Children's Hospital Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
IRDiRC Scientific Secretariat, Paris, France.
EMBO Mol Med. 2019 May;11(5). doi: 10.15252/emmm.201910486.
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.
罕见病影响着全球超过 3.5 亿人，常常多年未被诊断或误诊，这些疾病的医学知识十分匮乏且分散，导致患者能够获得的获批有效治疗方案更为罕见。尽管面临着无数的挑战，但必须面对研究和投资的巨大未满足需求，以提高诊断能力和推进治疗开发。几种根本性转变正在改变罕见病研究和开发的格局，特别是将结果应用和扩展到常见疾病，并推进个性化医学计划。汇集资源和知识的协作策略至关重要，包括团队科学、研究网络、新型融资模式、共享知识平台和创新监管框架。重要的是，患者也越来越多地作为研究伙伴和资助者参与其中，推动开放科学和透明度，并打破数据孤岛和地理边界，这通常得益于全球范围内可访问的在线平台。国际罕见病研究联合会（IRDiRC）成立于 2011 年，一直致力于团结利益相关者（例如，资助机构、公司、伞式患者倡导团体、研究人员和专家），寻求并推动旨在加速全球罕见病诊断和治疗开发的解决方案。进一步和未来的进展将取决于利益相关者之间的持续合作和协作，与患者携手合作，并使研究和开发效率呈指数级提高。至关重要的是，必须优先考虑与代表性不足的人群和欠发达国家的利益相关者接触，以使所有患有罕见病的人都能获得准确的诊断、护理和治疗。
