Genetics II

Year
2

Academic year
2015-2016

Code
01014212

Subject Area
Morphology, Structure and Function

Language of Instruction
Portuguese

Mode of Delivery
Face-to-face

Duration
SEMESTRIAL

ECTS Credits
4.0

Type
Compulsory

Level
1st Cycle Studies

Recommended Prerequisites

Teachings of curricular units Genetic I.

Teaching Methods

Theoretical, theoretical-practical and practical teaching.

Learning Outcomes

To understand the relevance of family studies, family history and pedigree recording. To describe the most common inborn errors of metabolism. To know the relevance of pharmacogenetics for designing personalizedc drugs and therapies. To understand the basis of immunogenetics. To identify and describe the most frequent autosomal and sexual chromosomal disorders. To describe and understand the basis of common single gene disorders and multifactorial diseases. To know the relevance of genetics in behavior diseases. Identify and describe congenital abnormalities and the most frequent dismorphic syndromes. To know how to choose the right screening resources to identify genetic disorders. To undestand the basis of gene therapy for recessive, dominant and multifactorial conditions. Be able to perform genetic risk calculations and genetic counselling. Understand the most relevant ethical issues in medical genetics.

Work Placement(s)

Syllabus

Family history. Pedigree. Inborn errors of metabolism. Pharmacogenetics. Immunogenetics. Chromosomal disorders. Single gene disorders. Common diseases and genetics. Genetics and cancer. Genetics and behavior. Congenital abnormalities. Dismorphic syndromes. Screening for genetic disorders. Gene therapy. Genetic risks calculation. Gentic counselling. Ethical issues in medical genetics.

Head Lecturer(s)

Fernando Jesus Regateiro

Assessment Methods

Assessment
Mini Tests: 25.0%
Exam: 75.0%

Bibliography

- Emery's Elements of Medical genetics, 14^th edition. Turnpenny and Ellard. Churchill Livingstone, 2011.

- Human Molecular Genetics, 4^th edition. Tom Strachan and Andrew Read. Garland Science, 2011.

- Manual de Genética Médica, 1ª edição. Fernando J. Regateiro. Imprensa da Universidade de Coimbra, 2003.

- Medical Genetics, 4^th edition. Jorde, Carey and Bamshad. Mosby, 2010.

- Essentials of Genetics, 7^th edition. Klug, Cummings, Spencer and Palladino. Perason, 2010.

- Practical Genetic Counselling, 7^th edition. Peter S. Harper. Hodder Arnold, 2010.

- Introduction to Risk Calculation in Genetic Counselling, 3^rd edition. Ian D, Young. Oxford University Press, 2007.

- Epigenetics. Wallach, Lan and Schrauzer. Select Books Inc, 2014