| | | | Welcome to RareBoost Quarterly Newsletter 7th Edition!
Dear colleagues, As we wrap up the second quarter of 2026, we are pleased to share another edition of the RareBoost Newsletter. This issue highlights the many activities that brought our community together over the past few months, along with updates from the Rare and Undiagnosed Diseases Platform, recent publications, funding successes, and upcoming events. Be sure to mark your calendars for the European Network Conference on Chromatinopathies (EU-CHROMNet), taking place on 25–27 November 2026, and follow our channels for registration and abstract submission updates. Thank you to all our colleagues and partners for your continued support and dedication. As we enter the summer season, we wish you a relaxing and enjoyable summer and look forward to reconnecting in the months ahead. RareBoost Team
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| | | | Highlights from RareBoost | | | |
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On June 23, we were pleased to welcome Prof. Dr. Şirin Güven, Head of the TÜSEB Türkiye Maternity, Child and Adolescent Health Institute (TAÇESE), together with Özlem Köksal from TAÇESE, Dr. Ayşegül Altınbaş, faculty member at Altınbaş University and Chair of the Board of the Herdem Çare Association, and Prof. Dr. Tunç Fışgın, Board Member of the Herdem Çare Association, to the Izmir Biomedicine and Genome Center (IBG). During the visit, we introduced IBG’s research infrastructure, the RareBoost Project, and the Undiagnosed Rare Diseases Platform. The program also provided an opportunity to exchange ideas on rare disease diagnosis, genomic research, and innovative therapeutic approaches.
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RareBoost Retreat
RareBoost held its first retreat on 16-17 April 2026 in DESEM. The program included PI seminars, 5-minute project talks, poster presentations and a trivia challenge. The participants joined discussions to reflect on RareBoost, exchanged ideas on rare disease research, and discussed how to move IBG’s rare disease research forward together.
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RareBoost Seminar Series
A RareBoost Seminar was held on June 10th, by Prof. Stephen C. Pak, PhD from Washington University, with a presentation titled “Advancing Rare Disease Diagnosis Using Model Organisms”. The full seminar recording is available on the RareBoost YouTube channel:
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On June 15th, the RareBoost project, in collaboration with Dokuz Eylül University Medical School and the Health Sciences Institute, hosted Prof. Shrikant Mane from Yale School of Medicine for a special seminar at IBG. As the Director of the Yale Center for Genome Analysis, Dr. Mane shared his experiences on genomic approaches to diagnose undiagnosed diseases.
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On 25–27 June 2026, Prof. Uğur Özbek, Prof. Esra Erdal, Prof. Ahmet Okay Çağlayan and Dr. Gülçin Çakan attended and presented at the 11th Erciyes Medical Genetics Congress, held in Edirne, Türkiye. RareBoost researchers Dr. Mehmet Mert Topaloğlu and Ayça Yiğit also participated and gave oral presentations.
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| | | | | | Between June 13–16, European Society of Human Genetics Conference took place in Gothenburg, Sweden, and many members of the RareBoost team joined thousands of genetics experts worldwide to share knowledge, spark collaborations, and showcase our latest research. Dr. Ozbek also attended the ERDERA Diagnostic Working Group and Genome of Europe meetings held in Gothenburg, adjacent to the ESHG meeting. | | | |
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Prof. Dr. Uğur Özbek and Prof. Dr. Neşe Atabey attended the 7th GenEcoTECH Summit, organized by the EcoGenesis Genetics and Bioengineering Club of İzmir University of Economics, on Saturday, May 9. At the summit, Dr. Atabey gave a talk on how the metabolic tumor microenvironment affects cellular signaling and metastasis development, while Dr. Özbek gave a talk on current developments and research solutions in the field of rare and undiagnosed diseases.
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Prof. Dr. Uğur Özbek, Prof. Dr. Gökhan Karakülah and Prof. Dr. Neşe Ataybey presented their work in the field of rare diseases at the V. International Health Sciences Student Congress (SAGOK 2026), hosted by İzmir Democracy University. In the panel titled “Innovative Practices in the Diagnosis, Treatment, and Follow-up of Rare and Undiagnosed Diseases” chaired by Prof. Dr. Gülendam Hakverdioğlu and Prof. Dr. Neşe Atabey, Prof. Dr. Uğur Özbek delivered a talk titled “Current Developments and International Collaboration” while Prof. Dr. Gökhan Karakülah presented “Biological Data Interpretation from Genome to Clinic.” Prof. Dr. Neşe Atabey also contributed to the panel with her talk titled “Biobanks and Artificial Intelligence Solutions.”s.
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In April, Prof. Uğur Özbek and Prof. Pınar Gençpınar attended the 3rd Neurogenetics and Neurometabolic Disorders Congress, organized by the Neurogenetics and Neurometabolic Disorders Working Group of the Turkish Neurological Society. Prof. Uğur Özbek delivered a presentation titled “Holistic Genomic Approaches in Diagnostic Processes for Rare and Undiagnosed Diseases” in the “Neurogenetic Updates” session. Within the scope of the congress, which focused on rare diseases, a “Rare Diseases School” was also held. | | | |
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We participated in the ERDERA WP23 NMG Workshop in Riga (June 9–10). Eylül Taşkın represented NMG Türkiye (IBG) at the event. Together with NMG representatives from 28 counties, we discussed rare disease registries, shared best practices, and explored challenges and future solutions. We also gained valuable insights into the ERDERA Data Services Hub and the JARDiN initiative.
