RareBoost’s February Highlights: A Month of science, awareness, and advocacy
February was a month of impactful initiatives for RareBoost, filled with scientific discussions, collaborative events, and advocacy, all leading up to Rare Disease Day, February 28. With a focus on advancing rare disease research and strengthening collaboration, we brought together experts, students, and researchers to explore key challenges and innovations in the field.
We began the month with the Rare Disease Epigenetics Symposium, where scientists, clinicians, and students gathered to discuss the role of epigenetic mechanisms in rare diseases. Distinguished speakers Dr. Siddharth Banka, Dr. Stefan Barakat, and Dr. Serap Erkek shared insights into how epigenetic modifications impact diagnosis, disease progression and treatment potential. The event also featured case presentations demonstrating the real-world clinical applications of epigenetic research, followed by a thought-provoking panel discussion on how to drive advancements in this field to improve patient outcomes.
Building on this momentum, we hosted the Therapeutic Technologies for Rare Diseases Symposium on February 17, as part of the ongoing “Advanced Technologies in Rare Diseases” theme. The symposium highlighted innovative technologies, with speakers discussing organoid-based models, theratyping, and stem cell-based treatments. Dr. Karin Winter de Groot, Dr. Sedat Nizamoğlu, Dr. Özlem Yeşil Çeliktaş, and Dr. Ayşegül Doğan presented their work on different models that hold the potential to transform the search for rare disease treatments.
On February 21, we hosted Assoc. Prof. Salman Kirmani, an Undiagnosed Diseases Network International (UDNI) Champion, for a seminar on delivering genomic services in low-resource settings. Drawing from his work in Pakistan, Dr. Kirmani shared key lessons on how to expand genomic medicine to underserved communities, emphasizing the importance of equitable access to diagnostics and treatment. His presentation sparked discussions on how similar models could be adapted for other regions facing barriers to genetic services.
The month concluded with the Rare Hackathon on Rare Disease Day, a competition that challenged students in life and health sciences to develop solutions for undiagnosed rare disease cases. Teams collaborated on finding diagnostic and therapeutic solutions and presented their findings to a panel of experts. The teams who proposed the best solutions were awarded. This unique experience provided future scientists with hands-on exposure to real-world challenges in rare diseases.
Beyond organizing impactful programs, RareBoost and RUDiP members also actively contributed to major scientific meetings throughout February. At the Aegean Endocrine Diseases and Genetics Symposium, Dr. Gökhan Karakülah and Prof. Ahmet Okay Çağlayan delivered presentations, while Prof. Uğur Özbek moderated a session. At the 9th Congress on Cerebral Palsy (CP) and Developmental Disorders, PhD student Ayça Yiğit shared insights on CP-related genetic findings, with Prof. Özbek co-moderating a session on CP genetics. Prof. Özbek also attended the ISTiSNA Project Future Vision Meeting at Acıbadem University in Istanbul, where the outputs of the İSTiSNA Platform Project were shared and the next steps were discussed.
On February 27, Prof. Özbek took part in the “Rare Diseases in Family Year: Uniting for Healthy Generations” panel in Ankara, organized by the Rare Diseases Federation. This event brought together experts, policymakers, and patient advocates to discuss how interdisciplinary collaboration can strengthen rare disease care and advocacy efforts.
With a full month of scientific exchange and engagement, we continue to drive progress in rare disease research, diagnosis, and awareness.
A heartfelt thank you to all the speakers, participants, organizers, and partners who contributed to these impactful events. Stay connected for more updates as we continue our mission to advance rare disease research and innovation!
