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| TBI6037 | Genetic Counseling | 2+0+0 | ECTS:7.5 | | Year / Semester | Fall Semester | | Level of Course | Third Cycle | | Status | Elective | | Department | DEPARTMENT of MEDICAL BIOLOGY | | Prerequisites and co-requisites | None | | Mode of Delivery | Face to face | | Contact Hours | 14 weeks - 2 hours of lectures per week | | Lecturer | Prof. Dr. Figen CELEP EYÜBOĞLU | | Co-Lecturer | None | | Language of instruction | Turkish | | Professional practise ( internship ) | None | | | | The aim of the course: | | The aim of the course is determining risk in families with genetic diseases and to inform patients and families about diseases. |
| Programme Outcomes | CTPO | TOA | | Upon successful completion of the course, the students will be able to : | | | | PO - 1 : | know importance of genetic counseling in clinical genetics | 13 | 1,3 | | PO - 2 : | know social endication of genetic counseling | 13,14 | 1 | | PO - 3 : | know common genetic counseling problems | 13 | 1,3 | | PO - 4 : | know the process of genetic counseling | 13 | 1,3 | | PO - 5 : | determine genetic risks | 13 | 1 | | PO - 6 : | study population screening for genetic diseases | 13,14 | 1 | | CTPO : Contribution to programme outcomes, TOA :Type of assessment (1: written exam, 2: Oral exam, 3: Homework assignment, 4: Laboratory exercise/exam, 5: Seminar / presentation, 6: Term paper), PO : Learning Outcome | | |
| 1) What is the genetic counseling, 2) What is the ındications for genetic counseling, 3) Team of genetic counseling, 4) What is the goals of genetic counseling, 5) Pedigree analysis, 6) Determining patterns of inheritance, 7) Determining recurrence risks, 8) Population screening for genetic disease |
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| Course Syllabus | | Week | Subject | Related Notes / Files | | Week 1 | Genetic counseling in clinical genetics | | | Week 2 | Determining Recurrence risks | | | Week 3 | Pedigree analysis | | | Week 4 | Genes in pedigrees | | | Week 5 | Mendelian pedigree patterns | | | Week 6 | Mendelian pedigree patterns | | | Week 7 | Use of the Hardy-Weinberg distribution in genetic counseling | | | Week 8 | Mid-term exam | | | Week 9 | Complications to the basic pedigree patterns | | | Week 10 | Variability within families is evidence of modifier genes or chance effects | | | Week 11 | Genetic testing in individuals and populations | | | Week 12 | Homeworks | | | Week 13 | Genetic conuseling in autosomal disorders | | | Week 14 | Genetic conuseling in X-linked disorders | | | Week 16 | End-of-term exam | | | |
| 1 | McKusick VA. (1997) Mendelian Inheritance in Man, 12th edn. Johns Hopkins University Press, Baltimore. The print version of the OMIM database | | | |
| 1 | Gardner, RJM. Sutherland, GR. 2004. Chromosome abnormalities and genetic counseling?. 3rd ed.Oxford University pres, Oxford. | | | |
| Method of Assessment | | Type of assessment | Week No | Date | Duration (hours) | Weight (%) | | Mid-term exam | 8 | | 2 | 30 | | Homework/Assignment/Term-paper | 12 | | 1 | 20 | | End-of-term exam | 16 | | 2 | 50 | | |
| Student Work Load and its Distribution | | Type of work | Duration (hours pw) | No of weeks / Number of activity | Hours in total per term | | Yüz yüze eğitim | 2 | 14 | 28 | | Sınıf dışı çalışma | 0 | 0 | 0 | | Laboratuar çalışması | 0 | 0 | 0 | | Arasınav için hazırlık | 7 | 7 | 49 | | Arasınav | 3 | 1 | 3 | | Uygulama | 0 | 0 | 0 | | Klinik Uygulama | 0 | 0 | 0 | | Ödev | 7 | 10 | 70 | | Proje | 2 | 10 | 20 | | Kısa sınav | 0 | 0 | 0 | | Dönem sonu sınavı için hazırlık | 8 | 7 | 56 | | Dönem sonu sınavı | 3 | 1 | 3 | | Diğer 1 | 0 | 0 | 0 | | Diğer 2 | 0 | 0 | 0 | | Total work load | | | 229 |
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