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| | | | | | Rare and Undiagnosed Diseases Patient Advisory Board Over the past three months, the Rare and Undiagnosed Patient Advisory Board convened twice (in April and June), during which 14 patient cases were reviewed. Clinicians from Balıkesir University, Ege University, Dokuz Eylül University, İzmir City Hospital, Selçuk University, and Manisa Celal Bayar University participated in multidisciplinary discussions on unresolved rare disease cases. Most cases had undergone prior genetic testing without reaching a definitive molecular diagnosis or required further interpretation of identified variants. The meetings focused on discussing additional diagnostic strategies, including genomic data reanalysis, whole-genome sequencing, functional studies, and other complementary investigations where appropriate.
The next board meeting is scheduled for September 2, 2026. | | | |
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| | | | | | Teaching and Training Activities | | | |
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A RareBoost–IBG Teaching & Training was held on April 7, 2026, featuring Assoc. Prof. Eva Szegezdi, from University of Galway, Ireland. Dr. Szegezdi provided an overview of the development and practical application of research ethics in human studies.The full seminar recording is available on RareBoost’s YouTube channel. | |
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On May 14–15, 2026, TÜBİTAK-supported Interactive Scientific Research Project Proposal Writing Training was held at IBG. The training course provided training to graduate students and young academics studying/working in the health sciences and basic sciences on project types, project writing, and execution processes through case studies, and to provide experience in writing and executing qualified, applicable, and original TÜBİTAK research project proposals.
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| | | | IBG RARE- Rare and Undiagnosed Diseases Research and Communication Club | | | |
| | IBG-RARE Club proudly supports awareness campaigns for various rare diseases by sharing impactful stories and informative content on its social media. Follow them on social media: Instagram. | | | |
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On April 15, Neurofibromatozis Type-1 (NF1) Adaptive Clinical Guideline Development Workshop was held at IBG. NF1 is a rare genetic disorder that affects multiple organ systems. Although classified as a rare disease, NF1 affects a significant number of individuals in Türkiye. Prof. Dr. Gençpınar, who is among the organizers of the workshop, highlighted that a comprehensive guideline for the clinical follow-up of NF1 patients has long been needed. Thus, this initiative was launched to develop such a guideline, bringing together many experts from different clinical fields and disciplines. The workshop brought together 45 experts to discuss the key aspects of NF1; from diagnosis and follow-up to treatment and long-term management. This workshop created a strong foundation for developing a multidisciplinary and practical NF1 clinical guideline tailored to Türkiye. The guideline will be shared with expert clinicians once completed.
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21 July 2026: Research Seminar by Dr. Sadık Barış Salman "Understanding the Genetic Basis of Epilepsy Through Genomic Approaches" 2 September 2026: Rare and Undiagnosed Diseases Patient Advisory Board Meeting 25–27 November 2026: European Network Conference on Chromatinopathies (EU-CHROMNet) | | | |
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| | | | Highlights from the Rare and Undiagnosed Diseases Platform (IBG-RUDiP) | | | |
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Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
Cuinat S et al including Akman B, Yıldırım RN. (2026) Genetics in Medicine doi: 10.1016/j.gim.2026.102632 | |
| | Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia. Kılıç, S., Esmen, K., Méreaux, J.-L., Oto, A. M., Kose, T. B., Sever-Bahcekapili, M., Eren-Koçak, E., Demir, Ş., Hız, A. S., Afzal, E., Firoozfar, Z., Karakülah, G., Bagriyanik, H. A., Guillot-Noel, L., Coarelli, G., Houlden, H., Efthymiou, S., Durr, A., Öztürk, M., & Diril, M. K. (2026) Genes
https://doi.org/10.3390/genes17060660
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| | Grange-Like Phenotype Associated With an RNF213 Pathogenic Variant: Expanding the Vasculopathy Spectrum. Yilmaz SO, Yigit A, Hatipoglu S, Gursoy S, Gulcu A, Turhan T, Pekerbas M, Soylu A, Ozbek U, Bozkaya OG. (2026) The American Journal of Medical Genetics - Part A
doi: 10.1002/ajmg.a.70158. | |
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| | | | | A Rahman Syndrome mutation in histone H1.4 disrupts chromatin compaction and phase separation. Boopathi R, Garcia-Saez I, Turunç S, Lone IN, Kumar A, Abu Alhaija AA, Hayes JJ, Bednar J, Diril MK, Iliev D, Gospodinov A, Le Roy A, Skoufias D, Angelov D, Hamiche A, Kale S, Dimitrov S, Petosa C. (2026) Nature Communications doi: 10.1038/s41467-026-73046-8. | |
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Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations. Akman B, Gürsoy S, Gençpınar P, Polat Aİ, Hız AS, Oktay Y, Barakat TS, Özbek U and Erkek-Ozhan S Front. Cell Dev. Biol.
doi: 10.3389/fcell.2026.1777625
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| | | | Successful Funding Applications | | | |
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Dr. Sinan Güven “Collaborative Network for Rare Ocular Surface Disorders” Funding Agency: COST Action Ayça Yiğit “Identification of a Novel Glycogen Storage Disease Associated with PHKG1 Mutations: Functional Characterization and Disease Model Development” Funding Agency: TÜSEB R&D Support Program for PhD Students
Ezgi Batu “Targeting Splicing Defects in Congenital Glycosylation Disorders with Antisense Oligonucleotides” Funding Agency: TÜSEB R&D Support Program for Master’s Students | | | |
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| | | | Visit our website and follow us on social media to stay up to date with our activities. | | | |
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