Boosting the Rare Disease research and innovation capacity of the Izmir Biomedicine and Genome Center

Informazioni relative al progetto

RareBoost

ID dell’accordo di sovvenzione: 952346

DOI

10.3030/952346

Data della firma CE 10 Giugno 2020

Data di avvio 1 Ottobre 2020

Data di completamento 30 Settembre 2027

Finanziato da

• Establishing ‚ERA Chairs’

Costo totale

€ 2 499 125,00

Contributo UE

€ 2 499 125,00

Coordinato da

IZMIR BIYOTIP VE GENOM MERKEZI
Türkiye

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Pubblicazioni

Peer reviewed articles (19)

A Novel Missense Variant in Actin Binding Domain of MYH7 Is Associated With Left Ventricular Noncompaction

Autori: Mahdi Hesaraki, Ugur Bora, Sara Pahlavan, Najmeh Salehi, Seyed Ahmad Mousavi, Maryam Barekat, Seyed Javad Rasouli, Hossein Baharvand, Gunes Ozhan, Mehdi Totonchi
Pubblicato in: Frontiers in Cardiovascular Medicine, Numero 9, 2022, ISSN 2297-055X
Editore: Frontiers Media S.A
DOI: 10.3389/fcvm.2022.839862

An integrated platform for liquid handling and cell imaging in life science applications

Autori: Meryem Beyza Avci, Furkan Kocer, Fatma Kurul, Arif E. Cetin
Pubblicato in: Nature Communications, Numero 16, 2025, Pagina/e 11521, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-025-66269-8

Grange‐Like Phenotype Associated With an <scp> <i>RNF213</i> </scp> Pathogenic Variant: Expanding the Vasculopathy Spectrum

Autori: Serife Ozturk Yilmaz, Ayca Yigit, Sevcan Hatipoglu, Semra Gursoy, Aytac Gulcu, Tuncer Turhan, Mert Pekerbas, Alper Soylu, Ugur Ozbek, Ozlem Giray Bozkaya
Pubblicato in: American Journal of Medical Genetics Part A, Numero 200, 2026, Pagina/e 1923-1928, ISSN 1552-4825
Editore: Wiley-Liss Inc
DOI: 10.1002/ajmg.a.70158

A Rahman Syndrome mutation in histone H1.4 disrupts chromatin compaction and phase separation

Autori: Ramachandran Boopathi, Isabel Garcia-Saez, Serhan Turunç, Imtiaz Nisar Lone, Ashok Kumar, Abed Alkarem Abu Alhaija, Jeffrey J. Hayes, Jan Bednar, Muhammed Kasim Diril, Dimitar Iliev, Anastas Gospodinov, Aline Le Roy, Dimitrios Skoufias, Dimitar Angelov, Ali Hamiche, Seyit Kale, Stefan Dimitrov, Carlo Petosa
Pubblicato in: Nature Communications, Numero 2026 May 22, 2026, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-026-73046-8

Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia

Autori: Seval Kılıç, Kerem Esmen, Jean-Loup Méreaux, Ayşe Miray Oto, Tansu Bilge Kose, Melike Sever-Bahcekapili, Emine Eren-Koçak, Şeyda Demir, A. Semra Hız, Erum Afzal, Zahra Firoozfar, Gökhan Karakülah, H. Alper Bagriyanik, Léna Guillot-Noel, Giulia Coarelli, Henry Houlden, Stephanie Efthymiou, Alexandra Durr, Mehmet Öztürk, M. Kasim Diril
Pubblicato in: Genes, Numero 17, 2026, Pagina/e 660, ISSN 2073-4425
Editore: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes17060660

Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project

Autori: Ayca Yigit, Mert Pekerbas, Baris Salman, Kutay Bulut, Emre Ozzeybek, Mehmet Mert Topaloglu, Burcu Akman, Ravza Nur Yildirim, Sinem Aktug, Tugce Batur, null null, Ahmet Okay Caglayan, Aliye Kubra Unal, Inci Yaprak, Beste Ozkalay, Caglar Celebi, Evin Iscan, Miray Sevinin, Mehmet Baysan, Nese Atabey, Sanem Tercan Avci, Yavuz Oktay, Ayse Ipek Polat, Ayse Semra Hiz, Uluc Yis, Huseyin Bahadır Senol, Mu
Pubblicato in: European Journal of Human Genetics, Numero 09 July 2026, 2026, ISSN 1018-4813
Editore: Natue Publishing Group
DOI: 10.1038/s41431-026-02177-9

Novel anti-VEGF scFv antibodies with superior in vitro and in vivo activities

Autori: Gulcin Cakan-Akdogan, Ozlem Erez, Ceren Ozer, Ebru Onal, Olcay Mert, Seyda Gullu, Merve Arslan, Mehmet Ender Avci, Mehmet Inan, Sibel Kalyoncu
Pubblicato in: Scientific Reports, Numero 15, 2025, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-025-11406-y

Generation of albino C57BL/6J mice by CRISPR embryo editing of the mouse tyrosinase locus

Autori: M. Kasim Diril, Kerem Esmen, Tugba Sehitogullari, Gizem Öztürk
Pubblicato in: Journal of Genetics, Numero 104, 2025, Pagina/e 7, ISSN 0973-7731
Editore: Springer Science and Business Media LLC
DOI: 10.1007/s12041-025-01493-1

Intrinsic cellular heterogeneity directs divergent epithelial‐to‐mesenchymal transition outcomes

Autori: Esin Ozkuru Sekeroglu, Şeyma N. Yıldız, Seray Yetkin, Gkamze Impraimoglou Kafaz, Burcu Sengez, Ozlem Erez, Esra Ersöz Gülseven, Gulcin Cakan‐Akdogan, Tugce Batur, Hani Alotaibi
Pubblicato in: The FEBS Journal, Numero 17 February 2026, 2026, ISSN 1742-464X
Editore: Blackwell Publishing Inc.
DOI: 10.1111/febs.70458

Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations

Autori: Burcu Akman, Semra Gürsoy, Pınar Gençpınar, Ayşe İpek Polat, Ayşe Semra Hız, Yavuz Oktay, Tahsin Stefan Barakat, Uğur Özbek, Serap Erkek-Ozhan
Pubblicato in: Frontiers in Cell and Developmental Biology, Numero 14, 2026, Pagina/e 1777625, ISSN 2296-634X
Editore: Frontiers Media SA
DOI: 10.3389/fcell.2026.1777625

Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2

Autori: Suzan Süncak, Beyhan Tüysüz, Ravza Nur Yıldırım, Semra Gürsoy, Dilek Uludağ Alkaya, Ayhan Abacı, Emre Özzeybek, Tuğçe Batur, İnci Yaprak, Evin İşcan, Özlem Giray Bozkaya
Pubblicato in: Journal of Human Genetics, Numero 71, 2026, Pagina/e 195-202, ISSN 1434-5161
Editore: Springer Verlag
DOI: 10.1038/s10038-025-01426-x

Biobanks and Their Contribution to the Field of Rare Diseases: Current Landscape, Challenges, and Future Directions

Autori: Sanem Tercan Avcı, Çağlar Çelebi, Beste Özkalay, Uğur Özbek, Neşe Atabey
Pubblicato in: Inherited Metabolic Disorders and Nutrition, Numero 2025;1, 2025, Pagina/e 43-52, ISSN 3108-4672
Editore: Galenos Yayinevi
DOI: 10.4274/imdn.galenos.2025.2025-6

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches

Autori: Ayca Yigit, Ozlem Akgun-Dogan, Zeynep Ozkeserli, Gunseli Bayram Akcapınar, Semih Ayta, Pinar Gencpinar, Hulya Maras Genc, Busra Kutlubay, Bulent Kara, Hatice Gulhan Sozen, Nihat Bugra Agaoglu, Ozkan Ozdemir, Kaya Bilguvar, Ugur Ozbek
Pubblicato in: Frontiers in Neurology, Numero 17, 2026, Pagina/e 7–14, ISSN 1664-2295
Editore: Frontiers Research Foundation
DOI: 10.3389/fneur.2026.1742186

