Genetics
Code
11108
Academic unit
NOVA Medical School|Faculdade de Ciências Médicas
Department
GOTH
Credits
4
Teacher in charge
Prof. Doutor José Rueff Tavares
Teaching language
Portuguese
Objectives
General objectives (the 5 C's)
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Curiosity: |
the desire to discover the potential of genetics in medicine (... Wonderful and full of wonder). |
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Comprehension: |
understand and master genetic mechanisms and their role in pathology. |
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Competence: |
knowing how to apply models and methods of genetics to new situations. |
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Capabilities: |
the ability to perform experimental tasks and search for information. |
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Creativity: |
find reasons to criticize the assumptions and learn new explanatory hypotheses of genetic phenomena. |
Prerequisites
Subject matter
Structure and Function of genes and Organization of the Human Genome (6H)
1. Organization of genes. Coding and non-coding regions.
2. Regulation of gene expression. Regulatory mechanisms. Chromatin structure. Epigenetics.
3. Role of mRNA processing.
4. Variation of gene function in embryo-foetogenesis and pathology. Stress Genes.
5. Use and limits of the information collected from sequencing the genome.
6. Using the information gathered from RNAs and polypeptides.
7. Gene duplication and divergence. Paralog Genes. Transposable elements.
From genes to embryon- the beginning of embryology (3H)
1. Meiosis. Gamtogenesis
2. Fertilization and segmentation
3. Balstocyst formation, embryon implantation, extraembryonic tissues formation
4. From gastrulation to neurolation
Genes and Disease (14H)
1. Transmission patterns of autosomal recessive, dominant and X -related situations.
2. Modifying Factors of phenotypic expression. Penetrance, expressivity, abiotrophy, pleiotropy.
3. Clinical presentation of frequent Mendelian situations. From Mutations to phenotype.
4. Inborn errors of metabolism and pharmacogenetic variations.
5. Mitochondrial pathology and mitochondrial pattern of inheritance.
6. Nature of mutations and pre-mutations; their contribution to variability and disease.
7. Concept and clinical significance of imprinting and uniparental disomy.
8. Use of polymorphisms in medicine, gene mapping, linkage disequilibrium and association studies.
9. Multifactorial nature of normal and pathological features. Multifactorial inheritance.
10. Interaction of genes with other genes and environmental factors and role in pathology. Epistasis.
Chromosomes and Chromosomal Pathology (4H)
1. Organization of genes in the chromosomes. Transmission of chromosomes.
2. Causal mechanisms of chromosomal alterations.
3. Numerical and structural chromosomal abnormalities, and mosaics. From cytogenetics to phenotype.
Population Genetics (4H)
1. Principles of population genetics and frequencies in specific populations. Allelic frequencies and genetic drift. Effect of inbreeding and neo-mutations in gene frequency. Medical intervention and gene frequencies.
2. Evolutionary principles to understand human biology and pathology.
Bibliography
Speicher M, Antonarakis SE, Motulsky AG (Eds.) Vogel and Motulsky's Human Genetics. Problems and Approaches Springer Verlag, 4th ed., 2010.
Strachan T, Read A.P. Human Molecular Genetics, 4th edition. Garland Science, 2010.
Feuk L (Ed.) Genomic Structural Variants. Series: Methods in Molecular Biology, Vol. 838. Springer Protocols. Humana Press, 2012
Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson Genetics in Medicine, 7th edition. Saunders, 2007.
Korf BR, Irons MB Human Genetics and Genomics, 4th edition. Wiley- Blackwell, 2013.
Lewis R. Human Genetics: Concepts and Applications. 9th edition. McGraw-Hill Companies Incorporated. 2009.
Ellard S, Turnpenny P. Emery's Elements of Medical Genetics. 14th edition. Churchill Livingstone, 2011.
Passarge E. Color Atlas of Genetics. 3rd edition. Thieme Medical Publishers, 2007.
Regateiro FJ. Manual de Genética Médica. Imprensa da Universidade, Coimbra, 2007.
Emery A, Rimoin D. Principles and Practice of Medical Genetics" - 3 vols. 5th edition. Churchill Livingstone, 2007. (principalmente o 1º volume)
Encyclopedia of the Human Genome 5 vols. John Wiley & Sons, Ltd. 2003.
Bibliographic search
Genetics databases
Genetic Diseases
Diagnosis lab testes
Genetic diseases database (general information)
DNA and Proteins databases
DNA databases
Medicine based on Evidence
Embryology Bibliography:
Alberts, Bruce et al.; Molecular Biology of the Cell; Garland Publ. Inc.; New York.
Carlson, Bruce M.; Human Embryology and Developmental Biology; Mosby.
Larsens;Human Embryology; (2009)
Teaching method
1) Main Lectures: critical exposure of the contents of the course
2) Theorico-practical lectures: analysis and discussion of specific topics with practical interest
3) Practicals: lab tecnics execution, risk calculation practice and scientific publication analysis
Evaluation method
Written Exam (EE) = 80% final classification
No documents / books support allowed. Multiple choice questions on the subjects taught either in lectures or practical classes.
Written Exam is susceptible to Grade Improvement in the 1st or 2nd calls.
1st Call: 2015-06-19, Fri.
2nd Call: 2015-07-10, Fri.
Special Call: 2015-07-23, Thr. (is not allowed Grade Improvement)
Admission to written exam request:
· Attendance to 2/3 classes (practicals and theorico-practical lectures)
· Being approved in continuous assessment (=9,49 = 9; =9,50 = 10; Regulation on Evaluation of the NMS/FCM, Article 4, point 3)
Students are allowed to analyse their written exam in the presence of the responsible teacher. They are requested to do a previous inscription near the Administrative Office and will receive information about the correspondent date and hour scheduled.
Continuous evaluation (AC) = 20% final classification
Where
AC results from the algorithm 0.4*AP + 0.6*S.
AP = Evaluation of practicals is carried out by the professor in charge of the class.
S = classification of the Seminar (S) by a jury of two teachers.
Seminar (S): presentation / discussion (10 minutes / 5 minutes) of one of the proposed topics done by a group of 4-5 students of the same assigned practical class.
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Evaluation criteria (S): |
· Critical analysis of the topic |
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· Synthesis ability |
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· Bibliographic search |
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· Scheduled time respect |
Seminar date and place: correspondent to the assigned practical class
Admission to Seminar request:
· Attendance to 2/3 classes (practicals and theorico-practical lectures)
· Inscription in one of the proposed topics (see Annex) which should communicated to the responsible teacher of the assigned practical class.
· Reception of the summary of the presentation (maximum 250 words) 7 days before the presentation date.
NOTE:
· Continuous evaluation has no 2nd opportunity to Grade Improvement.
· For Students under Special Statute, continuous evaluation (AC) corresponds to the Seminar evaluation.
· The worker-student is entitled to compensation classes or teaching assistance that could be considered essential by the bodies of the educational establishment. As stated on nº 6 do Artigo 155º da Lei n.º 35/2004, de 29-JUL.
· Students who benefit of worker-student statute must contact at the beginning of the year, the Department of Genetics to obtain information on continuous evaluation (AC).
· The classification obtained in the Continuous Evaluation will be considered in the next year for students that have to repeat the course (> 9.49)
Final classification of the Curricular Unit:
Calculated by the algorithm 0.8 * EE + 0.2 * AC > 9.49