| | | | Welcome to RareBoost Quarterly Newsletter 4th Edition!
Dear colleagues, After a short summer break, our seminars and events are back in full swing. We are delighted to share that our Rare Hackathon, held earlier this year on Rare Disease Day, has now been published as an article in Rare journal. We congratulate this achievement of the RareBoost team, together with the students and all participants who made this unique event possible. We began the new season with the ICGEB Advanced Training Course on genome editing and assisted reproductive technologies in September, followed by two engaging seminars. Looking ahead, our calendar is filled with exciting activities, culminating in 17th Annual ICORD Meeting, to be held in Izmir on November 14-16. The ICORD meeting will gather experts, researchers, healthcare professionals, patient advocates, and policymakers from around the world to advance rare disease research and policy. Abstract submission is open until October 10. We warmly invite you to contribute. For details, please visit www.icord2025.com. Thank you for staying connected and for your continued support in advancing rare disease research and awareness. We look forward to welcoming you at our upcoming events.
RareBoost Team | | | |
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| | | | Highlights from RareBoost | | | |
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The RareBoost External Seminar Series is held on the last Friday of each month, bringing together leading experts in rare diseases. On September 19, we hosted Dr. Andrés Muro, Mouse Molecular Genetics Group Leader at International Centre for Genetic Engineering and Biotechnology in Italy, who delivered an inspiring talk titled: “Applications of CRISPR/Cas9 Technology for the Treatment of Rare Diseases.”
On September 23, we welcomed another distinguished expert, Prof. Simon Rayner, from Oslo University Hospital, Norway. Prof. Rayner presented a seminar titled: “Investigating the Role of the Non-Coding Genome in Ethnic Diversity.”
These two seminars will be uploaded to RareBoost’s YouTube channel soon.
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RareBoost also organizes training seminars to increase the research capacity of the IBG researchers. On July 9th, we hosted experts from Massive Bioinformatics for a talk on Oxford Nanopore Technologies in Human Genetics and Multiomics at IBG. Speakers focused on the applications of Oxford Nanopore Technologies (ONT) in the field of human genomics and the technical advantages it offers. Also, On September 11, RareBost hosted Dr. Marvan Nashabat, who gave a seminar titled “Unraveling the connection between SPN1-related muscular dystrophy, SMN instability, and autophagy dysfunction”. | |
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| | | | Rare and Undiagnosed Disease Patient Advisory Board: After a summer break, the 16th Patient Advisory Board meeting was held on September 10, 2025.
Until August 2025, 118 family data have been analysed and 52 cases have been resolved using the in-house genome analysis pipeline developed at the Özbek Human Genetics Laboratory. 22 families were found to carry pathogenic/likely pathogenic (P/LP) variants, while 30 families presented variants of uncertain significance (VUS).
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| | | | Teaching and Training Activities | | | |
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| | | On July 10th, we hosted a session titled “Decoding Bioinformatics Visualizations: A Practical Guide to Understand Common Scientific Figures” delivered by Dr. Tutku Yaraş, Computational Genomicist. The session introduced the basics of interpreting and designing data visualizations in life sciences and explained how commonly used figures in bioinformatics (e.g.heatmaps, volcano plots, PCA plots) can be understood. The recording of the session can be viewed on the RareBoost YouTube channel. | |
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On September 9th, RareBoost and Turkish Biochemical Society (TBS) Academy hosted a joint workshop titled ‘Getting the Most out of a Conference – From Passive to Proactive: Conference Survival Skills for Young Scientists’. At this interactive workshop, participants engaged in practical activities, discussions, and scenario-based exercises designed to build awareness, intention, and communication skills before, during, and after a conference.
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ICGEB Training Course at IBG IBG hosted the ICGEB Training Course “Recent Advances in Genome Editing and Assisted Reproductive Technologies (ART) in Laboratory Animals” from 15–19 September 2025. The course welcomed young researchers and professionals from across Europe, Asia, and Africa for a week of lectures and hands-on training. Covering CRISPR/Cas systems, transgenic model production, embryology, and assisted reproductive technologies, the program combined theory with practical sessions led by expert scientists, providing participants with skills directly applicable to their research.
