17th Annual ICORD Meeting: Two Days of Global Collaboration in Rare Diseases
The 17th Annual ICORD Meeting brought together 172 participants from 10 countries, creating a vibrant platform for scientific exchange, stakeholder engagement, and international collaboration in rare diseases. The event featured cutting-edge research presentations, meaningful patient advocacy stories, and dynamic discussions that highlighted global progress toward better diagnostics, therapeutics, and health equity.
The first day opened with a strong scientific program. Dr. Mazhar Adli (Northwestern University, USA) presented his team’s work on functional characterization of human genes using CRISPR and degron technologies, while Dr. Khalid Fakhro (Sidra Medicine, Qatar) highlighted rare disease gene discovery and population genomics shaping precision medicine in the Arab region. Joining online, Dr. Zeynep Tümer (Copenhagen University Hospital) shared her group’s efforts in sustainable genomics and DNA methylation profiling. The second session continued with newborn genomic sequencing approaches presented by Dr. Ahmad Abou Tayoun (Al Jalila Children’s Specialty Hospital, UAE), global updates in neonatal screening from Dr. Peter Schielen (ISNS), and a powerful “One Health” perspective from Dr. Alberto Mantovani (ISS, Italy). Afternoon sessions featured talks by Dr. Tolga Aslan (Genomize) on clinical bioinformatics challenges, followed by an entire block dedicated to gene therapy approaches—ranging from clinical-phase AAV vectors to emerging strategies for metabolic and neurogenetic diseases.
The final session of Day 1 centered on advocacy and lived experiences. Dr. Dave Pearce introduced the Wilhelm Foundation and the Undiagnosed Diseases Network International (UDNI), while Mr. Çağdaş Canbolat of ISMRD gave a deeply personal account of living with galactosialidosis. Young advocate Şeyda Nur Halitoğlu presented her TÜBİTAK-funded mobile tool for children with Angelman syndrome, and Zeynep Çakır shared the founding story and mission of the Rare Diseases Federation of Türkiye—underlining the essential role of civil society in the rare disease ecosystem.
Day 2 continued with high energy and active participation. The RareBoost stand attracted strong interest throughout the meeting and welcomed attendees from across the world. The fifth session featured global policy and economics perspectives: Prof. Georgi Iskrov discussed cost-effectiveness and access to rare disease therapies; Prof. Rumen Stefanov highlighted regional developments spanning Türkiye and Bulgaria; and Dr. Domenica Taruscio emphasized the importance of the new WHO Resolution on rare diseases as a global health priority for equity and inclusion. These exchanges underscored the momentum building worldwide—and in our region—to advance rare disease diagnostics, research, and care.
The 17th ICORD Meeting once again demonstrated the power of bringing researchers, clinicians, advocates, and policymakers together. RareBoost was proud to take part in this international gathering and to contribute to the shared mission of improving the lives of people living with rare and undiagnosed conditions.
