Joining together for better care: celebrating Rare Disease Day 2014

Rare Disease Day is an annual, awareness-raising event co-ordinated by the European Organization for Rare Diseases (EURORDIS), national alliances and patient organisations. Rare diseases are easily neglected, and this international advocacy day is important because everyone living with a rare disease should be able to receive high-quality services, treatment and support. Although these diseases are rare individually, collectively they are not, with 1 in 17 people being affected by a rare disease at some point in their life.

The theme of Rare Disease Day 2014 is “care”, with a focus on encouraging the rare disease community to join together for better care,  from practitioners to policymakers, social services to scientists, policy makers, and, crucially, patients. Collaboration is necessary to advance care for rare diseases – a challenge, as both patients and published research are relatively sparse. Avoiding competing research projects and insufficient participant group sizes are just two of the reasons that researchers joining together is essential. The success of organisations such as the UK Cystic Fibrosis Gene Therapy Consortium demonstrates the advantages of institutions combining their research efforts to push science further.

Open access plays an important role in this collaboration, as it further facilitates information sharing so that researchers across a whole discipline, and beyond, can benefit from and build upon each others’ work. This can help to accelerate the process of taking treatments to the clinic, which is invaluable since 30% of rare disease patients will die before their 5th birthday.

For this year’s Rare Disease Day, we have lots going on across BioMed Central journals and blogs, looking at both the broader challenges surrounding research into rare disease and more specific questions surrounding certain conditions.

Orphanet Journal of Rare Diseases has published a special series of articles today, including an Editorial by Ségolène Aymé (INSERM, France) and Charlotte Rodwell (INSERM, France), that details activities by the EUCERD and European Commission to strengthen liaison at both European and International levels in the field of rare diseases. In addition, an Editorial by the former NIH Director of the Office of Rare Diseases Research, Stephen Groft (NIH, USA), provides an insight into rare disease interventions and orphan drug development in the USA.

Cancer & Metabolism has published an interview today with Ralph DeBerardinis (UT Southwestern, USA) that looks at inborn errors of metabolism and what we can learn from them about metabolism and cancer. Inborn errors of metabolism are rare, and comprise a large group of genetic diseases that disrupt metabolism. The resulting syndromes from inborn errors of metabolism are often severe, and can be life threatening, including symptoms such as developmental defects, deafness and intellectual disability. It seems that many of the pathways that are disrupted in inborn errors of metabolism are similar to those that are altered in cancer cells and so new drugs being developed for targeting cancer’s altered metabolism may be effective against inborn errors.

Neglected tropical diseases are rare infectious diseases traditionally confined to tropical regions, however, although they are considered rare, their economic and social impact is far from insignificant. Worryingly, many of these diseases are no longer confined to ‘tropical’ regions and are a rising concern globally. The importance of eradicating them is now a tangible goal for many governments and international agencies. To share the success stories and lessons learned from eradication programmes, Parasites & Vectors has established a dedicated special series to the Eradication of parasitic infections.

Over on our blogs, we’re bringing together a range of perspectives on rare disease research, and the contribution of open access to this. Alastair Kent OBE, Director of Genetic Alliance UK and Chair of Rare Disease UK has written for us about what Rare Disease UK does, and the difference open access has made to their efforts to improve treatment for patients. In the blog he says increased access to research creates “a virtuous circle whereby greater awareness leads to greater resources, attracting more researchers, producing better outcomes, delivering health gains, thereby raising awareness further and turning the wheel again!”

Also on the blogs, Pippa Harris has written about a paper published today in BMC Developmental Biology characterising the pre-natal growth patterns of the rare disease Apert syndrome and Biome have published a Q&A with Professor Joan Richtsmeier, lead author on the paper. Joan speaks about the narrow treatment options that currently exist for people with this condition, and how she hopes research into this could lead to better, more tailored treatments.

Richtsmeier explains that “Currently, the only option for people with Apert syndrome is rather significant reconstructive surgery, sometimes successive planned surgeries that occur throughout infancy and childhood, and into adulthood… But, if what we found in mice is analogous to the processes at work in humans with Apert syndrome, then we need to decide whether or not a surgical approach that we know is necessary, is also sufficient. If it is not in at least in some cases, then we need to be working towards therapies that can replace or further improve surgical outcome.”

To find out more about Rare Disease Day, you can visit the campaign website.

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