Human Genetics

Recommended Prerequisites

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.

Teaching Methods

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".

Learning Outcomes

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.

Work Placement(s)

No

Syllabus

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.

Oncogenetics

Human genome Project

beyond the Human genome project: Proteomic; Metabolomic; Transcriptomic; Nutriomic; Microbiomic; Patomic; Poliomic

Complex hereditary

Metabolopaties: diagnosis , therapeutics and genetic counselling

Population Genetics

Forensic genetics

Genetic Counseling

Head Lecturer(s)

Isabel Maria Marques Carreira

Assessment Methods

Assessment
Mini Tests: 5.0%
Other: 5.0%
Resolution Problems: 10.0%
Synthesis work: 15.0%
Exam: 65.0%

Bibliography

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