Genetics II

Objectives

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.

Program

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.

Teaching Methodologies

Theoretical, theoretical-practical and practical teaching.
Assessment:
Exam:75%
Test:25%

Bibliography

- Emery's Elements of Medical genetics, 14th edition. Turnpenny and Ellard. Churchill Livingstone, 2011.
- Human Molecular Genetics, 4th 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, 4th edition. Jorde, Carey and Bamshad. Mosby, 2010.
- Essentials of Genetics, 7th edition. Klug, Cummings, Spencer and Palladino. Perason, 2010.
- Practical Genetic Counselling, 7th edition. Peter S. Harper. Hodder Arnold, 2010.
- Introduction to Risk Calculation in Genetic Counselling, 3rd edition. Ian D, Young. Oxford University Press, 2007.
- Epigenetics. Wallach, Lan and Schrauzer. Select Books Inc, 2014