Genetics and Epigenetics

Teaching Methodologies

– Use of multimedias for expository and interactive lessons.
– Remote teaching may occur in some content (<15 hours).
– Group work for presentation and discussion of scientific articles.
– Individual and group resolution of proposed problems.
– Viewing and discussion of films related with the course.
– The recommended bibliography for the discipline is provided in beginning of the school year as well the professor’s weekly timetable to attend students. It is also possible for the student to schedule an individual assistance.
– The assessment will be done through group work – TP component (40% weight in the final score) and one writing intermediate test, which can dispense exam (consultation not allowed).
Each evaluation element requires minimum score of 9,5/20.
Final exam.
In exceptional situations the teacher reserves the right to use complementary evaluation tools.

Learning Results

The student must have knowledge about the terms related to the various segments of genetics and also know the basics of genetics necessary to understand the biological processes of the human body and the transfer characteristics between individuals.
The student should acquire skills to synthesize and communicate information using appropriate methodologies; develop a critical attitude towards work, as well as ability to expand his knowledge in the context of genetics in Dietetics and Nutrition.

Program

THEORETICAL PROGRAM
1 – Classical genetics
2- Types of Heredity
Autosomal dominant and recessive inheritance; linked to heterochromosomes and mitochondrial
3 – Cytogenetics
Cell cycle
Chromosome morphology and classification
Human karyotype and its notation
4 – Numerical and structural chromosomal disorders
Change in the number and structure of chromosomes
5 – From genetic diversity to pathology
Mutation mechanisms and their classification
Syndromic and non-syndromic pathology
6 – Hereditary diseases of the metabolism
7 – Intervention areas
Genetic Diagnostics
Genetic counseling and heredograms
Gene therapy
8- Population Genetics
Hardy-Weinberg theorem
Frequencies: genotypic, phenotypic and allelic
9 – Epigenetics
X chromosome inactivation mechanisms
10 – Nutrigenetics, nutrigenomics and other “omics”
THEORETICAL-PRACTICAL PROGRAM
1 – DNA(RNA) manipulation methods
2 – Problem solving
3 – Presentation and discussion of articles and related works

Internship(s)

NAO

Bibliography

1. Genes IX, 2007. Benjamin Lewin. Jones & Bartlett Publishers, New York. USA.
2. Alberts, B., 2009. Biologia Molecular da Célula. 5ª Ed. Editora Artes Médicas.
3. Strachan, T., Read, A. P., 2013. Genética Molecular Humana. 4ª Ed. Editora Artemed.
4. Regateiro F.J. “Manual de Genética Médica”. Imprensa da Universidade, Coimbra, 2003.
5. Lewis, R., “Human Genetics – concepts and applications” 10th Ed., Mc Graw-Hill. USA, 2012.
6. Vogel F. e Motulsky A.G. “Human Genetics Problems and Approaches”. 4rd edition. Springer Verlag, Berlim, 2010.
7. Griffiths, Anthony J. F. – Introdução à genética. 10ª ed. Guanabara/Koogan, 2013. ISBN 9788527714976.
8. Gomes, C.A. Genética e Audição. Audiologia em Revista, Porto. ISBN 1646-9070. 1:2 (Dezembro, 2008) 107-117.
9. Harper, P.S. Practical Genetic Counselling, 6ª Ed. London: Arnold 2004.