Rare Diseases and International Collaboration: Sharing Knowledge for Global Impact

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Collaborative efforts
Knowledge exchange
Advancing care
Empowering patients
Overcoming barriers
Further reading 

Rare diseases, also referred to as orphan diseases, are medical conditions that affect a small percentage of the population. The definition may vary between regions. According to the FDA, rare diseases are diseases that affect <200,000 patients1. In Europe, a condition with less than 1 patient in 2000 is considered to be rare2. According to a study, the prevalence of a rare disease is 40 patients in 100,000 people globally3.

Rare diseases often have a genetic cause. A total of 3573 genes associated with these conditions have been identified so far. Cystic fibrosis, Gaucher disease, Pompe disease, hypophosphatasia, and Nieman–Pick, type C are some examples4. Recent advancements in molecular biology and analytic techniques have improved the diagnostic and therapeutic options for these conditions4

Image Credit: Rawpixel.com/Shutterstock.com

Collaborative efforts

The boom of the internet has significantly impacted and improved the collaborative scenario in rare disease research. The advent of various databases and multiple collaborations from research institutes across the world has led to a huge process in this field.

Several research groups have been established over the years to collaborate and exchange knowledge and expertise for the advancement of rare disease research. Through its complementing projects and initiatives, the European Union has been sponsoring cross-border research on RD for more than 20 years. In approximately 270 initiatives, more than €1 billion has been invested since 19985. European Reference Networks (ERNs) are virtual networks that bring together medical specialists across Europe to address rare or difficult diseases and disorders that require highly specialized healthcare. They were established under the 2011 Directive on Patient Rights in Cross-Border Healthcare6.

In order to promote global research collaboration and investment in the field of rare diseases, the International Rare Diseases Research Consortium (IRDiRC) was established in 2011. At the moment, it is a coalition of 20 countries' worth of funding and patient organizations7. The combined effect of international investments in rare disease research is maximized by these organizations. Fostering the development of novel therapeutic approaches and common registries and databases advances our understanding of the natural history of rare diseases8.

Knowledge exchange

Founded in France in 1997, Orphanet is a partnership that now operates in over 40 countries, collecting data and managing a single knowledge database about rare diseases and their classifications9.

The EU put ERA-Net E-Rare into effect in 2006. Enhancing complementarity to the larger multinational groups typically funded by the EU, as well as fostering joint sponsorship of relatively small and targeted research consortia, were the goals of this initiative. Eight nations were a part of the cooperation when E-Rare-1 got underway in 2006.

It started with initiatives to improve the knowledge base of the European landscape for RD research and two international calls that were issued in 2007 and 2009. 15 nations were a part of the E-Rare II phase, which ran from 2010 to 2014.

The main focus during this time was on strengthening the cooperation and coordination among the E-Rare partners. This was done in order to facilitate the systematic exchange of knowledge on national programs and to carry out strategic initiatives targeted at expanding the network of RD research funders8.

IRDiRC established its vision and three objectives in February 2017 that it aims to accomplish by 2027. The objectives are to diagnose all patients seeking medical attention for a suspected rare disease within a year if the disorder is documented in the literature; all patients who are now unable to receive a diagnosis will be included in a worldwide pipeline for coordinated diagnostic and research services.

To approve a thousand new treatments for rare diseases, most of them for conditions for which there are now no approved treatments, and creating techniques to evaluate how treatments and diagnosis affect people with rare conditions10.

​​​​​​​Image Credit: Daniel_Dash/Shutterstock.com​​​​​​​Image Credit: Daniel_Dash/Shutterstock.com​​​​​​​

Advancing care

Over 2,000 researchers from 82 nations worldwide have worked with the Centers for Mendelian Genomics in the USA to gather nearly 60,000 samples and discover over 1,200 novel disease genes9. Through the Care4Rare project in Canada, 21 university sites are linked to a super-team of collaborative doctors, researchers, and scientists. The aim is to improve patient care for rare diseases domestically and internationally.

Over the course of six years, they have examined over a thousand rare diseases and helped over a thousand families receive a diagnosis. They were also successful in identifying 130 new disease-causing genes9.

Similarly, the EURenOmics collaboration, a cooperative research network of over one hundred physicians and researchers from ten countries in Europe works to enhance research on rare kidney illnesses. Together, they have identified eleven novel genomic rearrangements, 26 novel disease genes, and novel diagnostic techniques in just five years9.

Empowering patients

The Internet has greatly facilitated the connections and sharing of care and research techniques between patients with rare diseases and their caregivers worldwide. Numerous smartphone applications are available to monitor health issues and gather epidemiological data to support the development and approval of drugs.

