England, a wholly owned Department of Health company, has been set up to deliver the latest “big genomics” venture, where 100 000 whole genomes from 75 000 patients and 25 000 genomes of tumours are to be sequenced by 2017. On Dec 22, NHS England announced that 11 centres across the country will become designated Genomic Medicine Centres to help deliver the targets of this project which focuses on rare diseases, infectious diseases, and cancer. According to researchers and clinicians, this ambitious but exciting project will require a huge amount of complex statistical analysis of huge amounts of linked clinical and molecular data marking the next era of bioinformatics in clinical research. Genomics England plan to use a new international system called 
Speaking at the first stakeholders roundtable meet (RTM) undertaken by the Lysosomal Storage Disorders Support Society (LSDSS) India, the health minister of the state of Rajasthan in India - Rajendra Singh Rathore, has promised all possible support to patients with rare diseases. Rathore said the government would undertake a number of welfare initiatives, including setting up a committee, making treatment available under National Health Mission and making drugs available under the free medicine scheme, for such patients.
The University of Connecticut has announced a new stem cell research collaboration in the field of rare disease with Cheshire, Conn.based Alexion Pharmaceuticals Inc. The research collaboration will focus on the discovery and testing of therapeutic candidates to treat rare and disabling disorders for which there are currently no effective treatments. The collaboration will expand on the work of David Goldhamer, professor of molecular and cell biology and associate director of the University of Connecticut Stem Cell Institute. Goldhamer has identified the progenitor cell type that drives the pathology of a group of diseases, and has developed physiologically relevant disease models. These models will be used to further understand the pathophysiology of these disorders, and to test potential therapeutics.
China Social Assistance Foundation (CSAF) launched the China Child Rare Disease Aid Fund in China National Children's Center in Beijing on Dec. 26, 2014. Considered to be the first special fund for minors with rare disease, the fund aims to help children with their sickness and at the same time establish a support system to boost their morale. The fund also plans to employ and give entrepreneurship assistance to the family members. However, the fund's main goal is to investigate the source of the diseases, create policies and regulations, cooperate in the international research about the disease, and enhance social harmony among children afflicted with disease. DeExpo President Zhang Yong donated 5,000,000 yuan (USD 804,531) on behalf of DeExpo.
A report by the McKell institute in Australia has concluded that Australia’s system of funding rare diseases, conducted by the Life Saving Drug Program (LSDP), is in need of reform. This informative report highlights several challenges involved in bringing treatments for rare disease patients in Australia. The report identifies several problem areas including the fact that there is no common definition for rare diseases in Australia. The report also highlights that only two therapies, Kalydeco for Cystic Fibrosis, and Soliris for Atypical Hemolytic-Uremic Syndrome, are currently approved under Australia’s current program for rare disease therapies. Additionally, the report emphasises that Australian rare disease patients wait considerably longer than other western countries to access drugs, which sometimes could be as long as 8 years. The report makes five recommendations to overhaul the current program commencing with the formulation of a national strategy for rare diseases. Also recommended is flexibility in the analysis of cost-effectiveness and assessment of new therapies for rare diseases.
