Course Description
| Course | Code | Semester | T+P (Hour) | Credit | ECTS |
|---|---|---|---|---|---|
| MEDICAL GENETICS | - | Yearly | 12+0 | - | 1 |
| Course Program |
| Prerequisites Courses | |
| Recommended Elective Courses |
| Language of Course | Turkish |
| Course Level | First Cycle (Bachelor's Degree) |
| Course Type | Committee Course |
| Course Coordinator | |
| Name of Lecturer(s) | |
| Assistant(s) | Associate Professor Muhsin Elmas |
| Aim | To increase the knowledge level of our students by giving examples of frequently used basic concepts in order to gain a general perspective on Medical Genetics. To give information about Mendelian inheritance models. To analyze the inheritance patterns of common diseases and disease groups. Demonstrate basic principles and frequently used symbols in pedigree. Demonstrating nonmendelian inheritance patterns by referring to genetic mutation types. To comprehend the clinical findings of common chromosomal diseases and to mention the importance of genetic counseling according to the types of chromosomal mutations. To explain the clinical manifestations of sex chromosomal diseases. To show the prenatal/postnatal period findings and chromosomal mutation types of Turner Syndrome in detail. To give information about prenatal screening tests, invasive interventions, noninvasive prenatal tests and genetic counseling. To address the molecular genetic diagnosis methods used in the Medical Genetics routine and to explain the basic mechanisms of the techniques. |
| Course Content | This course contains; Basic Concepts in Medical Genetics,Mendelian Inheritance,Non-Mendelian Inheritance,Autosomal Chromosome Diseases,Genetic Diseases Related to Sex Chromosomes,Prenatal Testing and Genetic Counseling. |
| Dersin Öğrenme Kazanımları | Teaching Methods | Assessment Methods |
| Distinguishes developmental anomalies. | 10, 13, 9 | D, E |
| It envisages the use of different molecular methods to detect chromosome and gene changes. Provides insight into the selection of methods for the etiology of genetic diseases. | 10, 9 | C, D, E |
| Understands the importance of genetic counseling in balanced chromosomal anomalies. | 10, 12, 13, 9 | C, E |
| Explains with examples about expressivity, penetrance and pleitropy. | 10, 12, 13, 9 | C, E |
| Explains chromosomal anomalies compatible with life together with their clinical findings. | 10, 12, 13, 9 | C |
| Understands prenatal diagnosis indications and gives examples. | 10, 12, 13, 9 | C |
| Teaching Methods: | 10: Discussion Method, 12: Problem Solving Method, 13: Case Study Method, 9: Lecture Method |
| Assessment Methods: | C: Multiple-Choice Exam, D: Oral Exam, E: Homework |
Course Outline
| Order | Subjects | Preliminary Work |
|---|---|---|
| 1 | Basic Concepts in Medical Genetics | |
| 2 | Mendelian Inheritance | |
| 3 | Non-Mendelian Inheritance | |
| 4 | Autosomal Chromosome Diseases | |
| 5 | Genetic Diseases Related to Sex Chromosomes | |
| 6 | Prenatal Testing and Genetic Counseling |
| Resources |
| Thompson & Thompson's Genetics in Medicine Smith's Recognizable Patterns of Human Malformation |
| Web sites Online Mendelian Inheritance in Man https://www.omim.org/ GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1116/ |
Course Contribution to Program Qualifications
| Course Contribution to Program Qualifications | |||||||
| No | Program Qualification | Contribution Level | |||||
| 1 | 2 | 3 | 4 | 5 | |||
| 1 | Knows structural (morphological) and operational (functional) properties of the normal human (medical) and disorder (disease) states | X | |||||
| 2 | Knows diagnostic methods and treatment modalities of disorders (diseases). | X | |||||
| 3 | Knows the causes of disease conditions, ways of protection and methods of promoting and improving community health. | X | |||||
| 4 | Knows the methods of developing and applying health related knowledge at advanced level. | X | |||||
| 5 | Able to reach multidisciplinary advanced knowledge regarding health-related disciplines, interpret and apply the knowledge. | X | |||||
| 6 | Performs a complete clinical examination of human body structurally and functionally and identifies problems. | X | |||||
| 7 | Interprets laboratory results for diagnosis, compares with clinical data and develop solution proposals. | X | |||||
| 8 | Selects and implements appropriate tools for the promotion and development of individual and community health. | X | |||||
| 9 | Plans and conducts an advanced study on health independently. | X | |||||
