Dokuz Eylül University Information Package / Courses Catalog

Description of Individual Course Units

Course Unit Code	Course Unit Title	Type Of Course	D	U	L	ECTS
KIM 4308	GENETIC VARIATION AND DISEASES	ELECTIVE	2	0	0	3

Offered By

Chemistry

Level of Course Unit

First Cycle Programmes (Bachelor's Degree)

Course Coordinator

PROFESSOR DOCTOR HÜLYA AYAR KAYALI

Offered to

Chemistry

Course Objective

Within the scope of this course; it is aimed for students to learn the fundamentals of genetics, the mechanisms of formation of genetic diseases, modern diagnostic methods, and current biotechnological applications.

Learning Outcomes of the Course Unit

1	Can explain the basic concepts of genetics and inheritance.
2	Explains the causes and mechanisms of genetic diseases.
3	Has knowledge about gene expression and genetic diagnostic methods.
4	Comprehends biotechnological approaches used in the diagnosis and treatment of genetic diseases.
5	Can evaluate the relationship of current genomic, proteomic, and metabolomic applications with genetic diseases.

Mode of Delivery

Face -to- Face

Prerequisites and Co-requisites

None

Recomended Optional Programme Components

None

Course Contents

Week	Subject	Description
1	Introduction to genetics and basic concepts
2	Inheritance patterns - I
3	Inheritance patterns - II
4	Genetic Diseases - I
5	Genetic Diseases - II
6	Gene Expression Analyses	PCR, qPCR, Microarrays, RNA-seq
7	Biomarkers and Diagnostic Tests	Definition of protein-, gene-, and metabolite-based biomarkers, their clinical importance, and an overview of the diagnostic tests used
8	Midterm Exam
9	Diagnostic Methods of Genetic Diseases - Genomic Technologies	Modern genomic approaches applied at the DNA and RNA level, next-generation sequencing technologies, and clinical genomic applications
10	Diagnostic Methods of Genetic Diseases - Proteomic Technologies	Methods for analyzing changes at the protein level, the role of proteomics in clinical diagnosis, and biomarker discovery
11	Diagnostic Methods of Genetic Diseases - Metabolomic Technologies	Analysis of cellular metabolism, basics of metabolomics, and clinical metabolomic applications
12	Current Biotechnological Applications	Targeted drug delivery systems, gene therapy
13	Treatment Methods in Genetic Diseases
14	Student presentations

Recomended or Required Reading

Main source: Julian C. Knight, Human Genetic Diversity: Functional Implications for Health and Disease, Oxford University Press, ISBN: 978-0-19-922769, 2009.
Supplementary Book(s): Rob Elles,Roger Mountford, Molecular diagnosis of genetic diseases, Humana Press, ISBN:1543-1894, 2004.

Planned Learning Activities and Teaching Methods

Presentation
Questions and answers
Homework
Practice

Assessment Methods

SORTING NUMBER	SHORT CODE	LONG CODE	FORMULA
1	MTE	MIDTERM EXAM
2	ASG	ASSIGNMENT
3	PAR	PARTICIPATION
4	FIN	FINAL EXAM
5	FCGR	FINAL COURSE GRADE (RESIT)	MTE * 0.30 + ASG * 0.20 + PAR * 0.10 + FIN * 0.40
6	RST	RESIT
7	FCGR	FINAL COURSE GRADE (RESIT)	MTE * 0.30 + ASG * 0.20 + PAR * 0.10 + RST * 0.40

Further Notes About Assessment Methods

None

Assessment Criteria

The learning of fundamental concepts given in the lectures, associating of concepts, constructing relationship between cause and effect, interpreting on the questions through current knowledge, and evaluation of idea production will be carried out by midterms, final exam, active participation to the lecture, home works.

Language of Instruction

Turkish

Course Policies and Rules

To be announced.

Contact Details for the Lecturer(s)

DEU Faculty of Science, Department of Chemistry
e-posta: hulya.kayali@deu.edu.tr

Office Hours

Wednesday 15.00-17.00

Work Placement(s)

None

Workload Calculation

Activities	Number	Time (hours)	Total Work Load (hours)
Lectures	13	2	26
Preparations before/after weekly lectures	5	1	5
Preparation for midterm exam	1	10	10
Preparation for final exam	1	15	15
Preparing assignments	1	15	15
Final	1	2	2
Midterm	1	2	2
TOTAL WORKLOAD (hours)			75

Contribution of Learning Outcomes to Programme Outcomes

PO/LO	PO.1	PO.2	PO.3	PO.13	PO.14	PO.16	PO.17
LO.1	3			3	3	4	3
LO.2		2		3	3	4	3
LO.3				3	3	3	3
LO.4	3		2	3	3	3	3
LO.5	3			3	3	3	3

COURSE UNIT TITLE

DEGREE PROGRAMMES

Description of Individual Course Units

Offered By

Level of Course Unit

Course Coordinator

Offered to

Course Objective

Learning Outcomes of the Course Unit

Mode of Delivery

Prerequisites and Co-requisites

Recomended Optional Programme Components

Course Contents

Recomended or Required Reading

Planned Learning Activities and Teaching Methods

Assessment Methods

Further Notes About Assessment Methods

Assessment Criteria

Language of Instruction

Course Policies and Rules

Contact Details for the Lecturer(s)

Office Hours

Work Placement(s)

Workload Calculation

Contribution of Learning Outcomes to Programme Outcomes

CONTACT INFORMATION