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IBG-RARE Club launched a new seminar series this summer. The first meeting, “Approach to Seizures in Pediatric Cases–Family Information Session” was held on July 4 at IBG. Families and expert clinicians came together for the event at IBG. | |
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| | | | IBG-RARE Club proudly supports awareness campaigns for various rare diseases by sharing impactful stories and informative content on their social media. Follow them on social media: Instagram. | | | |
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October 8: Rare and Undiagnosed Disease Patient Advisory Board October 9: IBG T&T Training Session: Effective Communication Skills and Conflict Management October 22: T&T Training Session with Prof. Fahri Saatçioğlu: The Science of Breath - Practical knowledge for health and wellness November 13: In the context of the 3rd National Rare Diseases Symposium, a course titled ‘Genomic Approaches in Rare Diseases with Case Studies’ is being organized. For more information and course program, please visit: https://www.icord2025.com/course November 14: 3rd National Rare Diseases Symposium will be held at the DEU Sabancı Cultural Center, before the ICORD meeting commences. November 14-16: 17th ICORD Meeting will take place from November 14-16 at the DEU Sabancı Cultural Center in Izmir, Turkey. Abstract submission is open until October 10th. For more information, please visit: icord2025.com | | | |
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| | | | Highlights from the Rare and Undiagnosed Diseases Platform (IBG-RUDiP) | | | |
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Novel anti-VEGF scFv antibodies with superior in vitro and in vivo activities.
Scientific Reports, July 2025
Cakan-Akdogan G, Erez O, Ozer C, Onal E, Mert O, Gullu S, Arslan M, Avci ME, Inan M, Kalyoncu S.
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| | Fusion transcripts landscape in hepatocellular carcinoma and potential impact on the expression of fusion partners
RNA Biology, July 2025
Öztemur Islakoğlu Y, Korhan P, Binokay L, Keleş B, Bağırsakçı E, Uludağ Taşçıoğlu M, Şamdancı E, Karakülah G, Atabey N.
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| | | | | An NADH-controlled gatekeeper of ATP synthase
Molecular Cell, July 2025
Schildhauer et al. including RUDiP member Dr. Ezgi Karaca | |
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The Rare Hackathon: An extracurricular educational event to promote rare disease awareness among students in medicine and life sciences.
Rare, September 2025
Utz B, Taskin EE, Yigit A, Ozzeybek E, Bulut K, Sonmezler E, Kuruoglu A, Unal AK, Fatima N, Gencpinar P, Sag D, Oktay Y, Arslan N, Hiz AS, Atabey N, Ozbek U.
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| | | | Successful Funding Applications | | | |
| | Prof. Dr. Neşe Atabey
TRANSCAN-3 Joint Transnational Call 2024 Project title: METRICs – Combination Therapies Against Cancer: New Opportunities for Translational Research
TUBITAK 1001 - Scientific and Technological Research Projects Support Program Grant Recipients:
Doç. Dr. Duygu Sağ Project title: Investigation of the molecular mechanism of TRAIL-mediated macrophage activation in humans and its effects on NK cells Dr. Gerhard Wingender
Project title: The regulation of TRAIL-mediated cytotoxicity on human gd T cells and its potential role in colorectal and gastric cancers Dr. Tuğçe Batur
Project title: BioID2-assisted proteomic mapping of drug resistance-associated receptor kinases in neuroblastoma Doç. Dr. Sinan Güven
Project title: Development of disease modeling and microphysiological drug testing platform with induced pluripotent stem cell-based corneal organoids Dr. Öğr. Üyesi Sibel Kalyoncu
Project title: Development of innovative dual-specific antibodies using single B cell technology Dr. Müge ÖZKAN
Project title: Fresh look to Idiopathic Pulmonary Fibrosis: the importance of short chain fatty acids in inducing anti-fibrotic lung microenvironment via CD8+ T cells TÜSEB - 2025-B-01 Group B R&D Project Call Grant Recipients:
Dr. Sibel Kalyoncu Uzunlar Project title: Development, In Silico Optimization, Production, and In Vivo/In Vitro Characterization of Therapeutic Anti-PD-1 Nanocores
Assoc. Prof. Sinan Güven Project title: Development of a Tear Drop Based on Organoid Secretome
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| | | | Postdoctoral Opportunity via CoCirculation3 MSCA Fellowship SchemeThe Ozbek Lab of Human Genetics at Izmir Biomedicine and Genome Center (IBG) is now accepting applications for postdoctoral researchers with expertise in computational modeling and transcriptomics to be recruited through the CoCirculation3 Project, funded under the Horizon Europe MSCA COFUND scheme and implemented by TÜBİTAK. For more information and to apply, click here. | | | |
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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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