MEDICINE
Bachelor TR-NQF-HE: Level 6 QF-EHEA: First Cycle EQF-LLL: Level 6

Course Introduction and Application Information

Course Code Course Name Semester Theoretical Practical Credit ECTS
MED2011 Medical Genetics I Fall 2 0 2 2

Basic information

Language of instruction: English
Type of course: Must Course
Course Level: Bachelor’s Degree (First Cycle)
Mode of Delivery:
Course Coordinator : Dr. Öğr. Üyesi TİMUÇİN AVŞAR
Course Lecturer(s): Dr. Öğr. Üyesi TİMUÇİN AVŞAR
Recommended Optional Program Components: None
Course Objectives: To achieve the clinical basis of medical genetics, to learn about molecular and cytogenetic basis of genetic diseases, to discover the inheritance module of clinical traits, to learn about the polymorphic basis of human genome chracteristics.

Learning Outcomes

The students who have succeeded in this course;
1) Second year medical students will achieve the ability to evaluate the basic genomic structure of genetic diseases.
2) Medical students will gain the ability to structure the family trees and identify inheritance modules of the diseases.
3) To evaluate the polymorphic genetic characteristics of human

Course Content

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Weekly Detailed Course Contents

Week Subject Related Preparation
1) The Human Genome and the Chromosomal Basis of Heredity-I -
2) Aplication: The Human Genome and the Chromosomal Basis of Heredity -
3) Tools of Human Molecular Genetics-I -
4) Aplication: Tools of Human Molecular Genetics -
5) Principles of Clinical Cytogenetics-I -
6) Aplication: Principles of Clinical Cytogenetics -
7) Disorders of the Autosomes and Sex Chromosomes-I -
8) Aplication: Disorders of the Autosomes and Sex Chromosomes -
9) Patterns of Single-Gene Inheritance -
10) Aplication: Patterns of Single-Gene Inheritance -
11) The Molecular, Biochemical and Cellular Basis of Genetic Disease-I -
12) Aplication:The Molecular, Biochemical and Cellular Basis of Genetic Disease -
13) Genetic Variation in Individuals and Populations: Mutations and Polymorphism-I -
14) Aplication: Genetic Variation in Individuals and Populations: Mutations and Polymorphism -

Sources

Course Notes / Textbooks: 1) Nussbaul RL, McInnes RR, Willard HF. Thompson&Thompson Genetics in Medicine in Medicine; Seventh Edition 2007, SAUNDERS ELSEVIER
2) Turnpenny PD, Ellard S. Emery's Elements of Medical Genetics; 14th Edition 2012, ELSEVIER CHURCHILL LIVINGSTONE
References: Genetics Home Reference: ghr. nlm.nih.gov

Evaluation System

Semester Requirements Number of Activities Level of Contribution
Midterms 1 % 40
Final 1 % 60
Total % 100
PERCENTAGE OF SEMESTER WORK % 40
PERCENTAGE OF FINAL WORK % 60
Total % 100

ECTS / Workload Table

Activities Number of Activities Duration (Hours) Workload
Course Hours 7 2 14
Application 7 2 14
Study Hours Out of Class 7 1 7
Presentations / Seminar 1 5 5
Homework Assignments 2 2 4
Midterms 1 3 3
Final 1 3 3
Total Workload 50

Contribution of Learning Outcomes to Programme Outcomes

No Effect 1 Lowest 2 Low 3 Average 4 High 5 Highest
           
Program Outcomes Level of Contribution
1) Integrates the knowledge, skills and attitudes acquired from basic and clinical medical sciences, behavioral sciences and social sciences, and uses them in health service delivery. 4
2) In patient management, shows a biopsychosocial approach that takes into account the socio-demographic and sociocultural background of the individual, regardless of language, religion, race and gender. 3
3) In the provision of health services, prioritizes the protection and development of the health of individuals and society. 5
4) Taking into account the individual, societal, social and environmental factors affecting health; does the necessary work to maintain and improve the state of health. 3
5) By recognizing the characteristics, needs and expectations of the target audience, provides health education to healthy/sick individuals and their relatives and other healthcare professionals. 1
6) Shows a safe, rational and effective approach in health service delivery, prevention, diagnosis, treatment, follow-up and rehabilitation processes. 4
7) Performs invasive and/or non-invasive procedures in diagnosis, treatment, follow-up and rehabilitation processes in a safe and effective way for the patient. 4
8) Provides health services by considering patient and employee health and safety. 1
9) In the provision of health services, takes into account the changes in the physical and socioeconomic environment on a regional and global scale, as well as the changes in the individual characteristics and behaviors of the people who apply to it. 2
10) Takes good medical practice into account while carrying out his/her profession. 5
11) Fulfills its duties and obligations within the framework of ethical principles, rights and legal responsibilities required by its profession. 2
12) Demonstrates decisive behavior in providing high-quality health care, taking into account the integrity of the patient. 4
13) Evaluates his/her performance in his/her professional practice by considering his/her emotions and cognitive characteristics. 1
14) Advocates improving the provision of health services by considering the concepts of social reliability and social responsibility for the protection and development of public health. 1
15) Can plan and carry out service delivery, training and consultancy processes related to individual and community health in cooperation with all components for the protection and development of health. 1
16) Evaluates the impact of health policies and practices on individual and community health indicators and advocates increasing the quality of health services. 1
17) The physician attaches importance to the protection of his/her own physical, mental and social health, and does what is necessary for this 1
18) Shows exemplary behavior and leads the healthcare team during service delivery.
19) Uses resources cost-effectively, for the benefit of society and in accordance with the legislation, in the planning, implementation and evaluation processes of health services in the health institution he/she is the manager of.
20) Establishes positive communication within the health team it serves and assumes different team roles when necessary.
21) Is aware of the duties and responsibilities of the health workers in the health team and acts accordingly.
22) In the professional practices, works in harmony and effectively with the colleagues and other professional groups.
23) Communicates effectively with patients, their relatives, healthcare professionals, other professional groups, institutions and organizations.
24) Communicates effectively with individuals and groups that require a special approach and have different socio-cultural characteristics.
25) In the diagnosis, treatment, follow-up and rehabilitation processes, shows a patient-centered approach that associates the patient with the decision-making mechanisms.
26) Plans and implements scientific research, when necessary, for the population it serves, and uses the results and/or the results of other research for the benefit of the society. 2
27) Reaches and critically evaluates current literature knowledge about his/her profession. 3
28) Applies the principles of evidence-based medicine in clinical decision making. 5
29) Uses information technologies to increase the effectiveness of its work on health care, research and education.
30) Effectively manages individual work processes and career development.
31) Demonstrates skills in acquiring and evaluating new knowledge, integrating it with existing knowledge, applying it to professional situations and adapting to changing conditions throughout professional life. 3
32) Selects the right learning resources to improve the quality of the health service it offers, organizes its own learning process