Clinical-Laboratorial Molecular Pathology

Base Knowledge

Cellular and Molecular Biology, Genetics, Biochemistry, Clinical-Laboratorial Molecular Diagnosis

 

Teaching Methodologies

Expository and appealing methodology for direct intervention by students using audiovisual media. In addition, there is also the autonomous study with research on some of the described contents.

Learning Results

Clinical-Laboratorial Molecular Pathology aims to study the molecular basis of the disease, in conjunction with the support of laboratory tools in the diagnosis, prognosis and monitoring of the pathology.

The student must:

Characterize and evaluate the main pathologies at the molecular level.

Identify the notions of molecular biology and molecular genetics applied to inherited diseases.

Identify the possible risk factors as a positive and negative modulating effect.

Recognize the multiple methodologies and select the most appropriate for each pathology.

Correlate clinical severity with various types of mutations and establish a genotype-phenotype correlation.

Plan the collection and handling of biological samples according to the study objectives.

Select, plan and evaluate molecular methods and techniques to be applied according to diagnosis, prognosis, therapeutic indication and investigation.

Program

– Pathology and molecular genetics

– Genotoxicity

– Molecular mechanisms of cell regulation

– Diagnosis, prognosis and therapeutic indication in human pathology

– Liquid biopsy and circulating tumor DNA

Evaluation of the molecular profile and biomarkers in the diagnosis and monitoring of the molecular changes and pathologies mentioned below:

– Disorders in lipid and carbohydrate metabolism

– Autoimmune pathology

– Nerve pathology: Alzheimer’s disease, Parkinson’s disease, epilepsy

– Oncological pathology

– Anemias

– Hereditary hemochromatosis

– Hemoglobinopathies: beta thalassemia, hemoglobin C, hemoglobin S

– Thrombophilia: annexin A5, Apo E, Factor V Leiden, MTHFR, prothrombin

– Warfarin sensitivity/resistance

Curricular Unit Teachers

Internship(s)

NAO

Bibliography

Primary bibliography:

– José Manuel Gonzalez de Baitrago JMMJ. Patologia Molecular

– Weinberg RA. The biology of cancer. New York: Garland Science, 2007. (Cota: D5.0 WEI e D5.0 WEI8995)

– Biologia Molecular e Celular MCGRAW-HILL, 1ª ed

– Medical Genetics, Lynn B Jorde, Carey, Bamshad- 2ª ed

– Roitt, I. Essential Immunology (11ª Ed.). Nova Iorque: Blackwell Scientific Publications, 2006.

Secondary bibliography:

– Clark D, Pazdernik N, McGehee M. Molecular Biology. 3ª ed. 2019. Academic Press. United Kingdom.

– Pecorino L. Molecular Biology of Cancer: Mechanisms, Targets and Therapeutics. 3ª ed

– Cooper GM, Hausman RE. The Cell: A Molecular Approach (5ª ed.). Sunderland: Sinauer, 2009.

– Kumar V, Abbas A K, Fausto N. Robbins and Cotran Pathologic Basis of Disease (6ª ed.). Philadelphia: Elsevier Saunders, 1997.