Rare diseases – new developments and initiatives

The aim of this year’s Rare Disease Day, Rare Disorders Without Borders, was to promote the message that international collaboration between patients, clinicians and researchers is imperative to find cures for rare diseases. Indeed, this has been the feeling of patients and researchers for some time, and this week’s blog discusses some new projects and collaborations that have been developed to find cures and support those with rare diseases.

The Seventh Framework Programme for Research and Technological Development (FP7) is an EU initiative that has funded around 100 collaborative rare disease research projects since 2007. One such project is EUROPLAN, involving clinicians, researchers, health authorities, and patient organisations from 34 countries, to develop care plans for rare diseases. Based on the recommendations made by EUROPLAN, the EU has now called for all member states to draw up and implement national care plans for rare diseases by the end of 2013, ensuring that access to health care and treatment for rare diseases will be standardised throughout all EU member states.

Founded in 2010, the International Rare Disease Research Consortium (IRDiRC) is a network of rare disease researchers and funders. IRDiRC aims to develop 200 new therapies and the means to diagnose most rare diseases by 2020 and has committed to spend €500 million on rare disease research. The consortium had its inaugural conference in Dublin last week, and will be the subject of next week’s blog.

Historically, pharmaceutical companies have been reticent to develop drugs for rare diseases, so-called orphan drugs, as they are unlikely to recoup the cost of developing the drug. The Orphan Drug Act of 1983 – and similar initiatives in Europe and Japan – set out financial and operational incentives to encourage companies to develop orphan drugs (O’Conner, 2013). Currently the research published on orphan drugs is scattered throughout the literature and can be difficult to find. A new journal, Expert Opinion on Orphan Drugs, collates research on orphan drugs into a single place and will provide reviews and editorials from experts in the field. Additionally, two further journals focussed on rare disease research the Journal of Rare Disorders and Rare Diseases, have also been launched this year. Together, these three journals nearly double the number of journals dedicated to rare disease and orphan drug research.

The lack of interest in rare diseases from pharmaceutical companies could be, in part, due to the term “rare”, which could be interpreted to mean “not of broad clinical significance” or “unprofitable”. A recent article by Dr Anil Mehta, says that rare diseases should be considered as extreme versions of common diseases, and should instead be called “sentinel diseases”. Dr Mehta illustrates his point using the example of BHD Syndrome and suggests that by determining how FLCN mutations cause kidney cancer in BHD syndrome, we will inevitably learn how other forms of kidney cancer develop.

This sentiment was echoed several times at the IRDiRC conference and is embodied by the ethos of Findacure, a funder of rare disease research. Findacure believe that fundamental disease mechanisms underlie both common and rare diseases, and will be best elucidated – and ultimately cured – by studying the most extreme form of these diseases, which are usually the rarer forms. Thus, Findacure refer to these diseases as “fundamental diseases” rather than “rare”.

It is also becoming increasingly clear that drugs developed for common ailments can be re-purposed to treat rare diseases (McCormack et al., 2011), meaning that the reverse is likely to be true. Thus, rare disease research will also lead to insights into the causes of and new interventions for common diseases, making it an increasingly attractive area for pharmaceutical research and investment and hopefully speeding up the development of much needed therapies for common and rare diseases alike.


  • McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM, Brown KK, Lynch JP 3rd, Goldberg HJ, Young LR, Kinder BW, Downey GP, Sullivan EJ, Colby TV, McKay RT, Cohen MM, Korbee L, Taveira-DaSilva AM, Lee HS, Krischer JP, Trapnell BC, National Institutes of Health Rare Lung Diseases Consortium, & MILES Trial Group (2011). Efficacy and safety of sirolimus in lymphangioleiomyomatosis. The New England journal of medicine, 364 (17), 1595-606 PMID: 21410393
  • O’Connor, D. (2013). Orphan drug designation – Europe, the USA and Japan Expert Opinion on Orphan Drugs, 1 (4), 255-259 DOI: 10.1517/21678707.2013.769876