Medical Genetics

Code:

CB4002

Acronym:

CB4002

Keywords
Classification	Keyword
OFICIAL	Biological Sciences

Instance: 2021/2022 - 2S

Active?	Yes
Responsible unit:	Microscopy
Course/CS Responsible:	Master in Biochemistry

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
M:BQ	18	Plano de Estudos do MBIOQ_2013-2014	1	-	6	56	162

Teaching language

Suitable for English-speaking students

Objectives

Concepts: genetic disease as an extreme of human variability; types of hereditary disease; genetic risks; diagnostic techniques for hereditary diseases; genetics of common diseases; genetic factor in cancer; screening, prevention and treatment of genetic diseases; the ethical, legal and social issues (ELSI) of genetic diseases.

Skills: to collect, register and interpret a family history; to determine the hereditary nature of a disease; to evaluate genetic risks; to recognize the psychosocial impact of a hereditary disease; to recognize chromosomal syndromes and the most frequent hereditary diseases; to know the indications for genetic testing, to interpret results and to know its limitations.

Competences: to recognize what is needed to perform the correct diagnosis of genetic diseases; to know the various situations and contexts when physicians refer patients for a correct genetic diagnosis; to khow to main technologies used in genetics research and for genetic diagnosis of patients, their main indications and limitations.

Learning outcomes and competences

The theoretical syllabus includes all the concepts proposed in the objectives, in summary: to acquire "genetic thinking" about medical conditions.To recognize the role of genes, environment and other factors in health and illness. To understand genetic regulation in development and metabolism. To comprehend variability and individual susceptibility. To have notions about prevention and treatment of genetic diseases. To think about ethic problems. The practical sessions, with exercises, will favour the acquisition of the attitudes proposed in the objectives: to know how to collect, register and interpret correctly a family history; to evaluate risks; to recognize the most frequent chromosome syndromes and hereditary diseases; to know the indications and limitations for cytogenetic, biochemical or molecular testing and how to interpret its results. At final, students will get the competences described in the objectives.

Working method

Presencial

Pre-requirements (prior knowledge) and co-requirements (common knowledge)

Population genetics

Har­dy-Weinberg law. Estimation of gene frequencies and tets for H&W equilibrium. Mutation, selection and evolution. Panmixy and assortative mating. Con­cept of genetic lethal. Lethal equivalent and genetic load. Genetic fitness and selection coefficient. Heterozygous advantage. Compensatory dominance, genetic complementation and meiotic drift. Balanced, transitory and neutral polymorphisms. Genetic flow. Migration.

Population isolates and stratification. Genetic drift and founder effect. Consanguinity. Endogamy coefficient.

Men­delism. Locus(i) and size variation with ploidy. Alleles and poliallellism. Dominance and recessiveness. Homozygosity, heterozygosity and hemi­zygo­sity. Dou­ble hete­ro­zygo­te and compound heterozygote. Genetic linkage and recombination.

Molecular genetics

DNA and bacterial transformation. Semi-conservative replication of DNA. Com­­po­­si­tion and structure of DNA. Genetic code and protein synthesis. Transcription of RNA and RNA trans­criptase. Endonucleases and li­ga­ses. Vectors. Plas­mids. Cos­mids. Molecular clone. Reverse trans­crip­tase.Structure of eukaryote genes, introns and exons. Structural genes. Pseu­dogenes. Mytho­chon­drial DNA. The Jacob and Monod model. Regulator ge­nes and ope­­ra­tors. Regulation me­cha­nis­ms of gene expression on trans­­cri­ption and translation. Post-translational modification of pro­teins.Restriction enzymes. DNA polymorphisms. RFLPs, VNTRs, mycrosa­telytes and SNPs. Southern blotting. Genetic probes. Amplifica­tion of DNA by PCR. DNA sequencing.

Histology and embryology

Normal development processes, growth, differentiation and morphogenetic movements. Fecundation, zygote and cleavage. Blastome­res, morula and blastocyst. Endoderm, ec­to­der­m and meso­derm. De­rivatives of the primitive embryonary tissues.The embryoblast and orga­nogenesis. Embryological calendar. De­velopment of the central nervous system. Wolf and Muller systems. Foetal mem­bra­nes.

Cell biology

Structure of chromatin. DNA and histo­nes. Nu­cleosomes.Autosomes and heterosomes. Control of cell cycle. division. Cell division and differentiation. Mitosis and meiosis. Quias­­­ms, crossing over and recombination. Spermatogenesis and oogenesis.

Immunology

Erythrocyte and plasmatic blood groups. ABO, Rh, MNS, se­cre­tor and Lewis systems. Haptoglobins.

Genetics of the immune system and its de­fi­ciencies. Major his­to­com­patibility complex (MHC). HLA system and linkage disequilibrium, association of chronic diseases and sus­ceptibility genes.Diversity of immunoglobulins. Immunoglobulin genes superfamily.

Program

Theoretical: Concepts of normal and disease. From the gene to the phenotype. Types of heredity. Stucture and functions of chromatin and chromosomes. Numerical and structural chromosomal alterations. Chromosome syndromes. Sexual determination and differentiation. Disorders of sexual development. Chromosome instability. Cancer cytogenetics. Genetic epidemiology. Classical mendelian genetics and deviations. Dinamic mutations. Epigenetics.  Multifactorial inheritance and common disorders of adult life.  Prevention and treatment of genetic diseases. Genetic counselling. Ethics in medical genetics.

Practical:Chromosome methodology. The karyotype and the rules for its nomenclature. Meiotic consequences of balanced chromosome alterations. Family history methodology. Modes of inheritance. Risk calculations for mendelian disorderes. Linkage analysis, physical and genetic mapping. Molecular diagnosis of genetic diseases. 

Mandatory literature

Lynn B. Jorde, John C. Carey e Michael J. Bamshad; Medical Genetics, 6th edition, Elsevier, 2020. ISBN: 9780323596534 / 9780323596541

Complementary Bibliography

Nussbaum Robert L.; Thompson & thompson genetics in medicine. ISBN: 978-1-4160-3080-5 (Genetics in Medicine)
Peter D Turnpenny and Sian Ellard; Emery's Elements of Medical Genetics, 15th Edition, Elsevier, 2017. ISBN: 9780702066856

Teaching methods and learning activities

The assessment of knowledge and skills will be achieved by a final examination and an individual essay.
The final examination will include questions about all the theorical concepts and methodologiesfor genetic analysis, that will be presented in the form of american test. It will also include concrete practical exercises, relative to situations that can happen in genetic counseling consultation, and that will be presented in a form similar to that presented and discussed in the practical classes.
The essay should be based on a subject related to a genetic disorder of choice.

The final examination and the essay will be evaluated with 0 through 20.  

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Designation	Weight (%)
Exame	75,00
Trabalho prático ou de projeto	25,00
Total:	100,00

Amount of time allocated to each course unit

Designation	Time (hours)
Frequência das aulas	56,00
Total:	56,00

Eligibility for exams

Minimum frequency of 75% of practical classes.

Calculation formula of final grade

Final mark: (final examination valued 0 through 20 marks x 0.75) + (essay and presentation valued 0 through 20 marks x 0.25)

Examinations or Special Assignments

Individual essay about a genetic disease, its presentationl and discussion: valued 0-20 marks.

Internship work/project

No

Special assessment (TE, DA, ...)

According to general rules

Classification improvement

According to general rules

Observations

-