Human Genetics and Oncobiology


Teaches the basic concepts of heredity - Mendelian, chromossomal and multifactorial in order to understand the developments of the Medical Genetic field in the post-genomic era. Teaches the molecular and cellular bases of cancer and its development. Therapy in cancer.

General characterization





Responsible teacher

Maria Alexandra Núncio de Carvalho Ramos Fernandes


Weekly - 4

Total - 57

Teaching language



Available soon


Principles of Medical Genetics. 3rd Edition Thomas D. Gelehrter, Francis S. Collins, e David Ginsburg


Human Molecular Genetics 3rd edition Strachan and Read. USA


Modern Genetic Analysis integrating genes and genomes, 2nd Edition Griffiths et al. , W.H. Freeman ,N.Y, USA


Medical Genetics. 3rd Ed., Jorde, L. B., Carey, J. C., Bamshad, M. J. &White,R.L.(2003). Mosby Elsevier, USA.       


Human Genetics – concepts and applications. 6th Ed.. Lewis, R. (2005). Mc GrawHill. USA.


 A Practical Guide to Human Cancer Genetics. Shirley Hodgson, William Foulkes Paperba.. Cambridge University Press 2007


Cancer Biology. Raymond  W Ruddon. Oxford University Press. 2007

Teaching method

Classes will be in presential (otherwise stated).

Powerpoints and bibliographic references will be available 

Evaluation method

Final test - 60% of final grade
Reports (laboratory classes) - 15% of final grade (2 reports)


Seminar (Oral presentation + discussion) - 25% of final grade (The presence in all the classes of seminar presentations and discussions is mandatory to obtain attendance to the discipline)
A grade higher than 9.5 (in each of the above components) is required.
Improvement - Exam  - 100% of the grade (oral)

Subject matter

Organization of the genetic material of man: The structure of human genes. Size of the human genome. Gene families and functional unit of the human genome. The mitochondrial genome. Human karyotype: Cytogenetics: structure and organization of chromosomes, number (ploidy) and structure of chromosomes. Human karyotypes. Topography of chromosomes. Centromeres and telomeres. Types of chromosomes. Chromosomal abnormalities. Types of cell division: mitosis and meiosis. Homologous recombination. Mechanisms of change in the genome - A gene mutation: types of mutations: molecular classification and chemical classification. Mutations and polymorphisms. Classification of mutations: silent, synonymous, missense, nonsense and frameshift. Spontaneous mutations and induced mutations. Functional Classification of mutations: the level of transcripts and protein. Alternative splicing. Genes and pedrigrees. Mendelian patterns of inheritance: Autosomal dominant and recessive inheritance. Hereditary X chromosome-linked recessive and dominant, inheritance linked to chromosome Y. Mitochondrial inheritance. Representation of pedrigrees. Genotype-phenotype correlations. Complexity in Mendelian Heredity. Multifactorial character: Non-Mendelian Inheritance: complex (or multifactorial). Examples of complexity in patterns of Mendelian inheritance. Pleiotropism, complete and incomplete penetrance, variable expressivity, epistasis, phenocopies. Genetic concepts (parental imprinting, penetrance, anticipation, mosaics and chimaeras). Determination of a multifactorial disease or character. Population genetics. Hardy-Weinberg equilibrium, gene frequencies, mutation as the source of genetic variability and disease. Principle and strategies for the identification of genes associated with diseases: Different approaches to identifying genes associated with disease. Linkage studies to define the candidate region. Linkage disequilibrium. Genetic mapping of monogenic and multifactorial. Haplotypes.

Cancer Biology. Normal and Tumor Cell; Metastasis. Angiogenesis in the tumor process. Apoptosis and Cancer. Oncogenes and tumor suppressor genes. Chemical and physical agents and biological agents as carcinogens. Diagnosis and therapy in cancer. The DNA repair. Cellular immortality. Technology of RNA interference in cancer.