Özbek Lab. on Human Genetics
Research Activities
Our main focus at Özbek Lab is to delineate the genetic and molecular mechanisms underlying hereditary cancers/hematological malignancies and rare and undiagnosed diseases.
Our laboratory at IBG has been established in 2023, following the appointment of Prof. Özbek as the ERA Chair in the RareBoost project. RareBoost is a Horizon 2020-funded project awarded to IBG to ‘boost’ IBG’s research and innovation in the field of rare and undiagnosed diseases. For more information on the RareBoost project and its activities, please visit https://rareboost.ibg.edu.tr/
Rare diseases are defined in Europe as diseases that afflict less than 1 in 2000 people. Although each rare disease is by definition ‘rare’, they together represent a large, heterogeneous group of approximately 6000 different diseases, which altogether afflict 350-400 million people worldwide and more than 30 million in Europe and cause a major burden to human well-being and health systems.
Undiagnosed diseases are conditions that cannot be explained by standard medical evaluations. In this group of diseases, there may be new clinical conditions whose cause is known but differ from those described in the literature, as well as very rare diseases or diseases whose cause is not known “yet”. It is estimated that 350 million patients remain undiagnosed worldwide and approximately 75% of them are in childhood. Today, thanks to advanced diagnostic methods and advanced genetic examinations, 35-50% of patients who have remained undiagnosed for a long time can be diagnosed. Approximately 600 new diseases have been identified through international undiagnosed disease networks (“Undiagnosed Diseases Network”) established for this purpose, and this number is gradually increasing.
Our lab uses genomic analysis tools such as whole genome sequencing, whole exome sequencing and RNA sequencing to uncover the causative genes behind rare diseases in previously undiagnosed cases. Through deep phenotyping combined with genomic analysis, we aim to identify and characterize the genetic causes of these rare diseases.
Under the umbrella of the RareBoost project, we have established the Rare and Undiagnosed Diseases Platform (RUDiP) at IBG. Together with the RUDiP member groups, we take a multidisciplinary approach to study rare diseases.
To assist in the diagnosis of unsolved clinical cases, we hold ‘rare and undiagnosed disease patient advisory board’ meetings every month at IBG. Clinicians from neighboring hospitals in the Aegean region present their undiagnosed patient cases to the board. We discuss the cases with IBG researchers and clinicians to establish a roadmap towards diagnosis for each patient. Certain cases are selected for further genomic and functional studies, and animal models are generated to further understand the role of the pathogenic mutations.
Aside from these, we collaborate with several different research partners in the following groups of diseases and research areas:
Rare cancers and neurofibromatosis
Genetic neurodevelopmental disorders
Disease epigenetics
We also actively work with the IBG Biobank to document and store samples and data from rare disease and cancer patients.
Teaching and Training Activities
Another aim of the Özbek Lab and the RareBoost project is to develop the soft skills of the IBG researchers and contribute to their professional development. With this aim, we organize regular teaching and training activities. These activities are regularly advertised on the RareBoost and IBG websites and social media channels.
One of our regular activities is the monthly RareBoost seminar series, where we host a leading researcher in the field of rare diseases at IBG.
We are also a part of the European Rare Diseases Research Alliance (ERDERA). Under this program, we are developing a Master’s level education program on rare diseases.
Outreach and Communication Activities
One of the critical issues regarding rare diseases is the limited knowledge and awareness, not only among the general public but also among lawmakers and even healthcare professionals. To address this, we lead efforts on the dissemination of knowledge from IBG’s Rare and Undiagnosed Diseases Platform to national and international partners. We work with experts to organize events related to rare diseases targeting researchers, physicians, patients and their families, and the general public.
The rare and undiagnosed diseases research and communication club (IBG-Nadir) which is formed under the umbrella of the RareBoost project aims to foster collaboration, education, and outreach to drive progress in understanding and addressing rare and undiagnosed conditions.
Through effective science communication, we aim to enhance public awareness of rare diseases, ensuring that the significance and challenges of these conditions are more widely understood and prioritized.
