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
-
Fall Semester
2+2
3
6
Course Program
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)
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.
