Genetics
Objectives
Curiosity: the desire to discover the potential of genetics in medicine and nutritional sciences (... wonderful and full of wonder).
Comprehension: understand and master genetic mechanisms and their role in pathology.
Competence: knowing how to apply models and methods of genetics to new situations.
Capabilities: the ability to perform experimental tasks and search for information.
Creativity: find grounds to criticize the assumptions and learn how to found new explanatory hypotheses of genetic phenomena.
General characterization
Code
41009
Credits
Available soon
Responsible teacher
Joaquim Fernando Tomaz Rodrigues Moita Calado,SOFIA ALEXANDRA FRIAS MENDES DA GRACA POETA,ANA FILIPA DA SILVA ALVES,ANA CATARINA DOMINGUES PEREIRA SANTOS,SUSANA ISABEL MATEUS SANTOS
Hours
Weekly - Available soon
Total - 0
Teaching language
PT
Prerequisites
Not applicable
Bibliography
Not applicable
Teaching method
The theoretical, practical and thematic presentations in charge of
teachers foster the acquisition of updated information on the topics
studied. Also students¿ presentations, in groups or individually, require
reflection, critique, and help to create the awareness that we learn
throughout life (LLL = long life learning).
The study of real situations and conditions of medical genetics
promotes the knowledge of good practices, the recognition of the
importance of theory to intervene in practice and the conclusion that
professional development is a continuous process of learning with a
strong contribution of personal reflection. Group works, individual work,
the socialization of work, mature knowledge and personal
development.
The forms of assessment are appropriate to the objectives of the course
and methodology.
The achievement of the learning objectives is also met through the
analysis and discussion of case studies.
The use of descriptive and expository methodologies is planned when
the objective is to provide theoretical and conceptual bases and to give
the context and perspective of the subjects.
Still having as the basis the Dublin Descriptors for the 1st cycle, what is
aimed is that the students: "can apply their knowledge and
understanding, and problem solving abilities in new or unfamiliar
environments within broader (or multidisciplinary) contexts related to
their field of study". Or still, according to the Dublin
Descriptors, what is aimed is that students may: "have the ability to
integrate knowledge and handle complexity, and formulate judgments
with incomplete or limited information, but that include reflecting on
social and ethical responsibilities", and also being able to: "have the
ability to gather and interpret relevant data (usually within their field of
study) to inform judgements that include reflection on relevant social,
scientific or ethical issues"
Evaluation method
Evaluation: multiple choice exam worth 100% of the final rating.
Subject matter
Structure and Function of genes and Organization of the Human Genome:
Genome Organization. Chromatin structure. The karyotype.
Regulation of gene expression. Epigenetics.
Transposable elements and repetitive sequences.
Genes and Disease
Transmission patterns of autosomal recessive, dominant and X -related situations. Clinical presentation and mechanisms.Modifying factors of expression:
- Metabolic conditions;
- Rasopathies and trinucleotide repeated diseases;
- Cancer genetics;
- Organ diseases.
Mutations and pre-mutations. Trinucleotide expansion diseases.
Multifactorial inheritance. Interaction of genes and with environmental factors and role in pathology.
Chromosomes and Chromosomal Pathology
Mechanisms of chromosomal alterations.
Numerical and structural chromosomal abnormalities, and mosaics. From cytogenetics to the clinical presentation.
Population Genetics
Gene frequencies. Allelic frequencies and genetic drift. Effect of inbreeding and neo-mutations in frequency. Evolutionary principles to understand human biology and pathology.