Human Genetics

Objectives of the course (preferably expressed in terms of learning outcomes and competences: The Human Genetics course deals with the genetic aspects of human inheritance. The course consists of lecture, group discussions and laboratory sessions that aim at describing how genes or gene networks interact with each other or the environment as well as a number of genetic diseases that may result from inherited gene defects or genome instability. The course also covers a variety of current techniques that are used in both clinical and research application in the field of Human Genetics.

Course contents:  

1. The structure of the genome, its organization, function and control.
2. Organization of genes into chromosomes, how genes replicate in mitosis and meiosis and their transmission to progeny.
3. DNA damage and mutations and how both may contribute to human variability and/or disease.
4. Gametogenesis in females and males and their clinical implications.
5. Sex determination, sexual development, dosage compensation in disease.
6. Principles of cytogenetic diagnostic methodologies and their use in the detection of chromosome aberrations - structural and numerical.
7. Numeric, structural and mosaic chromosome anomalies.
8. Genetic imprinting and uni-parental disomy.
9. The patterns of inheritance of autosomal dominant, autosomal recessive, X linked recessive and X linked dominant.
10. The structure and organization of mitochondrial DNA, the basis of mitochondrial disease and their patterns of inheritance.
11. The basis of advanced methodologies in molecular biology and their applications in diagnosis.
12. Principles of multifactorial inheritance.
13. Cancer genetics and the predisposition to malignancies.
14. Teratogenesis and mutagenesis, the effects of human teratogens and mutagens.
15. the blood groups and HLA. Their basis of inheritance and their role in diagnosis and determination of paternity.
16. Prenatal diagnosis, advantages and limitations.
17. Mouse genetics, modeling and human disease