Group Members
Özbek Lab. on Human Genetics
Research Group Leader
Uğur ÖZBEK
ugur.ozbek@ibg.edu.tr
+90 232 299 41 00
(5211)
+9
02322994185
Evin İŞCAN
Research Group Member
evin.iscan@ibg.edu.tr
Sinem AKTUĞ
Laboratory Responsible
sinem.aktug@ibg.edu.tr
Ayça YİĞİT
Researcher
ayca.yigit@ibg.edu.tr
Gizem ŞENTÜRK
PhD Student
None
BEGÜM UTZ
Researcher
begum.utz@ibg.edu.tr
Aliye Kübra ÜNAL
Administrative Research Assistant
kubra.unal@ibg.edu.tr
+90 232 299 41
00
(5210)
0 (232) 299 _ _
Elfin ÖZET
MSc Student
elfin.ozet@std.ibg.edu.tr
Emre ÖZZEYBEK
Researcher
emre.ozzeybek@ibg.edu.tr
Ravza Nur YILDIRIM
Researcher
ravza.yildirim@ibg.edu.tr
Ahmet Okay ÇAĞLAYAN
Researcher
okay.caglayan@ibg.edu.tr
Burcu AKMAN
Researcher
burcu.akman@ibg.edu.tr
0 (232) 299 _ _
Hanife GÖKKAN
Researcher
hanife.gokkan@ibg.edu.tr
0 (232) 299 _ _
Mehmet BAYSAN
Researcher
mehmet.baysan@ibg.edu.tr
Emine Eylül TAŞKIN
Scientific Communication Specialist
eylul.taskin@ibg.edu.tr
Gülçin AKINCI
Visiting Researcher
None
Miray SEVİNİN
MSc Student
miray.sevinin@ibg.edu.tr
Mert PEKERBAŞ
Researcher
mert.pekerbas@ibg.edu.tr
İNCİ YAPRAK
PhD Student
inci.yaprak@ibg.edu.tr
Tuğçe BATUR
Researcher
tugce.batur@ibg.edu.tr
Barış SALMAN
Researcher
baris.salman@ibg.edu.tr
Noor FATIMA
Training Officer
noor.fatima@ibg.edu.tr
Former Members
Ayla ANAR
Researcher
ayla.anar@ibg.edu.tr
Selected Publications
Lazic J, Haas OA, Özbek U, Ripperger T, Byrjalsen A, Te Kronnie G, LEGEND-COST Working group 5 members. Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey.. Pediatric blood & cancer. 2023 May ; 70 (5) : e30229. doi:10.1002/pbc.30229. Download
Hatirnaz Ng O, Sahin I, Erbilgin Y, Ozdemir O, Yucesan E, Erturk N, Yemenici M, Akgun Dogan O, Ugur Iseri SA, Satman I, Alanay Y, Ozbek U. Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results.. Frontiers in public health. 2023 January ; 10 : 1049349. doi:10.3389/fpubh.2022.1049349. Download
Taruscio D, Salvatore M, Lumaka A, Carta C, Cellai LL, Ferrari G, Sciascia S, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero V, Scaria V, Jamuar SS, Shotelersuk V, Roccatello D, Gahl WA, Wiafe SA, Bodamer O, Posada M. Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.. Frontiers in public health. 2023 March ; 11 : 1079601. doi:10.3389/fpubh.2023.1079601. Download
Firtina S, Erbilgin Y, Hatirnaz Ng O, Karaman S, Karakas Z, Celkan TT, Gelen SA, Yildirmak Y, Ozbek U, Sayitoglu M. Impact of TP53 gene variants on prognosis and survival of childhood acute lymphoblastic leukemia.. Scandinavian journal of clinical and laboratory investigation. 2023 May ; 83 (3) : 187-193. doi:10.1080/00365513.2023.2195682. Download
Susgun S, Yucesan E, Goncu B, Hasanoglu Sayin S, Kina UY, Ozgul C, Duzenli OF, Kocaturk O, Calik M, Ozbek U, Ugur Iseri SA. Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2023 November . doi:10.1007/s10072-023-07211-y. Download
Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.. Frontiers in public health. 2023 September ; 11 : 1248260. doi:10.3389/fpubh.2023.1248260. Download
Mercan S, Akcakaya NH, Salman B, Yapici Z, Ozbek U, Ugur Iseri SA. Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.. Genes & genomics. 2023 January ; 45 (1) : 13-21. doi:10.1007/s13258-022-01344-8. Download
Abdurrahman Aslan, Özden Hatırnaz-Ng, Orçun Taşar, Uğur Özbek, Pınar Yamantürk-Çelik. Memantine and SKF82958 but not an enriched environment modulate naloxone-precipitated morphine abstinence syndrome without affecting hippocampal tPA mRNA levels in rats. Pharmacology Biochemistry and Behavior. 2023 December ; 234 : 173688. doi:10.1016/j.pbb.2023.173688. Download
Kubar A, Temel SG, Beken S, Onder G, Hatirnaz O, Korkmaz A, Alanay Y, Ozbek U, Sag SO, Ergoren MC, Kubar E, Sonmezalp CZ, Doğan O. A new line method; A direct test in spinal muscular atrophy screening for DBS.. Molecular genetics & genomic medicine. 2023 December ; 11 (12) : e2270. doi:10.1002/mgg3.2270. Download
Karaca MA, Kancagi DD, Ozbek U, Ovali E, Gok O. Preparation of Cell-Loaded Microbeads as Stable and Injectable Delivery Platforms for Tissue Engineering.. Biomimetics (Basel, Switzerland). 2023 April ; 8 (2) : 155. doi:10.3390/biomimetics8020155. Download
Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T. No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.. Epilepsia. 2019 May ; 60 (5) : e31-e36. doi:10.1111/epi.14657. Download
Total : 11
Open Positions
NanoBio4Can Open Postdoctoral Researcher Position
Join Our Research Team in Advancing Molecular Mechanisms, Therapeutics in Neuroblastoma Research and Epigenetics!
We are looking for enthusiastic and highly motivated postdoctoral fellows with expertise in molecular biology, medicine, pharmacy, bioinformatics, or related disciplines to join our vibrant research team at the Izmir Biomedicine and Genome Center as part of the ongoing Rare Disease-Rare Cancers research work with Özbek Lab Team.
The positions focus on the following research areas:
- Uncovering the detailed molecular mechanisms involved in drug resistance and prognosis of neuroblastoma
- Cutting-edge CRISPR-Cas9 technology to perform proximity ligation assays and BioID studies to identify of protein-protein interactions and molecular networks.
- Development of monoclonal antibody-based therapies
- Deregulations in chromatin regulatory networks in cell models and clinical samples to unravel the molecular processes underlying disease progression
- Integrated analyses of ChIP-seq, ATAC-seq, DNA methylation with transcriptomic and proteomic approaches.
If this scientific endeavor sparks your interest, we encourage you to submit your application via https://nanobio4can.net
https://www.linkedin.com/feed/update/urn:li:activity:7295360616427393024
https://rareboost.ibg.edu.tr/postdoctoral-researcher-positions-with-nanobio4can-program/
Contact
Özbek Lab. on Human Genetics
Research Group Leader
Uğur ÖZBEK
ugur.ozbek@ibg.edu.tr
+90 232 299 41 00
(5211)
+9
02322994185