Department of Medical Genetics
Istanbul University, Turkey
Dr.Yosunkaya, MD, PhD is the chief of Clinical Genetics section at the Department of Medical Genetics, Cerrahpasa Medical School (CMS), Istanbul University. She completed her residency and PhD training in Istanbul University, and continued her career in Boston University, Center for Human Genetics as a research associate. After joining the faculty in CMS, she established the molecular genetics laboratory in the medical genetics department. She is the co-author of two medical book chapters. Her research studies has been published in 16 SCI journals and cited 92 times. She also contributed to many genetics meetings with 48 presentations. She was the assistant editor and is among the reviewers of three journals. She devotes most of her professional time to diagnosis/therapy of patients with genetic syndromes, counselling to pregnant women, who were exposed and/or at risk for teratogenic agents, to conducting clinical molecular genetics research projects and training of medical genetics residents.
Dr.Elif Yosunkaya’s scientific interests mainly focused on the genetic basis for multifactorial diseases, and decided to specialize in the field of medical genetics upon graduating from medical school. During her residency training, she devoted most of her time in practicing clinical genetics, dysmorphology, syndromology and teratology. She earned the title of “Medical Geneticist” after completing the thesis “Evaluation of pregnancies at risk for teratogenicty and their outcomes”, in which 250 pregnancies at risk for teratogenicity were prospectively followed up and the outcomes evaluated in detail. The results of this research study highly expanded the scientific information of clinical teratology and promoted the counselling services for teratogenic exposures during pregnancy, fulfilling the significant requirement for this service not only in the country but also in neighbouring countries. Her extensive study on Familial Mediterranean Fever led to the discovery of a novel mutation of MEFV gene, and also over 20 significant genotype phenotype correlations for this disease. In Boston University, Center for Human Genetics, where she worked as a research associate in molecular genetics laboratory, she participated and directed various research projects, directed preclinical validation studies for genetic tests and evaluated feasibility studies of various molecular techniques. She was awarded a fellowship from Charcot-Marie-Tooth Association for her project titled “Fetal gene therapy for CMT1A”, and the results of this project formed the basis for a larger study project. Her former research subjects consisted of development of molecular techniques for DNA isolation from decayed materials, optimization of molecular techniques in which radioactive isotops are used, and development of algorithms to detect in vivo gene transfer via immunohistochemical assays using GFP. She is highly interested in and conducting research in the genetic basis of autoinflammatory disorders, the interface between cancer and inflammation, developmental genetics and teratology, syndromes with atypical inheritance patterns, pleiotropy and incomplete penentrance mechanisms in genetic syndromes, and searching for modifier gene effects on clinical entities with distinctly established mutations.