IRDiRC Funders Constituent Committee (FCC) Member Fondazione Telethon is pleased to announce a new discovery from San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), which reveals the key liver cells driving organ growth and advancing pediatric gene therapy. Published in the Journal of Hepatology, the study reveals that a minority of liver cells in newborns […]
Join the EURORDIS Rare Barometer Panel and Help Shape the Future of Rare Disease Advocacy
EURORDIS-Rare Diseases Europe is calling on people living with a rare or undiagnosed condition, as well as their families, to register for the Rare Barometer panel and take part in an upcoming international survey. This major initiative will explore what enables individuals to live well with a rare or undiagnosed condition, aiming to capture real-world […]
Newborn screening in Mexico and Latin America: present and future
IRDiRC announces the launch of a new paper on “Newborn screening in Mexico and Latin America: present and future”, part of the Newborn Screening Initiative Real-World Applications and Technologies special edition, now fully available in the Rare Disease and Orphan Drugs Journal. “The first newborn screening program (NBS) to be implemented in Latin America was […]
Future Opportunities – IHI Call 7
The Rare Disease Moonshot coalition encourages the rare disease research community to seize the opportunity presented by the Innovative Health Initiative’s call for proposal on Biomarkers, in alignment with the Research Needs Recommendations on Diagnosis In line with its mission of facilitating public private collaborations to address rare disease research “white spots”, the members of […]
Now open: The Public Consultation on the Strategic Research & Innovation Agenda of the future European Rare Diseases Partnership
Under Horizon Europe, the European Commission together with member states and associated countries decided to implement the Rare Diseases Partnership which brings a unique vision that aims at leaving no one behind by supporting robust patient need-led research, by utilising and maximising the power of health and research data, by engaging and coordinating regional, national, […]
Pre-announcement of Joint Transnational Call for proposals “Healthcare of the Future”
The European Partnership on transforming health and care systems (THCS), a Cofund action under the Horizon Europe Programme designed to support coordinated national and regional research and innovation programmes along with capacity building, networking, dissemination and other key activities to support health and care systems transformation, will launch its first Joint Transnational Call (entitled “Healthcare […]
IRDiRC Publications & Recommendations – Copy
[searchandfilter fields=”search,category,post_tag”] Scientific Publications 2025 Regulatory sandboxes: A new frontier for rare disease therapies. Galliano Zanello, Violeta Stoyanova-Beninska, Oxana Iliach, Daniel Scherman, Samantha Parker, David A. Pearce. Rare. 2025. Access the publication here. What matters ethically about how the UDN has changed since its inception? David A. Pearce, Elena-Alexandra Tataru. AMA Journal of Ethics, 2025. Access the publication here. […]
Highlights from the World Orphan Drug Congress 2025
The World Orphan Drug Congress 2025 brought together leading voices in the rare disease community for 3 days of insight, collaboration, and forward-looking discussion. Representatives from the International Rare Diseases Research Consortium (IRDiRC) shared key perspectives on advancing research and improving access to therapies for people living with rare conditions. A highlight of the congress, which took place […]
The Wiedemann-Steiner Syndrome Grant Program 2025
The Wiedemann-Steiner Syndrome Foundation, in partnership with the Orphan Disease Center University of Pennsylvania, is proud to announce three new 2-year research grants to support scientific advancement in Wiedemann-Steiner Syndrome (WSS). WSS is a rare genetic disorder caused by mutations in the KMT2A (MLL) gene, impacting gene expression and leading to significant cognitive and behavioral […]
New Publication: Paving the Way for Scalable, Individualized Therapies in Rare Disease
IRDiRC is proud to announce the publication of the latest article in Therapeutic Advances in Rare Disease: “From Roadmap to a Sustainable End-to-End Individualized Therapy Pathway.” This publication builds on the foundational work of the IRDiRC N-of-1 Task Force, expanding from the initial roadmap to explore how N-of-1 therapies—custom treatments for individuals with ultra-rare genetic conditions—can […]