Rare Disease Day celebrates 7 years of success today
It is now 7 years since the celebrations of Rare Disease Day was started. Rare disease day has been an iconic celebration of our appreciation for rare disease patients and stakeholders for their efforts. Today the celebrations have reached its pinnacle in the 7 years with record number of countries from all over the world participating in the celebrations. Seventy-three countries participated in the 2013 Rare Disease Day event, with more entries this year. Many have contributed to the “show of hands” ritual which stakeholders have contributed to in all these years. This years’ slogan - Join Together For Better Care - urges us to explore how we can assist to gain better care for the patients, be it in obtaining access to medications, or access to expert services or access to social services.
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This year’s official video (above) for Rare Disease Day, which is now available in seven different languages, is superbly presented and inspiring in its message. This video, already popular with more than 17,000 views and more than 200 likes on YouTube, was created in Barcelona by the production company These Glory Days, accompanied by the music of Delorentos, who generously offered the use of their appropriately named song "Care For".
This year Eurordis has also announced a Rare Disease Day ambassador, Sean Hepburn Ferrer, the son of Audrey Hepburn -who struggled with a rare cancer- but whose philanthropic efforts have inspired Sean Hepburn Ferrer as well. He promises to stand with rare disease patients in solidarity in their fight to get better care for patients all around the world. EURORDIS is also organising a Policy Event in Brussels that deals with Improving Access to Rare Disease Care: The Vision of Patients.
In a historic move, the Belgian parliament has recently passed a bill that allows terminally ill children to request euthanasia where it has been legal for adults for the past 12 years. Belgiums neighbour, the Netherlands, has legalised euthanasia for children over the age of 12 years with parental consent, but Belgium will be the first country in the world to remove any age limit on the practice. According to the bill, euthanasia may be requested by terminally ill children (of any age) who are in great pain and also have parental consent. The law states a child would have to be terminally ill, face "unbearable physical suffering" and make repeated requests to die – before euthanasia is considered. Additionlly, parents, doctors and psychiatrists would have to agree before a decision is made. Opponents argue children cannot make such a difficult decision.Supporters of the legislation argue that in practice the law will affect an extremely small number of children, who would probably be in their teens. 
In December 2012, the prime minister of UK unveiled plans to sequence the genomes of 100 000 NHS patients over the next three to five years and the Department of Health decided to set up Genomics England to help deliver the 100K Genome Project into mainstream healthcare in the NHS in June 2013. Although these two key announcements have the potential to change the scenery of genome sequencing for clinical purposes in the UK, several questions about the consequences of these policies have been broached. In an opinion segment published in BMJ, Caroline Wright and colleagues illustrate how policy makers around the world are currently grappling with how to guide the implementation of genome sequencing in the clinic. The authors emphasise the need for "clear testing policy to be agreed that covers issues such as whom to test and how to store, protect, and share genomic data appropriately".
Earlier in 2013, China announced the launch of a China Rare Diseases Prevention and Treatment Alliance on Rare Disease Day in Jinan, China. This alliance, founded by Shandong Academy of Medical Sciences, included 17 medical institutions from 13 provinces in China (with a population of 0.7 billion), at that time. Members of the alliance have recently published an article in the Orphanet Journal of Rare Diseases on the goals and challenges of the rare disease alliance in China. The authors rightly point out that China faces a challenge of great magnitude as it is recognised as one of the countries with the world’s largest rare disease population. Due to which the authors believe that help for rare disease patients living in China should be available in the near future. Some of the problems that the authors mention are the lack of legislation that benefit rare disease patients (such as a push towards research) and legislation that encourages orphan drug development. This is compounded by the fact that China also lacks patient registries and data repository systems for rare diseases which limits epidemiologic studies and multi-centre clinical trials on rare diseases. Additionally heterogeneity of regions in China makes uniform regulations for all rare disease patients living in these diverse regions problematic. 
The role of the Office of Population Health Genomics (OPHG) in Western Australia (WA) is to integrate advances in genomics into health policy and improve the health of the population of WA. OPHG implements policy and service planning and development cycle comprised of research, development, implementation, monitoring and evaluation. All of these phases can involve stakeholder consultation and engagement. In recent years rare diseases have been a major focus for OPHG. The Office of Population Health Genomics Yearbook 2013 is now available, which encapsulates key successes of OPHG in 2013 that include the development of a scoping paper on the need for a national rare diseases plan (requested by The Australian Health Ministers Advisory Council (AHMAC)), the development and expansion of registries for rare diseases and the establishment of a Screening Policy Section (formed in 2012) as well as future directions. The yearbook has outlined that OPHG maintains strong, international networks with other individuals and organisations within the field of genomics and rare diseases such as IRDiRC, RD-Connect, RARE Best Practices, Orphanet, TREAT-NMD, RARE Best Practices. It also makes and honourable mention of the visits of experts in the field of rare diseases, especially Orphanet and IRDiRC: Dr. Segolene Ayme and Dr. Odile Kremp and their contributions from the French experience. 
Nature Biotechnology has published a comprehensive survey of clinical success rates of drugs approved by Food and Drug Administration (FDA), across the drug industry to date shows productivity may be even lower than previous estimates. The article consists of a section on how successful orphan drugs have been over the years in its different phases of obtaining marketing authorisation from the FDA. The authors report that although drugs for orphan indications have high rates of phase 1 and 2 success, phase 3 and New Drug Application (NDA)/Biologic License Application (BLA) success rates are similar to the regular drugs. Orphan drugs can receive orphan status at all stages of development: preclinical, phase 1, phase 2, phase 3 and NDA/BLA. The authors found that orphan indication for phase 1 and 2 success rates were well above average. Orphan phase 3 success rates also compared favorably with all indications and orphan NDA/BLA approvals were lower. A subgroup analysis of phase 3 and NDA/BLA stage orphan drugs by indication reveals that the success rates of orphan drugs as oncological treatment were lower than nononcology drugs with an orphan indication. The authors believe that some of the low phase 3 rates may be attributed to trial design factors and insufficient communication between sponsors and regulators during their end-of-phase-2 meetings. The authors recommend simultaneous improvements in basic science to enable improvements in success rates. According to authors their data is a cautionary tale as achieving FDA approval for only one-in-ten drug indications that enter the clinic is a concerning statistic for drug developers, regulators, investors and patients. 
