1	Course Title:	MEDICAL GENETICS
2	Course Code:	TIP3016
3	Type of Course:	Compulsory
4	Level of Course:	First Cycle
5	Year of Study:	3
6	Semester:	6
7	ECTS Credits Allocated:	2
8	Theoretical (hour/week):	2
9	Practice (hour/week) :	0
10	Laboratory (hour/week) :	0
11	Prerequisites:	No
12	Recommended optional programme components:	None
13	Language:	Turkish
14	Mode of Delivery:	Face to face
15	Course Coordinator:	Öğr.Gör. Tıp Fakültesi Öğrenci İşleri
16	Course Lecturers:	Yrd. Doç. Dr. Tuna Gülten Doç. Dr. Tahsin Yakut
17	Contactinformation of the Course Coordinator:	tunag@uludag.edu.tr , Tel: 2954351 Uludağ Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalı Poliklinikler Binası Görükle / BURSA
18	Website:	http://tip.uludag.edu.tr/akademikegitimprogramlari.php
19	Objective of the Course:	Providing the medical students having the sufficient knowledge about the basic principles and clinical manifestations of human genetics.
20	Contribution of the Course to Professional Development

21

Learning Outcomes:

1 Understanding the basic principles of human genetics.; 2 Learning the genetic mechanisms in disease etiology ; 3 Having knowledge about the diagnosis, management and treatment of the genetic diseases; 4 Learning to approach to the genetic diseases in primary care medicine and ethical issues;

22	Course Content:

Week	Theoretical	Practical
1	The impact of genetics in medicine Gregor Mendel and the laws of inheritance
2	The human genome: Gene organization, function and regulation The human genome: Gene organization, function and regulation
3	Chromosome structure and organization in human Impact of genetic tests in diagnosis
4	Impact of genetic tests in diagnosis Mendelian inheritance, pedigree drawing and terminalogy
5	Single gene disorders Biochemical and molecular genetics of human disease
6	Genetic aspect of hemoglobinopathies Genotype-phenotype relationship in hemoglobinopathies
7	Genetics of common diseases Genetics of common diseases
8	Genetic basis and genotype-phenotype relationship in inborn errors of metabolism Genetic basis and genotype-phenotype relationship in inborn errors of metabolism
9	Prenatal diagnosis and genetic counseling Prenatal diagnosis and genetic counseling
10	Chromosome aberrations and human chromosomal disorders Terminology and classification of congenital abnormalities
11	Diagnostic approach to congenital abnormalities Cancer genetics
12	Cancer genetics Population genetics and consanguinity
13	Prevention and treatment of genetic disorders Ethical issues in medical genetics
14	Genetic disorders in primary care

23	Textbooks, References and/or Other Materials:	1- Nussbaum R. L., McInnes R. R., Willard F. H., Boerkoel C.F., ‘’ Thompson & Thompson, Genetics in Medicine’’, W.B Saunders Company., Sixth Edition (2001) 2- Turnpenny P. D., Ellard S., ‘’ Emery’s Elements of Medical Genetics’’, Elsevier Churchill Livingstone., Twelfth Edition (2005) 3- Gelehrter T. D., Collins F. S., Ginsburg D., ‘’ Principles of Medical Genetics ’’, Williams & Willkins., Second edition (1998)
24	Assesment

TERM LEARNING ACTIVITIES	NUMBER	PERCENT
Midterm Exam	1	40
Quiz	0	0
Homeworks, Performances	0	0
Final Exam	1	60
Total	2	100
Contribution of Term (Year) Learning Activities to Success Grade		40
Contribution of Final Exam to Success Grade		60
Total		100
Measurement and Evaluation Techniques Used in the Course
Information

25

ECTS / WORK LOAD TABLE

Activites	NUMBER	TIME [Hour]	Total WorkLoad [Hour]
Theoretical	14	2	28
Practicals/Labs	0	0	0
Self Study and Preparation	10	1	10
Homeworks, Performances	0	0	0
Projects	0	0	0
Field Studies	0	0	0
Midtermexams	1	10	10
Others	0	0	0
Final Exams	1	10	10
Total WorkLoad			58
Total workload/ 30 hr			1,93
ECTS Credit of the Course			2

26	CONTRIBUTION OF LEARNING OUTCOMES TO PROGRAMME QUALIFICATIONS
PQ1 PQ2 PQ3 PQ4 PQ5 PQ6 PQ7 PQ8 PQ9 PQ10 PQ11 PQ12 PQ13 PQ14 PQ15 PQ16 LO1 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 LO2 5 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 LO3 0 5 5 3 4 4 3 0 0 3 5 5 0 0 0 0 LO4 5 5 5 3 4 4 3 0 0 3 5 5 0 0 0 0

LO: Learning Objectives

PQ: Program Qualifications

Contribution Level:

1 Very Low

2 Low

3 Medium

4 High

5 Very High