Human Genetics

Principal Investigator: Prof. Dr. Uğur ÖZBEK

Prof. Özbek’s research aims to delineate the genetic and molecular mechanisms underlying hereditary cancers, hematological malignancies, and rare and undiagnosed diseases. The team uses genomic analysis tools such as whole genome sequencing, whole exome sequencing and RNA sequencing to uncover the causative genes behind rare diseases, particularly in previously undiagnosed cases. Through deep phenotyping combined with genomic analysis, the team aims to identify and characterize the genetic causes of diseases. Prof. Ozbek and his team collaborates closely with the members of the ‘Rare and Undiagnosed Diseases Platform - RUDiP’, leveraging its multidisciplinary expertise to resolve undiagnosed cases and advance research into rare diseases. For more information about RUDiP, you may visit RareBoost project website: www.rareboost.ibg.edu.tr

Research Areas

• Human genetics
• Genomics / Genomic sequencing (whole genome, whole exome and RNA sequencing)
• Bioinformatics
• Rare and undiagnosed diseases
• Hematologic malignancies
• Familial and Rare cancers
• Genetic neurodevelopmental disorders
• Disease epigenetics

Publications

• Chekroun I, Shenbagam S, Almarri MA, Mokrab Y, Uddin M, Alkhnbashi OS, Zaki MS, Najmabadi H, Kahrizi K, Fakhro KA, Almontashiri NAM, Ali FR, Özbek U, Reversade B, Alkuraya FS, Alsheikh-Ali A, Abou Tayoun AN. Genomics of rare diseases in the Greater Middle East. Nat Genet. 2025 Feb 3. doi: 10.1038/s41588-025-02075-8. Epub ahead of print. PMID: 39901015.
• Baldovino S, Sciascia S, Carta C, Salvatore M, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, la Paz EMC, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Pagava K, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Roccatello D, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions. Front Public Health. 2025 Feb 26;13:1510818. doi: 10.3389/fpubh.2025.1510818. PMID: 40078755; PMCID: PMC11897027.
• Durmus S, Yucesan E, Aktug S, Utz B, Caglayan AO, Gencpinar P, Günay C, Oktay Y, Yildirim RN, Yigit A, Ozbek U. Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye. Front Public Health. 2025 Jan 15;12:1501942. doi: 10.3389/fpubh.2024.1501942. PMID: 39911789; PMCID: PMC11795313.
• Onder G, Unal B, Ozdemir O, Amanvermez U, Elmas MA, Gokbayrak M, Ugurtas C, Cine N, Kalay İ, Ozbek U, Ng OH, Agaoglu NB. Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition. Mol Genet Genomics. 2025 Apr 24;300(1):45. doi: 10.1007/s00438-025-02250-w. PMID: 40274629.
• Erbilgin Y, Firtina S, Kirat E, Khodzhaev K, Karakas Z, Ünüvar A, Ocak S, Celkan TT, Zengin E, Aylan Gelen S, Yildirmak ZY, Toluk O, Hatirnaz Ng O, Ozbek U, Sayitoglu M. Status of IKZF1 Deletions in Diagnose and Relapsed Pediatric B-ALL Patients. Biochem Genet. 2025 Jan 9. doi: 10.1007/s10528-024-11018-7. Epub ahead of print. PMID: 39786526.
• Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD, Wirta V, Lindstrand A, Buske OJ, Cederroth M, Nordgren A. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. PMID: 39433890; PMCID: PMC12198426.

Projects

• EU Horizon 2020 ERA Chairs (RareBoost) project (grant agreement number: 952346): Boosting the Rare Disease research and innovation capacity of the Izmir Biomedicine and Genome Center, in progress
• EU Horizon HE Cofund, European Rare Diseases Research Alliance (ERDERA) project (grant agreement number: 101156595), in progress, (2024-2030)
• TÜBİTAK 1001, Proje No: 222S369, "Akut Miyeloid Lösemi Hastalığında Gözlenen Klinik Heterojenitenin İleri Omik Teknolojiler ile Karakterizasyonu ve Tedavi Direncine Neden Olan Biyobelirteçlerin Belirlenmesi”, (Characterization of Clinical Heterogeneity Observed in Acute Myeloid Leukemia Disease with Advanced Omics Technologies and Identification of Biomarkers Causing Treatment Resistance) in progress.
• DEU-BAP, Proje Numarası: 2014.KB.SAG.054 Blue Gene Project, in progress.
• DEÜ BAP, Investigation of Molecular Changes Leading to Tumor Formation in Neurofibromatosis Type I Disease with an Interdisciplinary Approach, in progress.

Staff 

Active Members

Ahmet Okay Çağlayan (MD, Researcher)
Mehmet Baysan (PhD, Researcher)
Kaya Bilgüvar (MD, PhD, Visiting Researcher)
Nihat Buğra Ağaoğlu (MD, PhD, Visiting Researcher)
Sadık Barış Salman (MSc., Bioinformatician)
İnci Yaprak (MSc., PhD Student)
Kutay Bulut (MSc., PhD Student)
Miray Sevinin (Master’s Student)
Defne Öztürk (Scientific Communications Officer)
Evin İşcan (PhD, Researcher)
Burcu Akman (PhD, Postdoctoral Researcher)
Tuğçe Batur (PhD, Postdoctoral Researcher)
Mert Pekerbaş (MD, Medical Geneticist, Researcher)
Emre Özzeybek (MSc., Bioinformatician)
Ayça Yiğit (MSc., PhD Student, Variant Analyst)
Sinem Aktuğ (MSc., Laboratory Manager)
Aliye Kübra Ünal (MSc., Administrative Research Assistant)
Begüm Utz (PhD, Scientific Communications Officer)
Emine Eylül Taşkın (MSc., ERDERA Project Manager)
Noor Fatima (MSc., Training Officer)

Former Members

Ravza Nur Yıldırım (MD, Medical Geneticist)
Gülçin Akıncı (MD, Visiting Researcher)