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Diagnosis of genetic diseases of the patients in Kirikkale University Research and Practise Hospital
Turkey (TurkMSIC) - Kirikkale University, Kirikkale
Department of Medical Genetics, Kirikkale University Faculty of Medicine, Yenisehir, Ankara Road 7.km, 71450, Yahsihan/Kirikkale/Turkey
Derya Beyza Sayin (Associate Professor of Medical Genetics)
Derya Beyza Sayin (Associate Professor of Medical Genetics)
Type of Research Project
- Basic science
What is the background of the project?
Kirikkale University Faculty of Medicine Department of Medical Genetics firstly established in 2001 under the name of the Department of Medical Biology. The first genetic studies in Turkey, started in schools outside their medical schools and continued: C. Coswick A. Heilborn, Mehpare Heilborn, Sara Akdik, Citation Şengün, Emine Bilgen, Joseph Vardar, Orhan Düzgüneş, İbrahim Demir, Sehabettin Acts, Halis Ruhi Ekingen, Ali Nihat Bozcuk, Aykut Kence, Nermin Gozukir red and so on. The human genetic studies in Turkey the first time in Istanbul Medical Faculty in 1930 (Sadi Irmak, Perihan Cambel Citation Gansu, Ihsan Hilmi Antar, etc.), begun in 1982, has become this section of the Department. Since 2009 Department of Medical Genetics has been a seperate department from Medical Biology. In Kirikkale University Faculty of Medicine Molecular Genetics Laboratory we are making mainly routine molecular genetic testing both non-human trials and clinical human studies on Familial Mediterranean Fewer, Cystic Fibrosis, hemochromatosis and genetic durability testing for thrombophilia, ankylosing spondylitis. We also conduct routine clinical tests but the student will only be involved with the services we provide to researchers and ongoing projects.
What is the aim of the project?
To diagnose genetic diseases [Familial Mediterranean Fewer, Hemophilia, Duchenne Muscular Dystrophy, cystic fibrosis, alpha- and beta-thalassemias, sickle cell anemia (sickle cell disease), Marfan syndrome,fragile X syndrome,Huntington's disease,hemochromatosis] and disorders of the patients in Kirikkale University Research and Practise Hospital.Genetic diagnosis and testing in clinical. Genetic testing is defined as the analysis of human Deoxyribonucleic acid (DNA), Ribonucleic acid (RNA), chromosomes, proteins and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes or karyotypes for clinical purposes.In our project we will work defining prevalence of genetic diseases in our populations. As we work we can understand how genes affect. Also we can find which genetic disorders are common in between two different gender.
What techniques and methods are used?
We are using allele specific real-time PCR which is an application of the polymerase chain reaction (PCR) that permits the direct detection of any point mutation in human deoxyribonucleic acid (DNA) by analysing the PCR products in an ethidium bromide-stained agarose or polyacrylamide gel. Also we are making chromosome analysis from peripheral blood with karyotype analysis that evaluates the number and structure of a person's chromosomes in order to detect abnormalities, FISH (Fluorescence In Situ Hybridization) - it is a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of a nucleic acid sequence with a high degree of sequence complementarity.
What is the role of the student?
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
The following tasks will be expected to be accomplished by the student: -It is expected to understand basic principles of genetic testing. -Observing and examining the steps and stages of the genetic tests in the laboratory -Being able to use a light-microscope in order to examine the karyotypes -Learning and helping prepare different techniques that are used in genetic examinations like PCR (polymerase chain reaction) and FISH (Fluorescence in situ hybridization) -Learning about epidemiologies of different genetic disorders. -Recording of long term data of data of the patients enrolled in trials (i.e.follow-up information). -Entry of the obtained clinicopathological parameters into the database -Learn and use of Statistical Package for the Social Sciences (SPSS) 26, statistical analysis, data management (case selection, file reshaping, creating derived data) and data documentation to analyze the results of the project.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
The following topics will be provided in the form of seminars by Assoc. Prof. Derya Beyza Sayin Lessons will be provided according to the availability of the teacher, at least once per week: -General information about common genetic diseases in Turkey like Mediterranean anemia, Familial Mediterranean Fewer etc. -The process of common laboratory tests like Polymerase Chain Reaction (PCR), Karyotype analysis, FISH (Fluorescence in situ hybridization), Microarray analysis.
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a presentation
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
No specific skills are required.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months) - Pre-Medical students from the American-British system - Students in biomedical fields - Dental medicine students (IADS members)
- -Familial Mediterranean fever: An updated review İsmail Sarı; Merih Birlik; and Timuçin Kasifoğlu PMCID: PMC5042258 https://doi.org/10.5152/eurjrheum.2014.006
- - Cystic fibrosis genetics: from molecular understanding to clinical application Garry R. Cutting MCID: PMC4364438 https://doi.org/10.1038/nrg3849 - Diagnosis and Treatment of Genetic HFE-Hemochromatosis: The Danish Aspect
- Nils Thorm Milman; Frank Vinholt Schioedt; Anders Ellekaer Junker and Karin Magnussenc PMCID: PMC6785287 https://doi.org/10.14740/gr1206
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