course-details-portlet

MOL3001 - Medisinsk genetikk

Om emnet

Vurderingsordning

Vurderingsordning: Skriftlig skoleeksamen
Karakter: Bokstavkarakterer

Vurdering Vekting Varighet Delkarakter Hjelpemidler
Skriftlig skoleeksamen 100/100 4 timer D

Faglig innhold

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.

Læringsutbytte

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

Læringsformer og aktiviteter

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.

Obligatoriske aktiviteter

  • Øvinger

Mer om vurdering

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.

Kursmateriell

Will be announced at the start of the course.

Studiepoengreduksjon

Emnekode Reduksjon Fra Til
TBT4146 5.0 HØST 2018
Flere sider om emnet

Ingen

Fakta om emnet

Versjon: 1
Studiepoeng:  7.5 SP
Studienivå: Høyere grads nivå

Undervisning

Termin nr.: 1
Undervises:  VÅR 2024

Undervisningsspråk: Engelsk

Sted: Trondheim

Fagområde(r)
  • Molekylærmedisin
  • Bioteknologi/Molekylærgenetikk
  • Biokjemi
  • Biologi
  • Cellebiologi
  • Kjemi
  • Medisin
Kontaktinformasjon
Emneansvarlig/koordinator: Faglærer(e):

Ansvarlig enhet
Institutt for klinisk og molekylær medisin

Eksamensinfo

Vurderingsordning: Skriftlig skoleeksamen

Termin Statuskode Vurdering Vekting Hjelpemidler Dato Tid Eksamens- system Rom *
Høst UTS Skriftlig skoleeksamen 100/100 D 23.11.2023 09:00 INSPERA
Rom Bygning Antall kandidater
SL310 turkis sone Sluppenvegen 14 3
Vår ORD Skriftlig skoleeksamen 100/100 D 23.05.2024 15:00 INSPERA
Rom Bygning Antall kandidater
SL311 Sluppenvegen 14 38
  • * Skriftlig eksamen plasseres på rom 3 dager før eksamensdato. Hvis mer enn ett rom er oppgitt, finner du ditt rom på Studentweb.
Eksamensinfo

For mer info om oppmelding til og gjennomføring av eksamen, se "Innsida - Eksamen"

Mer om eksamen ved NTNU