Eleanor Thurtle, Annabel Griffiths, and Danielle Sheard, Costello Medical, Cambridge, UK

Various challenges and conundrums are associated with strategic publication planning in rare diseases. These include how to contend with the non-traditional methods synonymous with rare disease research and evidence generation, and how best to disseminate the results to the target audiences for the rare disease through a strategic approach. Within Europe, a rare disease is defined as affecting fewer than 5 in 10,000 individuals.1

While it is well established that the publication of rare disease research is paramount to enhance awareness and advancement in the scientific community,2,3,4 the act of publication itself does not necessarily guarantee impact within its target audience. Strategic publication planning is essential for publication managers to convey communication points and data to the rare disease community, but how should an effective strategic publication plan be adapted to maximize publication impact in rare diseases?

The information below provides some key tips and considerations that should be at the forefront of any publication professional’s mind when delving into the world of rare diseases.


Developing publication plans for rare diseases presents distinct challenges for medical publication professionals. Ensuring awareness and proactive management of the different considerations above will better prepare publication managers to develop an effective strategy and communicate key research in this challenging field.


  1. European Medicines Agency. Committee for Orphan Medicinal Products. 2019. Available at: https://www.ema.europa.eu/en/committees/committee-orphan-medicinal-products-comp. Last accessed 15.01.19
  2. S. Aymé. Orphanet Journal of Rare Diseases. 2016;11:71. doi: 10.1186/s13023-016-0456-5
  3. T. Nakamura et al. World J Clin Cases. 2014;2(11):608-613
  4. M. Boon et al. Rare Diseases and Orphan Drugs. 2014;1:1;20-29
  5. D. Sheard et al. ISMPP The MAP Newsletter. 2018. Available at: https://ismpp-newsletter.com/2018/08/29/evidence-based-publication-planning-mapping-the-literature/. Last accessed 23.10.18
  6. EQUATOR Network. Reporting Guidelines. 2018. Available at: https://www.equator-network.org/reporting-guidelines/. Last accessed 23.10.18
  7. ICMJE. Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly Work in Medical Journals. 2018. Available at: http://www.icmje.org/icmjerecommendations.pdf.
  8. D. Taichman et al. 2017. Ann Intern Med. doi:10.7326/M17-1028
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