Global Partnerships In Rare Disease Research Disease Models

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: Functional insights; Gene discovery; International collaboration; Model organisms; Rare genetic diseases. © 2025. Published by The Company of Biologists. Competing interests The authors declare no competing or financial interests. Sanja Rogic, Guillaume Poirier-Morency, Philip Hieter, Paul Pavlidis

Disease models & mechanisms. Volume 18. Issue 7. Jul 01, 2025. Epub Jul 28, 2025. PMID: 40719025 Bibliographic data and abstract were imported from PubMed on 07 Nov 2025.

Read full publication at: Please sign in to see all details. Did you like this publication? Sign up with Life Science Network. If you already have a Life Science Network account, sign in, or connect with LinkedIn, Google. Our research integrity and auditing teams lead the rigorous process that protects the quality of the scientific record Last month, our team from UBC had the privilege of attending the 2025 NORD Rare Diseases & Orphan Products Breakthrough Summit in Washington, D.C.

The event brought together more than 900 rare disease advocates, patient leaders, researchers, industry professionals, and policymakers. Here’s what we learned, what inspired us, and how we’re channeling momentum into our work for rare-disease clinical research. One of the most striking things about the Summit was the deep integration of patient voices, scientific experts, and regulatory expertise. Panels covered everything from trial innovation to evolving regulatory expectations, and throughout a consistent theme emerged: collaboration is essential to accelerating progress for rare diseases. As Pam Gavin, NORD CEO said, “It’s not enough to invite patients to the table, give them a permanent seat.” From the Community Voice Spotlight sessions to the C-Suite discussions, we were reminded that rare disease research isn’t just about science, it’s also about equity, access, and amplifying the voices of patients and caregivers.

Katie Gillick, rare disease patient advocate said, “The greatest gift you can give a patient is to help them feel heard, understood and believed.” Pam echoed this in her opening comments reminding us that, 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.

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