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COURSE UNIT TITLECOURSE UNIT CODESEMESTERTHEORY + PRACTICE (Hour)ECTS
HUMAN GENETICS MBGE522 - 3 + 0 10

TYPE OF COURSE UNITElective Course
LEVEL OF COURSE UNITMaster's Degree With Thesis
YEAR OF STUDY-
SEMESTER-
NUMBER OF ECTS CREDITS ALLOCATED10
NAME OF LECTURER(S)-
LEARNING OUTCOMES OF THE COURSE UNIT At the end of this course, the students;
1) Learn human genetics and genetic disorders

2) Learn inheritance patterns of genetic diseases and molecular mechanisms of hereditary diseases
3) Learn GWAS, functional genomics and single-cell genomic technologies used in human genetics
MODE OF DELIVERYFace to face
PRE-REQUISITES OF THE COURSENo
RECOMMENDED OPTIONAL PROGRAMME COMPONENTGenetics
COURSE DEFINITIONIn this course, human genetics and genetic disorders, heritability modes of genetic diseases, molecular mechanisms of inherited diseases, GWAS, functional genomics, and single-cell genomics technologies used in human genetics studies are covered. Students are required to discuss recent research articles in the area.
COURSE CONTENTS
WEEKTOPICS
1st Week Introduction to human genetics
2nd Week Structure of DNA, RNA and protein
3rd Week Molecular mechanisms (replication, transcription, translation, genetic code)
4th Week Regulation of gene function and DNA repair mechanisms
5th Week Human genome organization and chromosomal organization
6th Week Mendelian and Non-mendelian inheritance
7th Week Molecular basis of hereditary diseases and molecular disorders
8th Week Midterm
9th Week Genetic classification of diseases (chromosomal and single gene disorders)
10th Week Genomics, Proteomics and Functional Genomic Technologies
11th Week Gene therapy methods
12th Week Functional genomics technology
13th Week Single-cell technologies
14th Week Student Presentations and Discussion on Articles
RECOMENDED OR REQUIRED READINGHuman Molecular Genetics (5th Edition), Tom Strachan, Andrew Read, Garland Science, 2018.
Recent articles
PLANNED LEARNING ACTIVITIES AND TEACHING METHODSPresentation,Lecture,Discussion,Questions/Answers
ASSESSMENT METHODS AND CRITERIA
 QuantityPercentage(%)
Mid-term125
Presentation of Article120
Presentation of Case Study110
Total(%)55
Contribution of In-term Studies to Overall Grade(%)55
Contribution of Final Examination to Overall Grade(%)45
Total(%)100
ECTS WORKLOAD
Activities Number Hours Workload
Midterm exam133
Preparation for Quiz
Individual or group work
Preparation for Final exam1100100
Course hours14342
Preparation for Midterm exam18080
Laboratory (including preparation)
Final exam133
Homework
Presentation (including preperation)13030
Article Presentation14545
Total Workload303
Total Workload / 3010,1
ECTS Credits of the Course10
LANGUAGE OF INSTRUCTIONEnglish
WORK PLACEMENT(S)No
  

KEY LEARNING OUTCOMES (KLO) / MATRIX OF LEARNING OUTCOMES (LO)
LO1LO2LO3
K1    X   X
K2      X
K3  X   X   X
K4  X   X   X
K5      X
K6      X
K7  X   X   X
K8