Molecular Basis of Inherited Diseases
Medical Genetics and Molecular Biology
Institute of Health Sciences
Third Cycle (Doctorate Degree)
| Course Unit Title | Course Unit Code | Type of Course Unit | Level of Course Unit | Year of Study | Semester | ECTS Credits |
|---|---|---|---|---|---|---|
| Molecular Basis of Inherited Diseases | MBG612 | Elective | Doctorate degree | 1 | Fall | 8 |
Name of Lecturer(s)
Prof. Dr. Naci ÇİNE
Assistant Prof. Dr. Deniz SÜNNETÇİ AKKOYUNLU
Learning Outcomes of the Course Unit
1) 1-Teaches the definition of heritability.
2-Teaches grouping of hereditary diseases.
3-Shows the inheritance patterns.
4-Genetic counseling teaches.
5-Molecular teaches the methods of gene therapy of diseases.
Program Competencies-Learning Outcomes Relation
| Program Competencies | ||||||
| 1 | 2 | 3 | 4 | 5 | ||
| Learning Outcomes | ||||||
| 1 | No relation | No relation | No relation | No relation | No relation | |
Mode of Delivery
Face to Face
Prerequisites and Co-Requisites
None
Recommended Optional Programme Components
Medical genetics
Course Contents
Molecular genetic basis of inherited diseases types, genotypic and phenotypic features of hereditary diseases, genetic counseling, to understand patterns of inheritance.
Weekly Schedule
1) Definition of heritability.2) Classification of hereditary diseases.
3) Molecular pathology of monogenic diseases.
4) Non-Mendelian and molecular pathology, multifactorial diseases.
5) Modes of inheritance.
6) Examples of inherited diseases at the level of the gene.
7) Genetic counseling.
8) Examination / Assessment.
9) Mendelian and non-Mendelian diseases, molecular approaches to diagnosis.
10) Cytogenetic methods of diagnosis of chromosomal diseases.
11) Interpretation of clinical laboratory findings.
12) Prenatal diagnosis of chromosomal disorders.
13) Molecular prenatal diagnosis of diseases.
14) Molecular diseases, gene therapy methods.
15) Discussion.
16) Final Exam.
Recommended or Required Reading
Planned Learning Activities and Teaching Methods
1) Lecture
2) Group Study
Assessment Methods and Criteria
Contribution of Midterm Examination to Course Grade |
40% |
|---|---|
Contribution of Final Examination to Course Grade |
60% |
Total |
100% |
Language of Instruction
Turkish
Work Placement(s)
Not Required