GAZI UNIVERSITY INFORMATION PACKAGE - 2019 ACADEMIC YEAR

COURSE DESCRIPTION
HEREDITARY METABOLIC DISORDERS/TBG-6050
Course Title: HEREDITARY METABOLIC DISORDERS
Credits 2 ECTS 6
Semester 1 Compulsory/Elective Elective
COURSE INFO
 -- LANGUAGE OF INSTRUCTION
  Turkish
 -- NAME OF LECTURER(S)
  Prof. Ece KONAC, Assoc. Prof. Hacer Ilke ONEN, Assoc. Prof. Atiye Seda YAR SAGLAM
 -- WEB SITE(S) OF LECTURER(S)
  http://www.websitem.gazi.edu.tr/site/ecem, http://www.websitem.gazi.edu.tr/site/hionen, http://www.websitem.gazi.edu.tr/site/sedayar
 -- EMAIL(S) OF LECTURER(S)
  ecem@gazi.edu.tr, hionen@gazi.edu.tr,sedayar@gazi.edu.tr
 -- LEARNING OUTCOMES OF THE COURSE UNIT
To be able to classify hemoglobinopathies
To be able to explain molecular analysis methods of hemoglobin disorders
To be able to explain hereditary metabolic diseases related to enzyme disorders
To be able to explain metabolic disorders of pyrimidine and purine metabolism
To be able to explain lysosomal storage disease
To be able to explain to structural protein disorders
To be able to define molecular biology of membrane transport disorders
To be able to define molecular biology of receptor mutation disorders
To be able to define diseases related to cofactor metabolism disorders
To be able to define mitochondrial Diseases
 -- MODE OF DELIVERY
  The mode of delivery of this course is face to face
 -- PREREQUISITES AND CO-REQUISITES
  There is no prerequisite or co-requisite for this course.
 -- RECOMMENDED OPTIONAL PROGRAMME COMPONENTS
  There is no recommended optional programme component for this course.
 --COURSE CONTENT
1. Week  Molecular and biochemical basis of genetic disease
2. Week  Hemoglobinopathies: Qualitative Abnormalilities
3. Week  Hemoglobinopathies: Quantative Abnormalities
4. Week  Molecular analysis methods of hemoglobin disorders
5. Week  Hereditary metabolic diseases related to enzyme disorders
6. Week  Metabolic disorders of pyrimidine and purine metabolism
7. Week  Lysosomal storage disease
8. Week  Presentation assignment
9. Week  Midterm
10. Week  Structural protein disorders
11. Week  Molecular biology of membrane transport disorders
12. Week  Molecular biology of receptor mutation disorders
13. Week  Diseases related to cofactor metabolism disorders
14. Week  Molecular biological methods used in the diagnosis of hereditary metabolic diseases
15. Week  Mitochondrial Diseases
16. Week  Final exam
 -- RECOMMENDED OR REQUIRED READING
  Robert L. Nussbaum, Roderick R. McInnes, Huntigton F. Willard, Ada Hamosh, Thompson & Thompson genetics in medicine (Ed.8th), Elsevier, USA, 2016.
 -- PLANNED LEARNING ACTIVITIES AND TEACHING METHODS
  Lecture, Question & Answer, Demonstration
 -- WORK PLACEMENT(S)
  -
 -- ASSESSMENT METHODS AND CRITERIA
 
Quantity
Percentage
 Mid-terms
1
30
 Assignment
1
10
 Exercises
0
0
 Projects
0
0
 Practice
0
0
 Quiz
0
0
 Contribution of In-term Studies to Overall Grade  
40
 Contribution of Final Examination to Overall Grade  
60
 -- WORKLOAD
 Efficiency  Total Week Count  Weekly Duration (in hour)  Total Workload in Semester
 Theoretical Study Hours of Course Per Week
13
2
26
 Practising Hours of Course Per Week
0
0
0
 Reading
13
2
26
 Searching in Internet and Library
13
2
26
 Designing and Applying Materials
0
0
0
 Preparing Reports
0
0
0
 Preparing Presentation
7
2
14
 Presentation
1
1
1
 Mid-Term and Studying for Mid-Term
8
4
32
 Final and Studying for Final
6
5
30
 Other
0
 TOTAL WORKLOAD: 
155
 TOTAL WORKLOAD / 25: 
6.2
 ECTS: 
6
 -- COURSE'S CONTRIBUTION TO PROGRAM
NO
PROGRAM LEARNING OUTCOMES
1
2
3
4
5
1X
2
3X
4
5X
6X
7X
8X
9X
10X