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Description of Individual Course Units

Course Unit Code Course Unit Title Type Of Course D U L ECTS TBG 6106 THE GENETIC MECHANISMS OF DISEASES ELECTIVE 2 0 0 8

Offered By

Medical Biology and Genetics

Level of Course Unit

Third Cycle Programmes (Doctorate Degree)

Course Coordinator

PROFESSOR DOCTOR SULTAN CINGÖZ

Offered to

Doctorate Program Rare Diseases Medical Biology and Genetics

Course Objective

To acquire advance knowledge on DNA damage & repair mechanisms To conceptually understand of the biology and biochemistry of DNA damage To be understanded of the relationship between diseases and DNA variations

Learning Outcomes of the Course Unit

1   Discusses the effect of DNA damage in cells 2   Describes and compares base excision and nucleotide excision repair mechanisms. 3   Knows the features of transcription coupled DNA repair. 4   Explains DNA damage & its repair 5   Describes and compares homologous recombination and non-homologous end joining mechanisms. 6   Inhereted mutations and diseases 7   de novo mutations and diseases 8   Mutations and their relationship with genome and epigenome 9   Detection of the mutations in disease related genes 10   Reviewof the international publications for genetic diseases 11   Mutations screening methods 12   Bioinformatic analysis and evaluation of results for diseases and mutations

Mode of Delivery

Face -to- Face

Prerequisites and Co-requisites

None

Recomended Optional Programme Components

None

Course Contents

Week Subject Description 1 Introduction of the cours 2 the effect of DNA damage in cells 3 Describes and compares base excision and nucleotide excision repair mechanisms. 4 The features of transcription coupled DNA repair. 5 Describes and compares homologous recombination and non-homologous end joining mechanisms. 6 Inherited variations and diseases 7 de novo variations and diseases 8 Homework presentation 9 Genomic variations and their relationship with genome and epigenome 10 the variations in disease related genes 11 Review of the international publications for genetic diseases 12 Variations including mutations screening methods 13 Gene mapping 14 Bioinformatic analysis and evaluation of results for diseases and mutations 15 Final exam

Recomended or Required Reading

Textbook(s):The genetics of the diseases The basic on genes and genetic disorders Molecular medicine Supplementary Book(s):Molecular biology of the cell The cell, Human molecular genetics Related international articles

Planned Learning Activities and Teaching Methods

Assessment Methods

SORTING NUMBER SHORT CODE LONG CODE FORMULA 1 PRF PERFORMANCE 2 FIN FINAL EXAM 3 FCG FINAL COURSE GRADE PRF * 0.40 + FIN*0.60 4 RST RESIT 5 FCGR FINAL COURSE GRADE (RESIT) PRF * 0.40 + FCGR*0.60

Further Notes About Assessment Methods

None

Assessment Criteria

To be announced.

Language of Instruction

Turkish

Course Policies and Rules

To be announced.

Contact Details for the Lecturer(s)

Office 4124604 secr:4124600

Office Hours

Monday- All day

Work Placement(s)

None

Workload Calculation

Activities Number Time (hours) Total Work Load (hours) Lectures 14 2 28 Preparations before/after weekly lectures 1 3 3 Preparation for final exam 1 6 6 Preparation for midterm exam 14 3 42 Preparing Presentations 14 8 112 Final 1 3 3 Midterm 1 3 3 TOTAL WORKLOAD (hours) 197

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 PO.9 LO.1 1 LO.2 1 LO.3 1 LO.4 1 LO.5 2 LO.6 2 LO.7 2 LO.8 2 LO.9 2 3 LO.10 2 LO.11 2 3 LO.12 2 3