2nd Cycle Studies - Mestrado
The objectives of this Course Unit in Human Genetics were delineated taking in consideration that students have the technical and theoretical knowledge in Cellular and Molecular Biology and Bioquemistry. The student should be able to read and understand papers or other bibliography in English.
Theoretical classes; Theoretical/Practical classes; discussion of different topics of genetics with students;resolution of problem-cases, guidance in the resolution of case-problems, scientific papers and topics discussion through a interactive game "In pursuit of Genetics".
Understand the fundaments in human genetics
Evaluate and identify the different technological tools in the field of human genetics
Understand the fundaments in human cytogenetics
Understand theimportance of population genetics
Understand the importance of genomics, the science that analyses and compares complete genomes or a large set of genes simultaneously, in different fields, namely in the field of medicine.
Understand gene mapping and genetic diseases
Understand the fundaments of forensic genetics
Analyse the state of the art in Human Genetics research; ethics and implications for the society.
History and evolution of human genetics
Mendelien and non-Mendelian inheritance
heredrograms and forms of genetic transmission
Technologies of recombinant DNA and their application in diagnosis
Chromosomes in diagnosis: Numerical alterations, mosaicism. Balanced and unbalanced chromosomal alterations.
applications in prenatal and post natal diagnosis.
Human genome Project
beyond the Human genome project: Proteomic; Metabolomic; Transcriptomic; Nutriomic; Microbiomic; Patomic; Poliomic
Metabolopaties: diagnosis , therapeutics and genetic counselling
Isabel Maria Marques Carreira
Mini Tests: 5.0%
Resolution Problems: 10.0%
Synthesis work: 15.0%
1. Tom Strachan and Andrew Read. Human. Molecular Genetics, 3rd edition. Garland Science, NY, USA.
2. Michael Connor and M. Ferguson Smith. Essential Medical Genetics, 5th edition. Blackwel Publishing, Victoria, Australia.
Scientific articles on the diferent topics