course-details-portlet

MOL3001 - Medical Genetics

About

Examination arrangement

Examination arrangement: School exam
Grade: Letter grades

Evaluation Weighting Duration Grade deviation Examination aids
School exam 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

Knowledge

The candidate can

  • point out central examples of monogenic, polygenic and chromosomal disorders
  • demonstrate good knowledge about early developmental genetics including gastrulation
  • 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
  • explain principles for methods of genetic diagnosis, i.e. gene tests and cytogenetic methods
  • outline central principles and examples of both sporadic and hereditary cancers
  • understand and explain principles and methods for gene mapping
  • outline what genetic counselling is, and how it is regulated in different countries

Skills

The candidate can

  • discriminate between different patterns of mendelian inheritance of monogenic diseases,
  • predict correct nomenclature for gene and chromosomal variants
  • decide why and when it is necessary to give genetic counselling,
  • perform risk assessment and calculate risk of being a mutation carrier
  • calculate frequencies of genetic variants at the population level

Competence

The candidate can use the knowledge and skills to

  • decide in which types of genetic diseases the different genetic diagnostic methods are used
  • discuss bioethical issues in medical genetics in an international environment
  • discuss and orally present scientific papers within the field of medical genetics

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.

Students with legitimate leave of absence at the final examination and students who receive the grade F may re-sit the examination in the following semester.

Course materials

Will be announced at the start of the course.

Credit reductions

Course code Reduction From To
TBT4146 5.0 AUTUMN 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 2024

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

Examination

Examination arrangement: School exam

Term Status code Evaluation Weighting Examination aids Date Time Examination system Room *
Autumn UTS School exam 100/100 D 2023-11-23 09:00 INSPERA
Room Building Number of candidates
SL310 turkis sone Sluppenvegen 14 3
Spring ORD School exam 100/100 D 2024-05-23 15:00 INSPERA
Room Building Number of candidates
SL311 Sluppenvegen 14 38
  • * 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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