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Description of Individual Course Units

Course Unit Code Course Unit Title Type Of Course D U L ECTS MBG 6115 ADVANCED HUMAN GENETICS AND GENOMICS ELECTIVE 3 0 0 12

Offered By

Molecular Biology and Genetics

Level of Course Unit

Third Cycle Programmes (Doctorate Degree)

Course Coordinator

ASSISTANT PROFESSOR YAVUZ OKTAY

Offered to

Molecular Biology and Genetics Molecular Biology and Genetics

Course Objective

To have a robust understanding of the molecular basis of human genetics and ethical and legal issues associated with genetic analysis.

Learning Outcomes of the Course Unit

1   to explain the structural and functional organization of the human genome 2   to discuss the sources and consequences of genetic variation 3   to compare and contrast the molecular basis of single-gene and complex diseases 4   o describe methods used in genetic analysis of human diseases 5   to discuss the ethical and legal issues associated with study and genetic/genomic analysis of human diseases 6   to present research findings in an effective manner

Mode of Delivery

Face -to- Face

Prerequisites and Co-requisites

None

Recomended Optional Programme Components

None

Course Contents

Week Subject Description 1 Fundamentals of Gene Structure, Gene Expression, and Human Genome Organization 2 Principles of Genetic Variation 3 Single-gene Disorders: Inheritance Patterns, Phenotype Variability, and Allele Frequencies 4 Principles of Gene Regulation and Epigenetics - I 5 Principles of Gene Regulation and Epigenetics - II 6 Genetic Variation Producing Disease-Causing Abnormalities in DNA and Chromosomes - I 7 Genetic Variation Producing Disease-Causing Abnormalities in DNA and Chromosomes - II 8 MIDTERM 9 Identifying Disease Genes and Genetic Susceptibility to Complex Disease - I 10 Identifying Disease Genes and Genetic Susceptibility to Complex Disease - II 11 Genetic Approaches to Treating Disease - I 12 Genetic Approaches to Treating Disease - II 13 Cancer Genetics and Genomics 14 Genetic Testing From Genes to Genomes, and the Ethics of Genetic Testing and Therapy 15 Assignment Presentations 16 Final Exam

Recomended or Required Reading

Textbook(s): Genetics and Genomics in Medicine, by Tom Strachan, Judith Goodship, Patrick Chinnery. Garland Science, 2014 ISBN: 9780815344803 Supplementary Book(s): Genomic Medicine: Principles and Practice, Edited by Dhavendra Kumar and Charis Eng, Oxford University Press, 2014 ISBN: 9780199896028

Planned Learning Activities and Teaching Methods

Theoretical lecture with PowerPoint, literature review/discussion and assignment presentations by students

Assessment Methods

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

Further Notes About Assessment Methods

None

Assessment Criteria

To be announced.

Language of Instruction

English

Course Policies and Rules

To be announced.

Contact Details for the Lecturer(s)

Yavuz.oktay@deu.edu.tr Phone: 412 6555

Office Hours

To be announced.

Work Placement(s)

None

Workload Calculation

Activities Number Time (hours) Total Work Load (hours) Lectures 15 2 30 Tutorials 15 2 30 Preparations before/after weekly lectures 15 4 60 Preparation for midterm exam 1 15 15 Preparation for final exam 1 25 25 Preparing assignments 1 30 30 Preparing assignments 1 40 40 Preparing presentations 15 5 75 Final 1 2 2 Midterm 1 3 3 TOTAL WORKLOAD (hours) 310

Contribution of Learning Outcomes to Programme Outcomes

PO/LO PO.1 PO.2 PO.3 PO.4 PO.5 PO.6 PO.7 PO.8 LO.1 4 LO.2 4 LO.3 2 LO.4 2 LO.5 2 LO.6 2