Genetics

Knowledge of molecular and cellular biology

The theorical classes are aimed at the detailed presentation of the program contents, and students are invited to particate. These classes are interspersed with theorical-practical (TP) classes with resolution of genetic exercises, most of them related with clinical cases and the applicability of genetics concepts and clinical practice.

Two of the theoretical classes will be taught jointly with two experts in the field.

The student must acquire knowledge, skills and competences that allow them to:

–        Understand the role of Genetics in the diagnosis, prognosis and follow-up of patients with a genetic disease

–        Learn and apply different molecular methodologies in order to be able to identify the genetic cause underlying different diseases;

–        Understand the clinical implications as well as the applicability of the results of genetic tests, including the interpretation of variant classification

–        Apply the Portuguese Law model regarding the genetic counselling

–        Understand the Pharmacogenetics principles and realize their implications and applicability related to Personalized Medicine.

–  Learn what is Gene therapy and its implication on Personalized Medicine

–        Develop students’ reasoning and critical thinking.

– The chronology of Genetics

– DNA, RNA and protein: synthesis, trancription and transduction

– Genes and chromosomes. The genetic code

– Mendelian and non-Mendelian heredity mechanisms. Dominant, Recessive autosomal inheritance and X-linked inheritance

– Monogenic, chromosomal and multifactorial diseases

– Antecipation, mosaicism, uniparental disomy, genomic imprinting and mithocondrial diseases;

– Diagnosis and Preditive genetic tests

– Laboratorial tests – importance, applicability and interpretation

– Genetic counselling procedures, principles and clinical practice

– Pharmacogenetics – principles and clinical practice. Personalized Medicine

– Gene therapy

NAO

Primary bibliography

  – Thompson & Thompson Genetics in Medicine (Thompson and Thompson Genetics in Medicine) 8th Edition

– Regateiro F.J. Manual de Genética Médica. Imprensa da Universidade, Coimbra, 2003.

Secundary bibliography

– Scientific articles provided during each classe

– powerpoints provided during each classe