Genetics

General characterization

Prerequisites

 

Bibliography

• Speicher M, Antonarakis SE, Motulsky AG (Eds.) “Vogel and Motulsky's Human Genetics. Problems and Approaches” Springer Verlag, 4th ed., 2010.
• Strachan T, Goodship J., Chinnery P. “Genetics and Genomics in Medicine”. Garland Science, 2015.
• Strachan T, Read A.P. “Human Molecular Genetics”, 4th edition. Garland Science, 2010.
• "Preventive and Predictive Genetics: Towards Personalised Medicine"  Editors: Grech, Godfrey, Grossman, Iris (Eds.); Springer; Series: Advances in Predictive, Preventive and Personalised Medicine, Vol. 9, 2015
• Nussbaum RL, McInnes RR, Willard HF. “Thompson & Thompson Genetics in Medicine”, 8th edition. Saunders, 2016Lewis R. “Human Genetics: Concepts and Applications”.  9th edition. McGraw-Hill Companies Incorporated. 2009.
• Lewis R. “Human Genetics: Concepts and Applications”.  12th edition. McGraw-Hill Education 2018
• 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.

 

Pesquisa Bibliográfica Geral.

MEDLINE
IARC
National Library of Medicine

Bases de Dados de Genética:
 
Base de dados de mutações em p53
BioGPS
National Center for Biotechnology Information
Tools of Genetics and Molecular Biology
OMIM - Online Mendelian Inheritance in Man
Human Genome Resources
Martindale's Health Science Guide
Généthon
Information for Genetic Professionals
Clinical Genetics Homepage
Cytogenetics Gallery

Doenças Genéticas
GeneClinics
Ensaios Laboratoriais de diagnóstico genético
GeneTests

Base de Dados de doenças genéticas para o grande público
NORD

Base de Dados de DNA e Proteínas
Genbank

Base de Dados de DNA
EMBL

Medicina baseada na Evidência
Cochrane Collaboration

Teaching method

Due to the COVID-19 Pandemic, the theoretical and theoretical-thematic classes will be in e-learning format with classes recorded in ppt with voice, and the practical classes will be taught with the breakdown of classes for the school year 2020-21, according to the map submitted to the room management of NMS, thus adopting a Blended Learning methodology.

 

1) Main Lectures: critical exposure of the contents of the course

2) Thematical Lectures: analysis and discussion of specific topics with practical interest

3) Practicals: lab techniques, risk calculation exercises and analysis of scientific publications

 

Practicals:           Mondays (12.30h to 18.30h), Tuesdays (12.30h to 16.30h) and Wednesdays (8.30h to 14.30h), Labs 3 and 4 - Floor 0, Main Building of Faculdade de Ciências Médicas, Campo Mártires da Pátria, 130, 1169-056 Lisboa

Evaluation method

 Written Exam Medquizz (EE) =9,50 = 10 = 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
Students that failed Genetics last year, with valid Continuous Evaluation (AC) in 2019-2020 are this year exempted from repeating AC.

Admission to written exam request:
• Evaluation of practicals and/or Seminar =9.50 = 10
Continuous evaluation (AC) = 20% final classification
Where 
AC results from the algorithm 0.6*AP + 0.4*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 m / 5 m) of one of the proposed topics done by a group of 3-4 students of the same assigned practical class.

Evaluation criteria (S):
• Critical analysis of the topic and innovation
• Synthesis ability
• Bibliographic search
• Scheduled time
Admission to Seminar request:
• Attendance to 2/3 classes (practical’s lectures)
• Continuous evaluation has no 2nd opportunity to Grade Improvement.
• For Students under Special Statute, continuous evaluation (AC) corresponds to the Seminar evaluation.

Final classification of Genetics:  0.8 * EE + 0.2 * AC  (EE and AC =9,50 = 10 )

Subject matter

Structure and Function of genes and Organization of the Human Genome (6H)
• Organization of genes. Chromatin structure. Coding and non-coding regions.
• Regulation of gene expression. . Epigenetics.
• Orthologous and paralogous. Transposable elements.
Genes and Disease (14H)
• Transmission patterns of autosomal recessive, dominant and X -related situations. Modifying factors of expression.
• Clinical presentation and mechanisms of most frequent mendelian conditions: familial hypercholesterolemia; hypertrophic cardiomyopathy; polycystic kidney disease; cystic fibrosis.
• Mutations and pre-mutations; trinucleotide expansion diseases. Rasophathies
• Multifactorial inheritance.
• Cancer genetics: breast cancer. APC and HNPCC. Familial vs. sporadic cancers.
• Interaction of genes with other genes and environmental factors and role in pathology. Epistasis.

Chromosomes and Chromosomal Pathology (4H)
• Mechanisms of chromosomal alterations.
• Numerical and structural chromosomal abnormalities, and mosaics. From cytogenetics to the clinical presentation. Aneuplodies, Chromosome deletion syndromes.
Population Genetics (4H)
• Gene frequencies in populations. Allelic frequencies and genetic drift. Effect of inbreeding and neo-mutations in frequency. Medical intervention and gene frequencies. Evolutionary principles to understand human biology and pathology.

Programs

Programs where the course is taught: