Abstract
Rare diseases, which affect over 350 million people worldwide and frequently go undiagnosed or misdiagnosed for years, suffer from sparse and dispersed medical knowledge leading to even rarer approved and effective therapeutic options for patients. A vast, unmet need for research and investment to advance diagnostic capabilities and therapeutic development must be confronted, despite the myriad of challenges faced. Several fundamental shifts are changing the landscape of rare diseases research and development, particularly with the application and extension of results to common diseases and the advancement of personalized medicine initiatives. Collaborative strategies that pool resources and knowledge are vital, including team science, research networks, novel funding models, shared knowledge platforms, and innovative regulatory frameworks. Importantly, patients are also increasingly involved as research partners and funders, pushing for open science and transparency, and breaking down data silos and geographical borders, often enabled by online platforms accessible from across the globe. The International Rare Diseases Research Consortium (IRDiRC), established in 2011, has been working diligently to unify stakeholders (e.g., funding bodies, companies, umbrella patient advocacy groups, researchers, and experts) to seek and drive solutions that aim to accelerate diagnosis and therapeutic development for rare diseases worldwide. Further and future advances will depend on continued collaborations and cooperation among stakeholders, working hand in hand with patients, and exponentially improving research and development efficiency. Critically, engagement with stakeholders from underrepresented populations and less‐developed countries must be prioritized, to enable all people living with a rare disease to receive an accurate diagnosis, care, and therapy.
Highlights
Rare diseases, which affect over 350 million people worldwide and frequently go undiagnosed or misdiagnosed for years, suffer from sparse and dispersed medical knowledge leading to even rarer approved and effective therapeutic options for patients
This leaves a vast, unmet need for research and investment to further understand the underlying mechanism of most rare diseases, to advance diagnostic capability, and to decrease the risk of therapeutic development
Orphanet has produced Orphacodes, a set of nomenclature to make rare diseases more visible within health and medical information systems. This set of nomenclature was used as a template for the 11th revision of the World Health Organization’s International Classification of Diseases (ICD) and has been integrated into public hospitals’ health records in France; work is underway to enable its implementation in other European countries following recommendations by the EC Expert Group on Rare Diseases
Summary
The dispersion of stakeholders and the wide diversity of research disciplines required for an effective understanding, diagnosis, and therapy development of any rare disease, much less all of them, dictate the need for a team strategy on a national level and an international level. In Canada, for example, the Care4Rare initiative connects 21 academic sites to a super-team of collaborating clinicians, researchers, scientists, and bioinformaticians, who work on improving the diagnosis and treatment of rare diseases for patients in Canada, but around the world. In 5 years, they have collectively discovered 26 new disease genes and 11 new genomic rearrangements; developed new diagnostic tests, four of which will be made commercially available; identified a new treatment for 10% of patients with genetic nephrotic syndrome; and built a biobank with samples from more than 20,000 patients. RD-Connect—a unique infrastructure to facilitate rare disease research by allowing researchers and clinicians to share genomic, phenotypic, registry, and biobanking information—includes data generated by both the EURenOmics and NeurOmics consortia, and many other research partners. The success of each of these initiatives and their advances in the field resulted from strong collaboration and sharing among partners that produced scientific insights and patient-relevant advances that would have been impossible for any one partner to achieve alone
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