Molecular Cytogenetics

Year
1
Academic year
2023-2024
Code
02038015
Subject Area
Laboratorial Genetics
Language of Instruction
Portuguese
Other Languages of Instruction
English
Mode of Delivery
Face-to-face
Duration
SEMESTRIAL
ECTS Credits
8.0
Type
Compulsory
Level
2nd Cycle Studies - Mestrado

Recommended Prerequisites

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

Teaching Methods

For theoretical and theoretical-practical classes, presentations of powerpoint, handouts / articles / or other material that the Lecturers understand to be the most appropriate, with theoretical contents related to the objectives of the UC. Joint sessions will be organized with discussion of clinical cases, among Clinical Specialists from different areas and Laboratory Specialists.

The test will be carried out according to the specific pedagogical objectives of the UC and the number of questions will be representative of the importance of the subject to be evaluated and the number of hours taught in each subject.

Learning Outcomes

Discuss the role of Molecular Genetics and Genomics as a diagnostic tool;

Acquire solid knowledge of the different techniques used. Emphasize for the different techniques, besides the details of laboratory execution, its advantages, the objectives, its limitations and its applications for the diagnosis;

To relate the laboratory findings with the Reference Genome;

To know and apply the international nomenclature for the description of results in molecular genetics and genomics;

Know and use different types of databases and bioinformatics tools for interpretation of findings;

Analyze the techniques associated with Pharmacogenetic studies and discuss their clinical importance in modern medicine.

Correlate the Genotype to the Phenotype in several types of pathologies, namely oncological, dermatological, ophthalmological, neurological, cardiological, among others;

Analyze the most effective diagnostic strategy in different clinical settings.

Work Placement(s)

No

Syllabus

Technologies of Molecular Genetics and Genomics - principles, applications, interpretation, advantages and limitations: Extraction and quantification of nucleic acids, including quality assessment;  Molecular genetics techniques; Microarray technologies for DNA analysis (CGH array and SNPs) and expression arrays.

Conventional Sequencing and Next Generation Sequencing (NGS) - types of chemistry and applications;

Functional Genomics, Epigenomics, Transcriptomics and Proteomics.

Genetic Databases: Importance and applications.

International projects, ex. 1000 genomes, Encode, Microbiome

Pharmacogenetics and Pharmacogenomics - impact on pharmacotherapeutics. Application of genomics to the discovery and development of new drugs.

Genotype / phenotype correlation: interpretation of results and design of strategies. Clinical-laboratory discussion on cardiac, neurological, developmental, skeletal, ophthalmological, dermatological, oncological, immunological diseases.

Head Lecturer(s)

Maria Joana Lima Barbosa Melo

Assessment Methods

Assessment
Students will have to solve and present problem cases and / or related topics, it will be assessed the content, communication skills and teamwork : 20.0%
The evaluation consists of a multiple-choice questions and/or others question types: 80.0%

Bibliography

Molecular Biology of the Gene, 7th Edition, James D Watson et al., ISBN 9780321762436
Medical and Health Genomics, 1st Edition, 2016, Dhavendra Kumar and Stylianos Antonarakis, ISBN: 9780124201965
Artigos científicos originais e de revisão, atuais, no âmbito dos diferentes temas abordados na UC.