Principles of Medical Genetics

Recommended Prerequisites

Knowledge of biology, biochemistry in the pre graduate cycle of courses in the scope of Biomedical Sciences.

Teaching Methods

For the lectures it will be used powerpoint presentations, handouts/articles/or other material that teachers understand to be best suited.

Interactive clinical cases will be, as much as possible, the basis for learning.

The test will be carried out in accordance with specific pedagogical objectives of the module and the number of questions will be representative of the importance of the issue to be evaluated.

Learning Outcomes

To understand the importance of the accurate description of the personal and family history for the analysis and interpretation of genetic tests. To learn basic concepts of dysmorphology and congenital anomalies. To understand and give examples of the different types of genetic alterations and respective mechanisms of disease, in the contexts of Mendelian and non Mendelian disorders. To develop and practice the establishment of genotype-phenotype correlations, using multiple examples of the clinical practice. To interact with clinicians and get to know their perspective on the interpretation of each type of genetic test and the importance of the quality of the reports.

Work Placement(s)

No

Syllabus

1 - Introduction.

2 - Family history and pedigree analysis.

3 - Dysmorphology and congenital anomalies;

4 - Clinical terminology, Systems of nomenclature.

5 - Genotype-phenotype correlations and mechanism of disease in genetic disorders. 

      5.1 Chromosomal disorders

      5.2 Monogenic Disorders: autosomal dominant disorders. 

      5.3 Monogenic Disorders: autosomal recessive and X-linked disorders

      5.4 Triplet repeat expansion disorders

      5.5 Mosaic disorders

      5.6 Non Mendelian disorders - Imprinting and mitochondrial disorders

      5.7 Multifactorial/polygenic disorders

6. Types of genetic tests: diagnostic (postnatal, prenatal and preimplantation); presymptomatic; heterozygosity and balanced chromosomal rearrangement; susceptibility; pharmacogenetics. Genetic testing in children. Screening tests for genetic disorders.

7. The perspective of the clinician in the interpretation of laboratory clinical genetics.

Head Lecturer(s)

Sérgio Abílio Teixeira Bernardo de Sousa

Assessment Methods

Assessment
Clinical cases : 40.0%
The evaluation consists of a multiple-choice questions : 60.0%

Bibliography

Selected Genereviews.

Oxford Desk Reference: Clinical Genetics and Genomics. 2017

Pratical genetic counselling for the laboratory. 2017

American College of Medical Genetica Standrads and Guidelines

Lei 12/2005