Medical Staff

Üsküdar University

Chair of the Department of Medical Genetics, Faculty of Medicine

Assoc. Prof. Dr. Yeşim Özdemir graduated from the Faculty of Medicine at Erciyes University in 1999. He completed his residency in Medical Genetics at the Department of Medical Genetics at Erciyes University; in his residency thesis, he investigated the expression levels of the PIWIL-1, PIWIL-2, DICER-1, and DDX-4 genes in breast cancer. Following his residency, he worked in the field of clinical genetics at university hospitals, the Education and Research Hospital, and private healthcare institutions.

From 2015 to 2025, he served as the Director of the Genetic Diagnosis Center and Chair of the Genetics Department at Memorial Şişli Hospital, providing services in the areas of prenatal diagnosis, preimplantation genetic diagnosis, screening for hereditary diseases, hereditary cancers, personalized drug selection, and the clinical application of individual genetic tests.

He continued his academic career at the Faculty of Medicine, Üsküdar University, and was awarded the title of Associate Professor in Medical Genetics in 2023. He currently serves as Chair of the Department of Medical Genetics at the Faculty of Medicine, Üsküdar University, and as a Medical Geneticist at NPİSTANBUL Brain Hospital.

His research focuses on rare diseases, neurogenetics, hereditary cancer predispositions, prenatal genetic diagnosis, pharmacogenetics, genomic medicine, cellular and gene therapies, the investigation of new diagnostic biomarkers for complex diseases, personalized treatments, and genetic testing for longevity.

He has published numerous original research articles, case reports, and review articles in national and international journals, as well as over 100 conference abstracts. Additionally:

• He is among the associate editors of the book *Atlas of Dysmorphology and Diagnosis*.
• “Genetic Diagnostic Methods, Rare Diseases, Approach to Children with Dysmorphia, Pediatric Genetic Diseases, and Next-Generation Sequencing Applications”
• Current Developments in Schizophrenia, and New Perspectives.

He has served as an invited speaker at national and international conferences, delivering presentations particularly on prenatal diagnosis, genetic disorders in childhood, epigenetics, the interaction between metabolism and genetics, cellular and gene therapy approaches, the importance of genetic testing in cancer, gene therapies and current developments, and cellular therapies.

In his clinical approach, he adopts a perspective that does not reduce genetic diagnosis to mere laboratory results but evaluates the individual’s family, biological history, and life dynamics as a whole.

“Genetic diagnosis is not merely the result of a test; it is the scientific interpretation of a life story.”

• Erciyes University Faculty of Medicine, Doctor of Medicine (1999)
• Erciyes University, Department of Medical Genetics, Medical Residency (2013)
• Anadolu University, Open Education Faculty, Associate’s Degree in Media and Communication (2022)

• Chair of the Department of Medical Genetics, Üsküdar University Faculty of Medicine (2019–present)
• Specialist, Medical Genetics Clinic, NPİSTANBUL Brain Hospital (present)
• Memorial Şişli Hospital, Director of the Genetic Diagnosis Center (2015–2025)
• Medical Geneticist, Aydin State Hospital (2013–2015)
• Erciyes University Faculty of Medicine, Department of Medical Genetics, Research Assistant (2009–2013)
• Sivas Gemerek State Hospital / Kayseri No. 6 Emergency Department, Physician (1999–2008)

Institutions Employed At

• Üsküdar University Faculty of Medicine
• NPİSTANBUL Brain Hospital

Areas of Scientific Interest

• Molecular genetics of rare and inherited diseases
• Neurogenetics and neurodevelopmental disorders
• Hereditary cancer syndromes
• Prenatal and preimplantation genetic diagnosis
• Pharmacogenetics and personalized medicine
• Translational Approaches in Gene and Cell Therapies
• Epigenetics and changes in gene expression in neurological diseases
• Longevity and Genetic Biomarkers

Scientific Publications (Selected)

• Carrier Frequency of Spinal Muscular Atrophy in the Turkish Population, Journal of Perinatology, 2022
• Reclassification of Hereditary Cancer Gene Variants, Turkish Journal of Oncology, 2022
• Prenatal Diagnosis of Chromosome Abnormalities: 21 Years of Experience, Gazi Medical Journal, 2022
• In Silico Analysis of a De Novo OTC Variant, Applied Immunohistochemistry & Molecular Morphology, 2021
• Clinical and Molecular Evaluation of MEFV Gene Variants in the Turkish Population, Functional & Integrative Genomics (Q2), 2022
• Changes in Gene Expression Levels of GABA and Neurosteroid Pathways, Journal of Neurogenetics, 2021
• An Overview of Healthcare in Turkey, EPMA Journal, 2010
• Rare Diseases and Orphan Drugs in Turkey: Medical and Social Problems, Erciyes Medical Journal, 2010

In total, there are more than 35 national and international articles, over 100 conference abstracts, and numerous book chapters.

Books and Book Chapters

• Atlas of Dysmorphology and Diagnosis, Erciyes University Publications, Associate Editor (2015)
• Terms and Definitions in Dysmorphology, Erciyes University Publications, Associate Editor (2015)
• Schizophrenia: Recent Advances and Patient-Centered Treatment Perspectives, IntechOpen, Chapter Author (2022)
• Healthcare Overview (Springer, 2012) – “Overview of the Healthcare System in Turkey”
• Memorial Pediatrics Practices (2018–2021) – “Our Practices in Genetic Diseases”
• Basic and Clinical Approaches in Light of Current Developments in Healthcare (2021) – “Genetic Causes of Childhood Obesity”
• Pediatrics Workshop – Pediatrics Practices (2023) – “Genetic Diagnostic Methods and the Use of WGS/WES in Complex Diseases”

Educational Activities

• He teaches the courses “Basic Genetics, Medical Genetics, Molecular Biology, and Genetics” at Üsküdar University Faculty of Medicine.
• Genetic integration in the “Cell and Tissue, Circulatory, Digestive, Nervous, and Endocrine Systems” modules within committee-based systems.
• He teaches courses on the Genetic and Molecular Basis of Neurogenetic Disorders to master’s and doctoral students.

Professional Approach

“Genetics is not merely about laboratory results; every analysis touches upon a story, a family, and a life story. My goal is to make a tangible contribution to an individual’s quality of life through the science of genetics.”

• English