Information Package / Course Catalogue
Molecylar Mechanisms of Inherited Diseases
Course Code: BYL446
Course Type: Area Elective
Couse Group: First Cycle (Bachelor's Degree)
Education Language: Turkish
Work Placement: N/A
Theory: 2
Prt.: 0
Credit: 2
Lab: 0
ECTS: 3
Objectives of the Course

To teach molecular mechanisms of inherited diseases and methods of gene therapies

Course Content

Inherited diseases, responsible genes, their mechanisms and therapies

Name of Lecturer(s)
Learning Outcomes
1.Able to understand about inherited diseases in human
2.Able to learn the methods used in identification of genes responsible in inherited diseases
3.Able to comprehend that what kind of results occur in changes of genes
4.Able to comprehend molecular and metabolic mechanisms of inherited diseases
5.Able to understand the gene therapy methods used in therapy of inherited diseases and cancer therapy
Recommended or Required Reading
1.Lecture notes
2.Molecular Basis of Inherited Diseases, ISBN:0-19-963307-X
3.An Introduction to Human Molecular Genetics- Mechanisms of Inherited Diseases, ISBN: 1-891786-03-2
Weekly Detailed Course Contents
Week 1 - Theoretical
An introduction to inherited diseases
Week 2 - Theoretical
Genes and Markers
Week 3 - Theoretical
Locating Genes
Week 4 - Theoretical
Identification of Genes in Human Inherited Diseases
Week 5 - Theoretical
Transport abnormalities; Cystic fibrosis (oral exam)
Week 6 - Theoretical
Mutations in a subunit of a protein: Thalessemia
Week 7 - Theoretical
Enzyme defects: aminoacidopathy-(phenylketonuria), lysosomal storage diseases-(Tay-Sacs disease)
Week 8 - Theoretical
Damages in the growth and differentiation proteins: inherited mammary and ovarian cancers- Midterm Exam
Week 9 - Theoretical
Therapy of metabolic disorders
Week 10 - Theoretical
Therapy of metabolic disorders-2
Week 11 - Theoretical
Therapy with the control of regulation of gene expression
Week 12 - Theoretical
Therapy with somatic genome transplantation
Week 13 - Theoretical
Gene therapy in cancer
Week 14 - Theoretical
Applications of gene therapy
Assessment Methods and Criteria
Type of AssessmentCountPercent
Attending Lectures1%5
Verbal Examination1%5
Midterm Examination1%30
Final Examination1%60
Workload Calculation
ActivitiesCountPreparationTimeTotal Work Load (hours)
Lecture - Theory140228
Midterm Examination120121
Final Examination125126
TOTAL WORKLOAD (hours)75
Contribution of Learning Outcomes to Programme Outcomes
PÇ-1
PÇ-2
PÇ-3
PÇ-4
PÇ-5
PÇ-6
PÇ-7
PÇ-8
PÇ-9
PÇ-10
PÇ-11
PÇ-12
PÇ-13
PÇ-14
PÇ-15
OÇ-1
4
4
3
OÇ-2
3
3
3
OÇ-3
4
3
4
3
OÇ-4
4
3
3
3
OÇ-5
4
4
4
3
Adnan Menderes University - Information Package / Course Catalogue
2026