| 10 | Develops new strategic approaches to solve the problems encountered in the promotion and development of individual and community health. | X | |||||
| 11 | Takes the responsibility of any type of practice when diagnosing and treating human body | X | |||||
| 12 | Takes the role as a leader or a team worker when solving health related problems. | X | |||||
| 13 | Evaluates knowledge and skills regarding health with a critical approach and develops a positive attitude towards lifelong learning. | X | |||||
| 14 | Informs the patient, related people, institutions and the society about the health problems and transfers solution proposals in writing, verbally and visually using effective communication means. | X | |||||
| 15 | Critically reviews, develops and acts on changes in social relations and norms that guide such relationships. | X | |||||
| 16 | Uses English at least at the European Language Portfolio B2 Level, monitors knowledge and communicates in his field. | X | |||||
| 17 | Able to use advanced computer skills and informatics and communication technologies at a level required by the field. | ||||||
| 18 | Acquires, interprets, implements and announces data related to the health and acts in accordance with social, scientific, cultural and ethical values and teaches these values. | X | |||||
| 19 | Develops strategies, policy and implementation plans in the field of health and evaluates the results obtained within the framework of quality processes. | X | |||||
| 20 | Shares studies on the promotion and development of health with interdisciplinary specialists systematically, supporting with quantitative and qualitative data. | X | |||||
| 21 | Has adequate awareness on occupational health and safety issues. | ||||||
Assessment Methods
| Contribution Level | Absolute Evaluation | |
| Rate of Midterm Exam to Success | 40 | |
| Rate of Final Exam to Success | 60 | |
| Total | 100 | |
| ECTS / Workload Table | ||||||
| Activities | Number of | Duration(Hour) | Total Workload(Hour) | |||
| Course Hours | 6 | 2 | 12 | |||
| Guided Problem Solving | 1 | 1 | 1 | |||
| Resolution of Homework Problems and Submission as a Report | 1 | 1 | 1 | |||
| Term Project | 1 | 2 | 2 | |||
| Presentation of Project / Seminar | 2 | 1 | 2 | |||
| Quiz | 0 | 0 | 0 | |||
| Midterm Exam | 1 | 10 | 10 | |||
| General Exam | 1 | 10 | 10 | |||
| Performance Task, Maintenance Plan | 0 | 0 | 0 | |||
| Total Workload(Hour) | 38 | |||||
| Dersin AKTS Kredisi = Toplam İş Yükü (Saat)/30*=(38/30) | 1 | |||||
| ECTS of the course: 30 hours of work is counted as 1 ECTS credit. | ||||||
Detail Informations of the Course
Course Description
| Course | Code | Semester | T+P (Hour) | Credit | ECTS |
|---|---|---|---|---|---|
| MEDICAL GENETICS | - | Yearly | 12+0 | - | 1 |
| Course Program |
| Prerequisites Courses | |
| Recommended Elective Courses |
| Language of Course | Turkish |
| Course Level | First Cycle (Bachelor's Degree) |
| Course Type | Committee Course |
| Course Coordinator | |
| Name of Lecturer(s) | |
| Assistant(s) | Associate Professor Muhsin Elmas |
| Aim | To increase the knowledge level of our students by giving examples of frequently used basic concepts in order to gain a general perspective on Medical Genetics. To give information about Mendelian inheritance models. To analyze the inheritance patterns of common diseases and disease groups. Demonstrate basic principles and frequently used symbols in pedigree. Demonstrating nonmendelian inheritance patterns by referring to genetic mutation types. To comprehend the clinical findings of common chromosomal diseases and to mention the importance of genetic counseling according to the types of chromosomal mutations. To explain the clinical manifestations of sex chromosomal diseases. To show the prenatal/postnatal period findings and chromosomal mutation types of Turner Syndrome in detail. To give information about prenatal screening tests, invasive interventions, noninvasive prenatal tests and genetic counseling. To address the molecular genetic diagnosis methods used in the Medical Genetics routine and to explain the basic mechanisms of the techniques. |
| Course Content | This course contains; Basic Concepts in Medical Genetics,Mendelian Inheritance,Non-Mendelian Inheritance,Autosomal Chromosome Diseases,Genetic Diseases Related to Sex Chromosomes,Prenatal Testing and Genetic Counseling. |
| Dersin Öğrenme Kazanımları | Teaching Methods | Assessment Methods |
| Distinguishes developmental anomalies. | 10, 13, 9 | D, E |
