Global Collaborations Tools Rare Diseases International

We work with national, international and regional alliances around the world as part of our mission to improve the health and well-being of patients living with rare diseases. In addition to the global initiatives listed below, NORD Membership is available for rare disease organizations that serve patients at the national or pan-regional level that meet our qualifications. Learn more about membership. As part of our partnership with Rare Diseases Europe (EURORDIS), NORD acts as the national sponsor for the global Rare Disease Day campaign. We work with our partners internationally to recognize, celebrate and generate attention for rare diseases on this annual day of awareness, held each year on the last day of February. Learn more about Rare Disease Day in the U.S.

As a global alliance of patient organisations, RDI brings together national and regional rare disease groups and federations to ensure greater equity for all persons living with a rare disease and their families across... RDI advocates for rare diseases as an international policy priority, represents persons living with rare disease and their families at international institutions and on global platforms, and supports the empowerment of its members through... Learn more about RDI. International Rare Disease Research Consortium (IRDiRC) The International Rare Diseases Research Consortium (IRDiRC) unites national and international governmental and non-profit funding bodies, companies (including pharmaceutical and biotech enterprises), umbrella patient advocacy organizations, and scientific researchers to promote international collaboration and... Importantly, the coverage of the Consortium is global and involves stakeholders from Africa, Asia, Australia, North America, and Europe.

Learn more about IRDiRC Author for correspondence (rogic@msl.ubc.ca) The authors declare no competing or financial interests. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly... Rare diseases collectively impact hundreds of millions worldwide, yet the genetic causes of many remain unknown or poorly understood. Model organisms (MOs) – such as yeast, fly, zebrafish and mouse – provide powerful experimental systems for functional validation of candidate genes and variants, elucidation of gene function and disease mechanisms, and identification of...

However, gaps persist between clinical gene discovery and MO-based research. The Canadian Rare Diseases: Models and Mechanisms (RDMM) Network was established in 2014 to address this gap by linking clinicians with MO researchers through a scientist registry and peer-reviewed funding process. Over the past decade, the RDMM Network has funded over 160 collaborative projects, enabled insights into numerous rare conditions, and led to sustained partnerships and external funding. The RDMM Registry software has been adopted internationally, forming a network of interoperable registries that enable cross-border collaborations and expand access to MO expertise worldwide. Going forward, the Canadian RDMM Network remains committed to sharing its tools, processes and experience to help establish new RDMM-like networks worldwide and invites the global research community to join efforts to accelerate rare... Keywords: Rare genetic diseases, Model organisms, Functional insights, Gene discovery, International collaboration

Global Collaboration in Natural History Initiatives for Rare Diseases Rare diseases by definition affect small populations, often scattered across countries and continents. While each rare condition may impact only a few individuals per million, collectively they affect over 400 million people worldwide. In this fragmented landscape, conducting comprehensive natural history studies at a national level often yields limited insights. Global collaboration is essential to pool patients, harmonize data, and accelerate understanding of disease progression. Natural history studies are increasingly being designed as multinational efforts, combining resources, clinical expertise, and patient registries across borders.

These initiatives are not only enriching data quantity and quality but also fostering alignment in regulatory science, trial readiness, and real-world evidence generation. International natural history initiatives aim to: These goals are particularly relevant in conditions with ultra-rare genotypes or highly variable clinical courses, such as mucopolysaccharidosis, Batten disease, or mitochondrial disorders. Discover how electron microscopy advances plant and microbial research with expert insights from the John Innes Centre’s bioimaging facility. Discover how Abselion’s Amperia™ platform delivers fast, reproducible His-tagged protein quantification with minimal prep, even from crude lysates. Discover how modular cleanrooms offer scalable, compliant solutions for evolving industries.

Expert insights from Monmouth Scientific’s Lewis Irish. A new IRDiRC publication, “Fostering International Interoperability of Clinical Research Networks to Tackle Undiagnosed and Under-Researched Rare Diseases” is now available. This publication highlights the outcomes of a 2022 global meeting hosted by the International Rare Diseases Research Consortium (IRDiRC) and the European Joint Programme on Rare Diseases (EJP RD), which convened key stakeholders to... The article covers: Read the full article here: https://doi.org/10.3389/fmed.2024.1415963 Rare diseases, according to the definition of the European Union, refer to diseases with a population incidence less than 1:2,000.

Although individually rare, as a group, they are numerous and affect 4% of the population. More than 80% of these rare diseases are hereditary and many of them have a complicated pathophysiology and lack an effective treatment. In recent years, this pessimistic perspective about rare diseases has been revolutionised through a wider application of molecular genetic diagnostics. Major advancements have been made in rare disease research and an increasing number of innovative therapeutics are now available for commercial use. Despite these technological advancements, the global outlook for rare diseases still faces major challenges, ranging from health inequities within countries or across regions, prioritisation in national healthcare policies, differences in social welfare and health... There are multiple obstacles and gaps calling for action and substantial opportunities for improvement.

In response to the strong plea from the rare disease population, the 7th Asia-Pacific Economic Cooperation (APEC) High-Level Meeting on Health and the Economy 2017 has set up an initiative for rare diseases and... Another initiative led by the World Health Organization (WHO) and Rare Diseases International (RDI) is also underway to promote universal health coverage (UHC) for rare diseases through a global collaborative network in rare disease... On 16 December 2021, the United Nations adopted the first resolution addressing the challenges experienced by persons living with a rare disease and their families. Through these high-level, policy-driven movements, a growing opportunity in cross-regional rare disease collaborations at different levels is seen. It is time for action. This is a preview of subscription content, log in via an institution to check access.

Tax calculation will be finalised at checkout Asia-Pacific Economic Cooperation. (2017). APEC action plan on rare diseases. https://www.apec.org/-/media/Satellite/Rare-Diseases/APEC_ActionPlan.pdf Department of Health and Social Care.

(2022). England rare diseases action plan 2022. https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2022 Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below. Listen to these summaries on the Rare Research Report podcast.

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. Patients with rare diseases like HHT are more likely to experience increased health outcome disparities due to inequitable healthcare. In this study, researchers assessed disparities in access to clinical care and research for patients with HHT. First, the team collected race data from BVMC study recruits at HHT clinics in Toronto and San Francisco. Next, they compared the racial differences between HHT patients recruited for research and HHT patients in the general population. Results reveal preliminary evidence of racial differences between HHT center clinic patients and surrounding populations.

Findings also show an association between race and enrollment to HHT research studies. Authors note that this study lays the foundation for beginning to address disparities in HHT care and research.

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