Aim and Content

Aim:

- To gain insight in the characteristics of genetic considerations

- To be able to explain the advantages and limitations of different genetic tests

- To understand basic genetic and biological principles, and understand how these may contribute to diseases

- To be able to calculate the repetitive risk of various genetic conditions

- To be able to use electronic tools

Contents:

Genetics is the study of heredity and variations of heredity. Medical genetics focus on the part of heredity relevant for the human being, mainly disorders. The teaching emphasizes those parts relevant for practical genetic counseling.

The field of medical genetics consists of genetic laboratory diagnostics (molecular genetics, cytogenetic and biochemical diagnostics) and clinical genetics (patient focused genetic consideration and follow-up).

The course include the basis for heredity (DNA and chromosomes), Mendelian inheritance in families and distribution and changes of genes in the community. Use of DNA and chromosome analyses when working with hereditary diseases is emphasized. Important diseases illustrating medical-genetic principles and mechanisms are reviewed.

The students will gain a critical analytical attitude towards the study field and the conditions and challenges one meets.

Learning Outcomes

After completing the course, the students should be able to

- show understanding and insight in cyto- and molecular genetics

- understand and explain basic principles for genetics, heredity, cell biology and embryology

- explain basic genetic and biological principles and how these may contribute to diseases

- assess and interpret the advantages and limitations with various genetic tests and techniques

- perform independent calculations when calculating the repetitive risk of different genetic disorders and syndromes

- recognize the most common genetic disorders and syndromes

- show insight and knowledge about what characterize consideration of prenatal diagnostic, rare genetic diseases and frequent genetic conditions, and maintain a critical analytical level of reflection related to the different perspectives of this field

- use electronic tools when obtaining knowledge about genetic disorders

Course offered (semester)

Spring, every second year (odd numbers)

Course Unit Level

Master

Pre-requirements

Bachelor in health sciences

Teaching Methods

Lectures

Seminars

Colloquia

48 hours in total

Compulsory Requirements

Compulsory presentation of colloquia assignments

Assessment methods

Individual 4 hours written exam.

Internal and external examiner

Grading Scale

Grading scale A-F

Course Unit Evaluation

Oral plenary and individual written evaluation