Patients are increasingly participating as full partners in their medical care and research. Better clinical outcomes and illness management are usually observed in patients who are connected through these groups9.

Patient advocacy groups have played a vital role in furthering the advancement of research by collaborating with different initiatives. Established in 2003, the Rare Diseases Clinical Research Network (RDCRN) unites nearly 2,500 researchers from several disciplines and more than 130 patient advocacy groups looking into more than 200 rare diseases. It also includes a shared data management center. Strong partner collaboration and sharing led to scientific breakthroughs and patient-relevant advances9.

For the Undiagnosed Diseases Network International (UDNI) initiatives, established in 2014, patient and family support for undiagnosed rare diseases is crucial. Worldwide patient organizations are eligible to become members of this initiative. Patient groups that speak for underrepresented and rare populations can help spread awareness of the UDNI and draw support from the general public.

This can influence important decision-makers regarding the significance of the initiative. In order to make sure that their initiatives are patient-focused, patient-friendly, and patient-driven, patient groups also offer their experience to the institutional, clinical, and non-clinical members of the UDNI11. Chinese Organization for Rare Disorders (CORD), Rare Diseases Europe (EURORDIS), and the Spanish Federation of Rare Diseases (FEDER) are some groups associated with UDNI 11.

Overcoming barriers

It is clear from the field of rare disease research that new techniques are required to enhance the overall quality of patient care, find novel therapeutic approaches, and lessen the socioeconomic impact of rare diseases. Better coordination between research funders, attention to research gaps, development of therapies, and collaboration between patients, physicians, and researchers will all be necessary for future advancements.

As specialists, essential partners, and facilitators of collaboration, patients and patient advocacy organizations are vital. Geographical and data governance constraints should be addressed by the alignment of policies and technologies. Networks of international scientific communities and professionals need to identify the main obstacles to productive and successful research and overcome them.


  1. Herder M. (2017). What Is the Purpose of the Orphan Drug Act?. PLoS medicine, 14(1), e1002191. https://doi.org/10.1371/journal.pmed.1002191
  2. Europlan: European Project for Rare Diseases National Plans Management. [Online]. Available from: http://ec.europa.eu/health/rare_diseases/national_plans/detailed/index_en.htm.
  3. Richter, T., Nestler-Parr, S., Babela, R., Khan, Z. M., Tesoro, T., Molsen, E., Hughes, D. A., & International Society for Pharmacoeconomics and Outcomes Research Rare Disease Special Interest Group (2015). Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research, 18(6), 906–914. https://doi.org/10.1016/j.jval.2015.05.008
  4. Pogue, R. E., Cavalcanti, D. P., Shanker, S., Andrade, R. V., Aguiar, L. R., de Carvalho, J. L., & Costa, F. F. (2018). Rare genetic diseases: update on diagnosis, treatment and online resources. Drug discovery today, 23(1), 187–195. https://doi.org/10.1016/j.drudis.2017.11.002
  5. The European Union Horizon 2020 Health Work Programme. [Online]. Available at: https://ec.europa.eu/research/participants/portal/desktop/en/opportunities/h2020/calls/h2020-sc1-2016-2017.html#c,topics=callIdentifier/t/H2020-SC1-2016-2017/1/1/1/default-group&callStatus/t/Forthcoming/1/1/0/default-group&callStatus/t/Open/1/1/0/default-group&callStatus/t/Closed/1/1/0/default-group&plus;identifier/desc
  6. Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients' rights in cross-border healthcare. [Online]. Available at: http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2011:088:0045:0065:en:PDF
  7. Abbott A. (2011). Rare-disease project has global ambitions. Nature, 472(7341), 17. https://doi.org/10.1038/472017a
  8. Julkowska, D., Austin, C. P., Cutillo, C. M., Gancberg, D., Hager, C., Halftermeyer, J., Jonker, A. H., Lau, L. P. L., Norstedt, I., Rath, A., Schuster, R., Simelyte, E., & van Weely, S. (2017). The importance of international collaboration for rare diseases research: a European perspective. Gene therapy, 24(9), 562–571. https://doi.org/10.1038/gt.2017.29
  9. Boycott, K. M., Lau, L. P., Cutillo, C. M., & Austin, C. P. (2019). International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases. EMBO molecular medicine, 11(5), e10486. https://doi.org/10.15252/emmm.201910486
  10. Vision & Goals – IRDiRC. [Online]. Available at: https://irdirc.org/about-us/vision-goals/

Further reading

Last Updated: Feb 28, 2024


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