Course Description
Course | Code | Semester | T+P (Hour) | Credit | ECTS |
---|
MEDICAL and CLINICAL GENETICS | TBGY1135890 | Fall Semester | 2+2 | 3 | 6 |
Prerequisites Courses | |
Recommended Elective Courses | |
Language of Course | Turkish |
Course Level | Second Cycle (Master's Degree) |
Course Type | Required |
Course Coordinator | Assoc.Prof. Muhsin ELMAS |
Name of Lecturer(s) | Assoc.Prof. Muhsin ELMAS |
Assistant(s) | Associate Professor Akif Ayaz |
Aim | To gain a general perspective on clinical genetics. To increase the understandability of resources related to clinical genetics by explaining basic concepts with examples. To provide perspective on genetic counseling by explaining Mendelian inheritance models with examples of common diseases. To show the basic principles and frequently used symbols in family tree drawings. To demonstrate nonmendelian inheritance models by touching on the types of genetic mutations. To understand the basic clinical findings of common chromosomal diseases. To explain the basic findings of Turner Syndrome. To reason about mutations and methods frequently studied in routine genetic laboratories. To classify genetic diseases by giving examples. To gain a general perspective on prenatal period screening tests, invasive interventions, non-invasive prenatal tests and genetic counseling. |
Course Content | This course contains; Introduction to Human Genetics
,Introduction to Clinical Genetics,Classification of Genetic Diseases
,Frequently Used Methods in Clinical Genetics,Mendelian Inheritance,Non-Mendelian Inheritance,Atypical Mendelian Inheritance,Autosomal Chromosome Diseases,Sex Chromosome Diseases,Prenatal Diagnosis Methods,Genetic Counseling ,Genetics and Ethics,Population Genetics
,Population Genetics
. |
Dersin Öğrenme Kazanımları | Teaching Methods | Assessment Methods |
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, 12, 9 | A, C |
Distinguishes developmental anomalies.
| 13, 9 | A, D |
Classifies genetic diseases according to mendelian inheritance patterns. Gives examples of common diseases for each inheritance pattern.
| 9 | A, C, D |
Explains with examples about expressivity, penetrance and pleitropy.
| 10, 9 | A, C, D |
Defines symbols and icons in standard pedigree drawing.
| 10, 12 | A, C, D |
Understands the importance of genetic counseling in balanced chromosomal anomalies.
| 10, 12, 9 | A, C, D |
Teaching Methods: | 10: Discussion Method, 12: Problem Solving Method, 13: Case Study Method, 9: Lecture Method |
Assessment Methods: | A: Traditional Written Exam, C: Multiple-Choice Exam, D: Oral Exam |
Course Outline
Order | Subjects | Preliminary Work |
---|
1 | Introduction to Human Genetics
| |
2 | Introduction to Clinical Genetics | |
3 | Classification of Genetic Diseases
| |
4 | Frequently Used Methods in Clinical Genetics | |
5 | Mendelian Inheritance | |
6 | Non-Mendelian Inheritance | |
7 | Atypical Mendelian Inheritance | |
8 | Autosomal Chromosome Diseases | |
9 | Sex Chromosome Diseases | |
10 | Prenatal Diagnosis Methods | |
11 | Genetic Counseling | |
12 | Genetics and Ethics | |
13 | Population Genetics
| |
14 | Population Genetics
| |
Resources |
Thompson & Thompson's Genetics in Medicine Smith's Recognizable Patterns of Human Malformation
|
Web Siteleri: 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 | - Defines cell structure, functions and different cell types.
| X | | | | |
2 | Defines the organelles of the cell, their functions and their communication with each other. | X | | | | |
3 | Explains the basic structure and function of the cell. | X | | | | |
4 | Explains laboratory equipment and their use.
| | X | | | |
5 | Defines the use of basic laboratory devices. | | X | | | |
6 | Explains the rules and safety issues to be followed in the laboratory. | | X | | | |
7 | Can develop a hypothesis for a scientific study based ona scientific question. | | X | | | |
8 | Can participate in a clinical or non-clinical study and suggest methodological strategy. | | X | | | |
9 | Can explore advanced biological application and develop laboratory skills to implements and teach them effectively when necessary.
| | X | | | |
10 | Can plan scientific research.
| | X | | | |
11 | Can use scientific databases. | | | X | | |
12 | Carries out a given task independently by using the basic knowledge he/she has in his/her field.
| | X | | | |
13 | Evaluates the basic level of knowledge and skills acquired in the field with a critical approach; identifies learning needs and directs learning. | | X | | | |
14 | He/she can exchange information and ideas by communicating with others about his/her field and scientific research issues. | | X | | | |
15 | Follows the literature with advanced foreign language and computer skills. | X | | | | |
16 | Acts in accordance with the laws, regulations, legislation and professional ethical rules regarding his duties, rights and responsibilities as a Medical Biology Master degree holder.
