Rare Disease Research Requires International Collaboration Software


rare disease research innovation
Molecular schematic of nusinersen, a drug developed as a result of collaborative research targeting spinal muscular atrophy, a rare disease. Source: Public domain via Wikipedia user Vaccinationist.

Rare diseases are an area of growing interest for pharmaceutical companies and nonprofit laboratories worldwide. In an uncharacteristically optimistic new review published in Nature Gene Therapy, top researchers and public health officials applaud the recent fruits of collaborative science as facilitated by advanced software and inter-agency cooperation in the field of rare disease research.1

The authors of the new review emphasize the importance of collaboration between organizations, countries, laboratories and institutions, and pull no punches with their conclusion: “International collaboration in rare diseases research is key to improve the life of people living with a rare disease.” With such a strong endorsement, researchers everywhere will be looking for new opportunities to participate in orphan disease programs and rare disease programs where they can collaboratively share their data and work towards a cure together. Researchers will need a powerful software platform to manage all of the different connections and collaborations that rare disease research requires.

Why Rare Disease, and Why Now?

As the review notes, many countries have rare disease research programs which incentivize researchers and pharmaceutical companies to attempt to crack diseases which cause suffering for minute portions of the population.2 3 The authors of the review claim that historically these programs have produced good results in diseases like cystic fibrosis, but have been heavily augmented by the more recent introduction of collaborative infrastructure and programs specifically supporting collaboration between groups across country lines.4 While a general increase in collaboration between countries is great, the real advancements occurred in information technology and in public policy, per the review. Without information technology solutions which allow for small and medium sized private organizations to share data and collaborate with larger public institutions in a two way fashion, rare disease research would be much slower and lack the often-rapid program initiation to clinical trial pipeline.

To understand what the authors of the review are trying to get at may not be transparently obvious to researchers who spend their days in the lab. Large institutions working on rare disease research are typically hospitals, government laboratories and other majorly funded bodies which spend the majority of their time and attention on basic research within rare disease if they deal with rare disease whatsoever. These institutions are often patient-funded, but still have a limited mandate in terms of what kinds of research can be performed.5 Rare disease research is entirely patient centric, meaning that publicly funded basic research relating to rare disease is often extremely narrow in scope.6

Thanks to new software tools which allow these large institutions to post their findings in a disease-specific hub, small biotech companies and mid sized pharmaceutical companies can rapidly prototype new cures using the ready-made basic research conclusions.7

International Collaboration Is The Key, But Not Easy

The capstone of the European rare disease collaboration network is called E-Rare.8 Having a hub for information and collaborations is great, but it isn’t enough to smooth over all of the minor bumps that tend to come with international collaboration in the sciences. There are a number of barriers which can make international collaboration difficult, including but not limited to:

  • Difference in timezones
  • Different levels of fluency in common languages
  • Differences in data collection and annotation methodology
  • Differences in emphasized literature background when searching for new direction of inquiry
  • Differing institutional or national policies regarding handling of experimental and clinical data
  • Differences in number of personnel contributed to the project from each member of the collaboration
  • Data storage location, accessibility, and permissions

The authors of the review detail each of the above issues, and link each obstacle to one of many prepared solutions designed to smooth collaborative research. Among these solutions are virtual networks which allow healthcare specialists to compare notes, ready-made frameworks for implementing collaborative relationships, study design templates that are easier to implement in multiple sites than otherwise, and more.

It’s clear that the leading figures of the European health sciences community are intent on singing the praises of the collaboration enabling systems which they’ve built, but don’t go into deep detail regarding the major successes of the collaborative systems in their review. It’s safe to say that the biggest successes and breakthroughs in rare disease research are forthcoming, though: the data that the review does provide on the nature of collaboration indicates that most collaborators find their teaming up and linking into the larger collaborative infrastructure invaluable for their research.  

What Does The Future Of Rare Disease Collaborative Research Look Like?

Where the authors of the review refrain from entering into specifics is on the level of emphasis on laboratory-to-laboratory collaboration software. Though the review lists dozens of much larger scale collaborative tools and programs, it refrains from suggesting a single information management platform that individual laboratories can use to participate in collaborations with their peers at the same scale. Given that most laboratories will be linked into these larger systems via their company or institution’s participation, it makes sense that the review doesn’t propose a specific software solution.

For the individual laboratory, making the most out of the extensive collaborative infrastructure developed for rare disease research in the international context will require an advanced information technology platform that is modular and capable of seamlessly contributing to the larger community. Thankfully, there is such an information technology platform that’s ready for immediate use.

BIOVIA’s Collaborative Science Solutions is the information technology platform that the rare disease research and development laboratories of the future will use to enable and enhance their international collaborations. With Collaborative Science Solutions, your lab will be ready for any kind of data, literature, external methodology, and more. Contact us today to find out how BIOVIA can link your lab into the international rare disease research scene and help develop cures for the patients of today.

  1. “The Importance Of International Collaboration For Rare Diseases Research: A European Perspective.” July 2017, https://www.nature.com/gt/journal/v24/n9/abs/gt201729a.html
  2.  “Rare Diseases Act Of 2002.” 2002, https://www.gpo.gov/fdsys/pkg/PLAW-107publ280/html/PLAW-107publ280.htm
  3. “Regulation (EC) No 141/2000 Of The European Parliament And Of The Council Of 16 December 1999 On Orphan Medical Products.” January 2000, http://eur-lex.europa.eu/legal-content/EN/TXT/?uri=OJ:L:2000:018:TOC
  4. “Communication From The Commission To The European Parliament, The Council, The European Economic And Social Committee And The Committee Of The Regions: On Rare Diseases: Europe’s Challenges.” November 2008, http://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:52008DC0679&from=EN
  5. “EURORDIS Surveys; Patients Fund Research.” August 2016, http://www.eurordis.org/content/survey-patient-groups-research
  6. “International Rare Diseases Research Consortium: Patient-Centered Outcome Measures Initiatives In The Field Of Rare Diseases.” February 2016, http://www.irdirc.org/wp-content/uploads/2016/03/PCOM_Post-Workshop_Report_Final.pdf
  7. “Orphanet.” 2017, http://www.orpha.net/consor/cgi-bin/index.php
  8. “ERA-Net For Research Programmes On Rare Diseases.” 2017, http://erare.eu/infrastructures