News

Call for new members for the Diagnostics Scientific Committee

IRDiRC Diagnostic Scientific Committee (DSC) unites clinicians and specialists in genetics, genomics, bioinformatics, molecular diagnostics, and biochemistry to help reduce the diagnostic odyssey for the patients living with rare diseases. DSC plays a key role in identifying the barriers related to gene discovery and diagnosis and actively works to overcome these challenges by developing strategies to […]

Read More

IRDiRC at World Orphan Drug Congress Europe 2025

The World Orphan Drug Congress Europe is the largest and most established event globally for orphan drugs and rare diseases. With over 150 speakers already confirmed, WODC Europe connects global experts, industry leaders in the orphan drug space, and patient advocates, that drive transformative change in the rare diseases ecosystem. We are pleased to announce […]

Read More

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 […]

Read More

IRDiRC Interdisciplinary Scientific Committee: Call for New Members 

IRDiRC has four Scientific Committees: Diagnostics, Therapies, Interdisciplinary, Regulatory. The Interdisciplinary Scientific Committee (ISC) is a multi-stakeholder, multi-disciplinary group of experts working on rare disease (RD) data sharing, ontologies, natural history, biobanks, registries, ethical and societal aspects of rare diseases.  ISC would like to broaden the committee membership, to represent the worldwide rare diseases community in its […]

Read More

IRDiRC at the International Conference of China

IRDiRC was represented at the International Conference of China by Dr. David Pearce, IRDiRC Chair, and Dr. Gareth Baynam (Interdisciplinary Scientific Committee Chair). The meeting was organized by CHARD, and took place on 23-25 May in Haikou, China. Dr. Pearce gave a talk on the “Changing landscape of rare and undiagnosed diseases: More diagnostics and […]

Read More

New Funding Models Toolbox

The IRDiRC Funding Models for Rare Diseases Research Toolbox is designed to support patient advocacy organizations in gaining a clearer understanding of the roles, objectives, and funding strategies employed by various types of funders. This toolbox serves as a companion resource to the IRDiRC manuscript titled “The Complexity of Funding Rare Disease Research: An IRDiRC Assessment of […]

Read More

New treatment against Duchenne Muscular Dystrophy

On the 25th of April, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) gave givinostat (Duvyzat), a novel histone deacetylase (HDAC) inhibitor, a positive opinion. The recommendation is for granting a conditional marketing authorisation for givinostat for the treatment of ambulant patients with Duchenne Muscular Dystrophy (DMD) aged six […]

Read More

IRDiRC at World Orphan Drug Congress USA

“Breaking down silos and fostering collaboration to help rare disease patients” – The World Orphan Drug Congress convenes top pharmaceutical and biotech companies, public and private funders, patient advocacy groups and many more. IRDiRC is delighted to confirm the participation of Dr. David Pearce at the WODC USA during the 3 congress days, in the […]

Read More