Medical Genetics

Code:

212

Acronym:

212

Instance: 2003/2004 - A

Active?	Yes
Course/CS Responsible:

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MD	40	Plano oficial a partir de 2000	2	6	13	-

Objectives

The role of Genetics in medicine, theoretical and practical applications of knowledge in Medical Genetics (from gene to disease and patient).
Ethical considerations of the dilemmas on Medical Genetics.

Program

-Historical evolution and introduction to Medical Genetics.
-Mendelean inheritance.
-Non-mendelean inheritance.
-Chromosome organisation of the genome.
-Cytogenetics techniques.
-Autosomic chromosomopathies
-Heterosomic chromosomopathies
-Population genetics
-Multifactorial heredity disorders.
-Mutagenesis
-Teratogenesis, congenital malformations
-Cystic fibrosis.
-The Genetics of cancer.
-PAF and Machado Joseph disease
-Gene therapy.
-Genetic counselling.
-Eugenism. Ethical principles on the intervention of geneticists.

Main Bibliography

- Medical Genetics, Geor Sack, McGraw-Hill
-Principles of Medical Genetics, T. Gelehnter, William Wilkins
-Human Genetics, Ricki Lewis, McGraw-Hill

Teaching methods and learning activities

-Theoretical classes
-Theoretical/practical classes
-Annual Total – 52 Theoretical classes
40 hours Theoretical/practical classes

Evaluation Type

Evaluation with final exam