course-details-portlet

MOL3001 - Medical Genetics

About

Examination arrangement

Examination arrangement: Written examination
Grade: Letters

Evaluation form Weighting Duration Examination aids Grade deviation
Written examination 100/100 4 hours D

Course content

The course will give an overview of mechanisms for development of genetic diseases. Topics include different patterns of inheritance, like dominant, recessive, autosomal and sex linked inheritance. Genetic diseases will be classified in single-gene, chromosomal and multifactorial disorders. It will be discussed how identification of genes and variants in the genome, including gene mapping, make it possible to understand how variation can lead to disease.

Learning outcome

After completing the course MOL3001, the student should be able to:
- point out central examples of monogenic, polygenic and chromosomal disorders
- demonstrate good knowledge about early developmental genetics including gastrulation
- discriminate between different patterns of mendelian inheritance of monogenic diseases, and outline genetic and biochemical mechanisms of some central monogenic disorders
- demonstrate a strong background in mechanisms underlying numerical and structural chromosomal aberrations and principles mediating chromosomal disease
- describe main principles in immunogenetics
- outline what genetic counselling is, why and when it is necessary to give genetic counselling, and how it is regulated in different countries
- perform risk assessment and calculate risk of being a mutation carrier
- discuss bioethical issues in medical genetics in an international environment
- outline central principles and examples of both sporadic and hereditary cancers
- explain principles for methods of genetic diagnosis, i.e. gene tests and cytogenetic methods, and be able to decide in which types of genetic diseases the different methods are used
- predict correct nomenclature for gene and chromosomal variants
- understand and explain principles and methods for gene mapping
- calculate frequencies of genetic variants at the population level

Learning methods and activities

Lectures, student presentations, exercises and alternative methods for teaching and learning like Team based Learning (TBL).
All teaching activities and the exam will be in English.

Compulsory assignments

  • Exercises

Further on evaluation

Retake of the whole exam.

The language of instruction is English, and the exam must be answered in English.

In the postponed exam, if few candidates alternative examination can be considered

Specific conditions

Exam registration requires that class registration is approved in the same semester. Compulsory activities from previous semester may be approved by the department.

Course materials

Will be announced at the start of the course.

Credit reductions

Course code Reduction From To
TBT4146 5.0 01.09.2018
More on the course

No

Facts

Version: 1
Credits:  7.5 SP
Study level: Second degree level

Coursework

Term no.: 1
Teaching semester:  SPRING 2021

Language of instruction: English

Location: Trondheim

Subject area(s)
  • Molecular Medicine
  • Biotechnology/Molecular Genetics
  • Biochemistry
  • Biology
  • Cell Biology
  • Chemistry
  • Medicine
Contact information
Course coordinator: Lecturer(s):

Department with academic responsibility
Department of Clinical and Molecular Medicine

Phone:

Examination

Examination arrangement: Written examination

Term Status code Evaluation form Weighting Examination aids Date Time Digital exam Room *
Spring ORD Written examination 100/100 D
Room Building Number of candidates

Examination arrangement: Home examination

Term Status code Evaluation form Weighting Examination aids Date Time Digital exam Room *
Autumn UTS Home examination 100/100

Release 2020-12-18

Submission 2020-12-18

Release 09:00

Submission 13:00

INSPERA
Room Building Number of candidates
  • * The location (room) for a written examination is published 3 days before examination date. If more than one room is listed, you will find your room at Studentweb.
Examination

For more information regarding registration for examination and examination procedures, see "Innsida - Exams"

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