A plasmonic biosensor pre-diagnostic tool for Familial Mediterranean Fever

Autori: Idil Karaca Acari, Fatma Kurul, Meryem Beyza Avci, S. Deniz Yasar, Seda Nur Topkaya, Ceyhun Açarı, Erbil Ünsal, Balahan Makay, Süleyman Köytepe, Burhan Ateş, İsmet Yilmaz, Turgay Seçkin, Arif E. Cetin
Pubblicato in: Nature Communications, Numero 15, 2024, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-024-52961-8

The Rare Hackathon: An extracurricular educational event to promote rare disease awareness among students in medicine and life sciences

Autori: Begum Utz, Emine Eylul Taskin, Ayca Yigit, Emre Ozzeybek, Kutay Bulut, Ece Sonmezler, Aykut Kuruoglu, Aliye Kubra Unal, Noor Fatima, Pinar Gencpinar, Duygu Sag, Yavuz Oktay, Nur Arslan, Ayse Semra Hiz, Nese Atabey, Ugur Ozbek
Pubblicato in: Rare, Numero 3, 2026, Pagina/e 100106, ISSN 2950-0087
Editore: Elsevier BV
DOI: 10.1016/j.rare.2025.100106

A novel <i>Ifnar1</i> knockout mouse model generated by CRISPR/Cas9 genome editing

Autori: M. Kasim Diril, Kerem Esmen
Pubblicato in: The EuroBiotech Journal, Numero 10, 2026, Pagina/e 7-14, ISSN 2564-615X
Editore: Walter de Gruyter GmbH
DOI: 10.2478/ebtj-2026-0002

A zebrafish model for studying the mechanisms of newborn hyperbilirubinemia and bilirubin-induced neurological damage

Autori: Metehan Guzelkaya, Ebru Onal, Emine Gelinci, Abdullah Kumral, Gulcin Cakan-Akdogan
Pubblicato in: Frontiers in Cell and Developmental Biology, Numero 11, 2023, ISSN 2296-634X
Editore: Frontiers Media S.A
DOI: 10.3389/fcell.2023.1275414

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed

Autori: Silvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, Céline Huber, Elsa Ferriere, Benjamin Fournier, Morgane Cheminant, Martin Castelle, Paul Bastard, Nicolas Noel, Katia Bourdic, Capucine Picard, Despina Moshous, Virginie Courteille, Nizar Mahlaoui, Jacinta Bustamante, Gislène Collobert, Cyril Mignot, Boris Keren, Séverine Drunat, Sophie Rondeau, Alexia Rabec, Alicia Besson, Nicolas Chatr
Pubblicato in: Genetics in Medicine, Numero 2026 Jun 19, 2026, Pagina/e 102632, ISSN 1098-3600
Editore: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2026.102632

Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas

Autori: Chang Li, E. Zeynep Erson-Omay, Yavuz Koksal, Ekrem Unal, Buket Kara, Kaya Bilguvar, Yahya Paksoy, Nimetullah Alper Durmus, Ali Kurtsoy, Huseyin Per, John Rosendahl Østergaard, Murat Günel, Ahmet Okay Çağlayan
Pubblicato in: iScience, Numero 29, 2026, Pagina/e 115029, ISSN 2589-0042
Editore: Elsevier BV
DOI: 10.1016/j.isci.2026.115029

Non-peer reviewed articles (1)

Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye

Autori: Sinem Durmus, Emrah Yucesan, Sinem Aktug, Begum Utz, Ahmet Okay Caglayan, Pinar Gencpinar, Cagatay Günay, Yavuz Oktay, Ravza Nur Yildirim, Ayca Yigit, Ugur Ozbek
Pubblicato in: Frontiers in Public Health, Numero 12, 2025, ISSN 2296-2565
Editore: Frontiers Media SA
DOI: 10.3389/fpubh.2024.1501942