Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders. Adam L. Hartman, Anneliene Hechtelt Jonker, Melissa A. Parisi, Daria Julkowska, Nicole Lockhart and Rosario Isasi. European Journal of Human Genetics, 2019. Access the paper here
The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases – recommendations of the IRDiRC Data Mining and Repurposing Task Force. Noel T. Southall, Madhusudan Natarajan, Lilian PL. Lau, et al. Orphanet Journal of Rare Diseases, 2019. Access the paper here
- A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Kym M. Boycott, Taila Hartley, Leslie G. Biesecker, et al. Cell, March 2019. Access the paper here
- International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases. Kym M Boycott, Lilian PL LAU, Christine M Cutillo, Christopher P Austin. EMBO Molecular Medicine, April 2019. Access the paper here
- Unsolved recognizable patterns of human malformation: Challenges and opportunities. Kym M Boycott, David A Dyment, A Micheil Innes. Am J Med Genet, November 2018. Access the paper here
- Recommendations for the design of small population clinical trials
Simon Day, Anneliene H Jonker, Lilian LP Lau, et al.
Orphanet Journal of Rare Diseases, November 2018. Access the paper here
- Privacy-Preserving Linkage of Genomic and Clinical Data Sets
Dixie Baker, Bartha M Knoppers, Mark Phillips, et al.
IEEE/ACM Transactions on Computational Biology and Bioinformatics, July 2018. Access the abstract here
- Responsible sharing of biomedical data and biospecimens via the “Automatable Discovery and Access Matrix” (ADA-M)
J Patrick Wooley, Emily Kirby, Josh Leslie, et al.
NPJ Genomic Medicine, July 2018. Access the abstract here
- Addressing challenges in the diagnosis and treatment of rare genetic diseases
Kym M. Boycott and Diego Ardigo.
Nature Reviews: Drugs Discovery, March 2018. Access the abstract here
- A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)
Christine M Cutillo, Christopher P Austin and Stephen C Groft .
Rare Diseases Epidemiology: Update and Overview, December 2017, doi: 10.1007/978-3-319-67144-4_20, access the abstract here
- The International Rare Diseases Research Consortium: policies and guidelines to maximize impact
Hanns Lochmüller, Josep Torrent i Farnell, Yann Le Cam, et al.
European Journal of Human Genetics, November 2017, doi: 10.1038/s41431-017-0008-z, access the abstract here
- Measuring what Matters to Rare Disease Patients – Reflections on the work by the IRDiRC Taskforce on Patient-Centered Outcome Measures
Thomas Morel and Stefan J Cano
Orphanet Journal of Rare Diseases, November 2017, doi: 10.1186/s13023-017-0718-x, access the abstract here
- Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective
Christopher P Austin, Christine M Cutillo, Lilian PL Lau, et al.
Clinical and Translational Science, August 2017, doi: 10.1111/cts.12500, access the abstract here
- Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective
Hugh JS Dawkins, Ruxandra Draghia-Akli, Paul Lasko, et al.
Clinical and Translational Science, August 2017, doi: 10.1111/cts.12501, access the abstract here
- Medical research: Next decade’s goals for rare diseases
Christopher P Austin and Hugh JS Dawkins.
Nature, August 2017, doi: 10.1038/548158c, access the abstract here
- The importance of international collaboration for rare diseases research: a European perspective
Daria Julkowska, Christopher P Austin, Christine M Cutillo, et al.
Gene therapy, July 2017 online and September 2017, doi: 10.1038/gt.2017.29, access the abstract here
- International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Kym M. Boycott, Ana Rath, Jessica X. Chong, et al.
The American Journal of Human Genetics, May 2017, doi: 10.1016/j.ajhg.2017.04.003, access the abstract here
- “IRDiRC Recognized Resources”: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
Hanns Lochmüller, Yann Le Cam, Anneliene H Jonker, et al.
European Journal of Human Genetics, February 2017, doi: 10.1038/ejhg.2016.137, access the abstract here
European Journal of Human Genetics, July 2016, doi: 10.1038/ejhg.2015.236, access the abstract here
- The Matchmaker Exchange: a platform for rare disease gene discovery
Anthony A. Philippakis, Danielle R. Azzariti, Sergi Beltran, et al.
Human Mutation, October 2015, doi: 10.1002/humu.22858, access the abstract here
The members of the International Rare Disease Research Consortium’s (IRDiRC) Therapies Scientific Committee (TSC) have discussed and agreed on a specific set of recommendations to guide policies and funding strategies so as to reach its original goal of 200 new therapies by 2020, based on IRDiRC Policies & Guidelines which were adopted in April 2013. They focus on the improvement of guidelines for the clinical development of orphan drugs; the alignment of scientific and regulatory guidance and the enhancement of the continuous data collection and assessment all along the life cycle of therapy.
- The Task Force working on Patient-Centered Outcome Measures (PCOM) has published the post-workshop report and its recommendations. This report is available for consultation.