| It envisages the use of different molecular methods to detect chromosome and gene changes. Provides insight into the selection of methods for the etiology of genetic diseases. | 10, 9 | C, D, E |
| Understands the importance of genetic counseling in balanced chromosomal anomalies. | 10, 12, 13, 9 | C, E |
| Explains with examples about expressivity, penetrance and pleitropy. | 10, 12, 13, 9 | C, E |
| Explains chromosomal anomalies compatible with life together with their clinical findings. | 10, 12, 13, 9 | C |
| Understands prenatal diagnosis indications and gives examples. | 10, 12, 13, 9 | C |
| Teaching Methods: | 10: Discussion Method, 12: Problem Solving Method, 13: Case Study Method, 9: Lecture Method |
| Assessment Methods: | C: Multiple-Choice Exam, D: Oral Exam, E: Homework |
Course Outline
| Order | Subjects | Preliminary Work |
|---|---|---|
| 1 | Basic Concepts in Medical Genetics | |
| 2 | Mendelian Inheritance | |
| 3 | Non-Mendelian Inheritance | |
| 4 | Autosomal Chromosome Diseases | |
| 5 | Genetic Diseases Related to Sex Chromosomes | |
| 6 | Prenatal Testing and Genetic Counseling |
| Resources |
| Thompson & Thompson's Genetics in Medicine Smith's Recognizable Patterns of Human Malformation |
| Web sites Online Mendelian Inheritance in Man https://www.omim.org/ GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1116/ |
Course Contribution to Program Qualifications
| Course Contribution to Program Qualifications | |||||||
| No | Program Qualification | Contribution Level | |||||
| 1 | 2 | 3 | 4 | 5 | |||
| 1 | Knows structural (morphological) and operational (functional) properties of the normal human (medical) and disorder (disease) states | X | |||||
| 2 | Knows diagnostic methods and treatment modalities of disorders (diseases). | X | |||||
| 3 | Knows the causes of disease conditions, ways of protection and methods of promoting and improving community health. | X | |||||
| 4 | Knows the methods of developing and applying health related knowledge at advanced level. | X | |||||
| 5 | Able to reach multidisciplinary advanced knowledge regarding health-related disciplines, interpret and apply the knowledge. | X | |||||
| 6 | Performs a complete clinical examination of human body structurally and functionally and identifies problems. | X | |||||
| 7 | Interprets laboratory results for diagnosis, compares with clinical data and develop solution proposals. | X | |||||
| 8 | Selects and implements appropriate tools for the promotion and development of individual and community health. | X | |||||
| 9 | Plans and conducts an advanced study on health independently. | X | |||||
| 10 | Develops new strategic approaches to solve the problems encountered in the promotion and development of individual and community health. | X | |||||
| 11 | Takes the responsibility of any type of practice when diagnosing and treating human body | X | |||||
| 12 | Takes the role as a leader or a team worker when solving health related problems. | X | |||||
| 13 | Evaluates knowledge and skills regarding health with a critical approach and develops a positive attitude towards lifelong learning. | X | |||||
| 14 | Informs the patient, related people, institutions and the society about the health problems and transfers solution proposals in writing, verbally and visually using effective communication means. | X | |||||
| 15 | Critically reviews, develops and acts on changes in social relations and norms that guide such relationships. | X | |||||
| 16 | Uses English at least at the European Language Portfolio B2 Level, monitors knowledge and communicates in his field. | X | |||||
| 17 | Able to use advanced computer skills and informatics and communication technologies at a level required by the field. | ||||||
| 18 | Acquires, interprets, implements and announces data related to the health and acts in accordance with social, scientific, cultural and ethical values and teaches these values. | X | |||||
| 19 | Develops strategies, policy and implementation plans in the field of health and evaluates the results obtained within the framework of quality processes. | X | |||||
| 20 | Shares studies on the promotion and development of health with interdisciplinary specialists systematically, supporting with quantitative and qualitative data. | X | |||||
| 21 | Has adequate awareness on occupational health and safety issues. | ||||||
Assessment Methods
| Contribution Level | Absolute Evaluation | |
| Rate of Midterm Exam to Success | 40 | |
| Rate of Final Exam to Success | 60 | |
| Total | 100 | |