Information Package
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Program of Molecular Biology and Genetics (English)

MBGE333

GENETIC DISEASES

Course Code
MBGE333
Semester
-
Theory+Practice
3 + 0
ECTS
4
Course TypeElective Course
Course LevelBachelor's Degree
Year of Study-
Semester-
ECTS4
Name of Lecturer(s) -
Learning Outcomes

At the end of this course, the students;

  1. Learn basic principles of human genetics and genetic disorders.
  2. Understand the heritability modes of genetic diseases.
  3. Learn the molecular mechanisms of inherited diseases and methods of gene therapies.
  4. Learn the moleculer methods used in detection of genes responsible for inherired diseases.
  5. Understand the molecular and metabolic mechanisms of inherited diseases.
Mode of DeliveryFace to face
PrerequisitesNo
Recommended Optional Programme ComponentsNo
Course DescriptionGenetic diseases course aims to provide information on family tree and inheritance patterns, mechanisms of chromosomal aberrations, single gene diseases (commonly observed and genetic approach), non-Mendelian inheritance and molecular approach treatment methods for genetic diseases.
Course Contents
WEEK TOPICS
1st Week Basic genetic concepts
2nd Week Inheritance types
3rd Week Mendelian inheritance
4th Week Single gene inheritance: autosomal inheritance
5th Week Single gene inheritance: sex-linked inheritance
6th Week Chromosomal inheritance
7th Week Multifactorial inheritance
8th Week Mitocondrial inheritance
9th Week Nonmendelian inheritance
10th Week Mechanisms of genetic diseases: biochemical and genetic mechanisms
11th Week Mechanisms of genetic diseases: triple repeat disease
12th Week Identification of genes responsible for hereditary diseases
13th Week Treatment with gene expression control and gene therapy
14th Week General repetition of the course
Recommended or Required ReadingThompson & Thompson Genetics in Medicine. Robert L. Nussbaum, Roderick R. McInnes, Huntington F Willard. 8th, 2015
Emery's Elements of Medical Genetics and Genomics. Peter D Turnpenny (Author), Sian Ellard (Author), Ruth Cleaver (Author) 2021, 16th Edition.
Molecular Biology of the Cell. Bruce Alberts. 7th Edition, 2022.
Human Molecular Genetics. Tom Strachan, Andrew Read. 5th Edition, 2018.
Planned Learning Activities and Teaching Methods
  • Lecture
  • Questions/Answers
  • Presentation
Assessment Methods and Criteria
Quantity Percentage (%)
Mid-term 1 35
Assignment 1 10
Attendance 1 5
Total(%) 50
Contribution of In-term Studies to Overall Grade(%) 50
Contribution of Final Examination to Overall Grade(%) 50
Total(%) 100
ECTS Allocated Based on Student Workload
Activities Quantity Duration (Hour) Total Workload (Hour)
Midterm exam 1 2 2
Preparation for Quiz
Individual or group work
Preparation for Final exam 1 35 35
Course hours 14 3 42
Preparation for Midterm exam 1 25 25
Laboratory (including preparation)
Final exam 1 2 2
Homework 1 15 15
Total Work Load121
Total Work Load / 30 (h)4.03
ECTS Credit of the Course4
Language of InstructionEnglish
Work Placement(s)No

Programme Qualifications / Learning Outcomes

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K13