Genetics

Recommended Prerequisites

Biochemistry, Molecular Biology, English.

Teaching Methods

- Theoretical classes: lectures

- Theoretical and practical classes: to discuss proposed topics related to Oral medicine and Genetics.

- Theoretical and practical classes: to discuss and solve problems of genetic counselling

- Self learning - homework: training exercises

- Self-learning- two works: 1) identification and classification of familial mutation using public genetic data bases and 2) analysis of scientific papers (oriented by a questionnaire)

- Oral presentations of clinical cases. 

Learning Outcomes

To be able to understand and discuss scientific papers on oral genetics

To be alble to perform self-learning and keep up-to-date in the genetic field

To be able to wok in team and perform peer presentation and discussion

To be able to use some of the most common genetic public  databases

To explain the molecular mechanisms of normall variability and disease

To know the specificities of genetic counselling of chromosomal, monogenic and multifactorial diseases and to evaluate the risk of transmission for these situations

 To describe the phenotype and explain the genetic mechanism of the most frequent genetic diseases

To describe the benefits and difficluties of the clinical application of pharmacogenomics

To know which genetic diseases may be prevented and how

To identify the main problems that the dentist has to deal with when treating a patient with a genetic disease

To identify ethical problems of genetic counseling

To act according to legislation  on genetic information.

Work Placement(s)

No

Syllabus

The human genome. Regulation of gene expression including epigenetic mechanisms, microRNAs and long ncRNAs. DNA pathologic variations, DNA repair mechanisms; molecular pathology and phenotype-genotype correlation. DNA polymorphisms and its applications. Molecular biology approaches – assays, applications, limitations. Mendelian and non- Mendelian (mitochondrial, genomic imprinting, multifactorial) inheritance– examples, molecular mechanisms, risk calculation, and genetic counselling. Inbreeding and population genetics. Pharmacogenomics.  Inborn errors of metabolism. Hereditary diseases with oral and dental manifestations. Abnormalities of chromosome number and structure: classification, nomenclature, clinical manifestations, diagnosis  and genetic counseling. Genetics of cancer (molecular mechanisms, sporadic and familial cancer, genetics approaches in prevention, diagnosis, prognosis and treatment, genetic counselling of familial cancer.

Head Lecturer(s)

Henriqueta Alexandra Mendes Breda Lobo Coimbra Silva

Assessment Methods

Assessment
Homework (2%) and oral presentations (8%): 10.0%
Mini Tests: 40.0%
Exam: 50.0%

Bibliography

1. Books:

- Human Molecular Genetics 4; Tom Strachen&Andrew P. Read;

-Thompson&Thompson, Genetics in Medicine, 8ª Edição

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

- Identificação de Factores de Risco e Prevenção das Anomalias Congénitas; Jorge M. Saraiva; Maternidade Bissaya Barreto, 1998

2. Slides presentation of the main themes

3. Exercises for training and to solve in the practical classes

4. Scientific papers: to be announced in time (change every year)