| X | | | | |
17 | Carries out a given task independently by using the basic knowledge he/she has in his/her field. | X | | | | |
Assessment Methods
Contribution Level | Absolute Evaluation |
Rate of Midterm Exam to Success | | 50 |
Rate of Final Exam to Success | | 50 |
Total | | 100 |
ECTS / Workload Table |
Activities | Number of | Duration(Hour) | Total Workload(Hour) |
Course Hours | 14 | 2 | 28 |
Guided Problem Solving | 14 | 4 | 56 |
Resolution of Homework Problems and Submission as a Report | 14 | 2 | 28 |
Term Project | 0 | 0 | 0 |
Presentation of Project / Seminar | 0 | 0 | 0 |
Quiz | 0 | 0 | 0 |
Midterm Exam | 2 | 13 | 26 |
General Exam | 2 | 16 | 32 |
Performance Task, Maintenance Plan | 0 | 0 | 0 |
Total Workload(Hour) | 170 |
Dersin AKTS Kredisi = Toplam İş Yükü (Saat)/30*=(170/30) | 6 |
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 and CLINICAL GENETICS | TBGY1135890 | Fall Semester | 2+2 | 3 | 6 |
Prerequisites Courses | |
Recommended Elective Courses | |
Language of Course | Turkish |
Course Level | Second Cycle (Master's Degree) |
Course Type | Required |
Course Coordinator | Assoc.Prof. Muhsin ELMAS |
Name of Lecturer(s) | Assoc.Prof. Muhsin ELMAS |
Assistant(s) | Associate Professor Akif Ayaz |
Aim | To gain a general perspective on clinical genetics. To increase the understandability of resources related to clinical genetics by explaining basic concepts with examples. To provide perspective on genetic counseling by explaining Mendelian inheritance models with examples of common diseases. To show the basic principles and frequently used symbols in family tree drawings. To demonstrate nonmendelian inheritance models by touching on the types of genetic mutations. To understand the basic clinical findings of common chromosomal diseases. To explain the basic findings of Turner Syndrome. To reason about mutations and methods frequently studied in routine genetic laboratories. To classify genetic diseases by giving examples. To gain a general perspective on prenatal period screening tests, invasive interventions, non-invasive prenatal tests and genetic counseling. |
Course Content | This course contains; Introduction to Human Genetics
,Introduction to Clinical Genetics,Classification of Genetic Diseases
,Frequently Used Methods in Clinical Genetics,Mendelian Inheritance,Non-Mendelian Inheritance,Atypical Mendelian Inheritance,Autosomal Chromosome Diseases,Sex Chromosome Diseases,Prenatal Diagnosis Methods,Genetic Counseling ,Genetics and Ethics,Population Genetics
,Population Genetics
. |
Dersin Öğrenme Kazanımları | Teaching Methods | Assessment Methods |
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, 12, 9 | A, C |
Distinguishes developmental anomalies.
| 13, 9 | A, D |
Classifies genetic diseases according to mendelian inheritance patterns. Gives examples of common diseases for each inheritance pattern.
| 9 | A, C, D |
Explains with examples about expressivity, penetrance and pleitropy.
| 10, 9 | A, C, D |
Defines symbols and icons in standard pedigree drawing.
| 10, 12 | A, C, D |
Understands the importance of genetic counseling in balanced chromosomal anomalies.
| 10, 12, 9 | A, C, D |
Teaching Methods: | 10: Discussion Method, 12: Problem Solving Method, 13: Case Study Method, 9: Lecture Method |
Assessment Methods: | A: Traditional Written Exam, C: Multiple-Choice Exam, D: Oral Exam |
Course Outline
Order | Subjects | Preliminary Work |
---|
1 | Introduction to Human Genetics
| |
2 | Introduction to Clinical Genetics | |
3 | Classification of Genetic Diseases
| |
4 | Frequently Used Methods in Clinical Genetics | |
5 | Mendelian Inheritance | |
6 | Non-Mendelian Inheritance | |
7 | Atypical Mendelian Inheritance | |
8 | Autosomal Chromosome Diseases | |
9 | Sex Chromosome Diseases | |
10 | Prenatal Diagnosis Methods | |
11 | Genetic Counseling | |
12 | Genetics and Ethics | |
13 | Population Genetics
| |
14 | Population Genetics
| |
Resources |
Thompson & Thompson's Genetics in Medicine Smith's Recognizable Patterns of Human Malformation
|
Web Siteleri: 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 | - Defines cell structure, functions and different cell types.
| X | | | | |
2 | Defines the organelles of the cell, their functions and their communication with each other. | X | | | | |
3 | Explains the basic structure and function of the cell. | X | | | | |
4 | Explains laboratory equipment and their use.
| | X | | | |
5 | Defines the use of basic laboratory devices. | | X | | | |
6 | Explains the rules and safety issues to be followed in the laboratory. | | X | | | |
7 | Can develop a hypothesis for a scientific study based ona scientific question. | | X | | | |
8 | Can participate in a clinical or non-clinical study and suggest methodological strategy. | | X | | | |
9 | Can explore advanced biological application and develop laboratory skills to implements and teach them effectively when necessary.
| | X | | | |
10 | Can plan scientific research.
| | X | | | |
11 | Can use scientific databases. | | | X | | |
12 | Carries out a given task independently by using the basic knowledge he/she has in his/her field.
| | X | | | |
13 | Evaluates the basic level of knowledge and skills acquired in the field with a critical approach; identifies learning needs and directs learning. | | X | | | |
14 | He/she can exchange information and ideas by communicating with others about his/her field and scientific research issues. | | X | | | |
15 | Follows the literature with advanced foreign language and computer skills. | X | | | | |
16 | Acts in accordance with the laws, regulations, legislation and professional ethical rules regarding his duties, rights and responsibilities as a Medical Biology Master degree holder.
| X | | | | |
17 | Carries out a given task independently by using the basic knowledge he/she has in his/her field. | X | | | | |
Assessment Methods
Contribution Level | Absolute Evaluation |
Rate of Midterm Exam to Success | | 50 |
Rate of Final Exam to Success | | 50 |
Total | | 100 |
Numerical Data
Ekleme Tarihi: 26/11/2023 - 22:23Son Güncelleme Tarihi: 26/11/2023 - 22:24
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