Genomics and genetic diseases

To give an overview of the illnesses with a genetic component. The student will learn know how to tackle the analysis of these illnesses in the clinical practice, and the fundamentals of genetic counselling. An important part of the subject will devoted to review the current knowledge of the structure and organisation of the human genome and its implications with health, the genetic basis of mendelian diseases and the analysis of the genetic component of the complex phenotypes, as well as an in depth review of the cytogenetics methods to detect changes in the number and structure of chromosomes, such duplication, translocations, deletions, insertions and inversions.

1. The Human Genome: structure, sources of variation and disease.
2. The genetic architecture of human disease.
3. Chromosomal alterations.
4. Hereditary molecular pathology.
5. Research of genes involved in mendelian diseases.
6. Genetics of complex diseases.
7. Genes and cancer.
8. Molecular diagnostics.
9. Genetic counseling.
10. Treatment of genetic disease and models of disease.

1. Medical genetics. In Internal Medicine. Farreras. 16ª edition.
2. Emery and Rimoin's Principles and Practice of Medical Genetics. 16 edition: Continually Updated On-line Reference, 3-Volume Set (Principles and Practice of Medical Genetics (Emery & Rimoin)) (Hardcover).

1. To understand the molecular bases of the inheritance of disease.
2. To know the utility and applications of the genomic medicine.
3. To know the diagnostic tools and their limitations.
4. To understand of the importance and bases of the genetic counseling.
5. To know the strategies in the study of genetic disease.

It will combine theoretical lessons, seminars for discussion of selected topics and specific tasks to be completed by the students. Sessions wiil be presential or online according to "Plan de continxencia para o desenvolvemento da docencia no curso 2021-22"

80% of the punctuation will be based upon the evaluation of the active work of the student in the classrooms, seminars and activities proposed by the professors, and the remaining 20% on an objective exam.

Classroom/online: 18 h theoretical and 24 h interactive seminars.
Student work: 80 h.

Traballo diario, participación activa nas actividades.