Information Package

Ph.D. on Medical Genetics

GEN662

INHERITED METABOLIC DISEASES

Course Code
GEN662
Semester
-
Theory+Practice
2 + 0
ECTS
10
Course TypeElective Course
Course LevelDoctorate Of Science
Year of Study-
Semester-
ECTS10
Name of Lecturer(s)
Learning Outcomes

At the end of this course, the students;

  1. Knows the metabolic pathways associated with inherited metabolic diseases,
  2. Knows the tissue and organ systems affected by inherited metabolic diseases,
  3. Knows diagnostic methods in hereditary metabolic diseases,
  4. Knows the genetic counseling method in hereditary metabolic diseases.
Mode of DeliveryFace to face
PrerequisitesNo
Recommended Optional Programme ComponentsNone
Course DescriptionStudents are expected to become familiar with the molecular, biochemical and genetic basis of inherited metabolic diseases, the organs and pathways related to metabolic disorders, and understand the experimental methods used to diagnose these disorders. In addition, they are expected to gain the capacity to evaluate different clinical approaches and genetic consulting related to inherited metabolic disorders.
Course Contents Students are expected to become familiar with the molecular, biochemical and genetic basis of inherited metabolic diseases, the organs and pathways related to metabolic disorders, and understand the experimental methods used to diagnose these disorders. In addition, they are expected to gain the capacity to evaluate different clinical approaches and genetic consulting related to inherited metabolic disorders.
Recommended or Required Reading1. Thompson &Thompson Genetics in Medicine 8th Edition, Nussbaum R.L., McInnes R.R., Willard H.F., Saunders Elsevier, Philadelphia, PA, 2016.
Planned Learning Activities and Teaching Methods
  • Lecture
  • Discussion
  • Questions/Answers
  • Presentation
  • Report Preparation
Assessment Methods and Criteria
Quantity Percentage (%)
Mid-term 1 30
Assignment 1 20
Total(%) 50
Contribution of In-term Studies to Overall Grade(%) 50
Contribution of Final Examination to Overall Grade(%) 50
Total(%) 100
ECTS Allocated Based on Student Workload
Activities Quantity Duration (Hour) Total Workload (Hour)
Midterm exam 1 2 2
Preparation for Quiz 2 3 6
Individual or group work 14 5 70
Preparation for Final exam 1 30 30
Course hours 14 3 42
Preparation for Midterm exam 1 20 20
Laboratory (including preparation)
Final exam 1 2 2
Homework 4 32 128
Total Work Load300
Total Work Load / 30 (h)10
ECTS Credit of the Course10
Language of InstructionTurkish
Work Placement(s)No
LO1 LO2 LO3 LO4
K1 X X X
K2 X X X X
K3
K4
K5 X
K6 X X X X
K7 X X X X
K8 X X X X
K9 X X X X