Molecular Genetics

Code:

MI121

Acronym:

GMOL

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2022/2023 - 1S

Active?	Yes
Responsible unit:	Departamento de Biomedicina
Course/CS Responsible:	Integrated Master in Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMED	350	Plano Oficial 2021	1	-	7	66	189

Teaching language

Portuguese

Objectives

The main objective of the UC “Molecular Genetics ” is to transmit student the more recent knowledge about the dynamics of the human genome and the mechanisms that allow molecular information transmission from DNA to protein.  Indeed, the syllabus is extensively dedicated to molecular mechanisms of maintenance of integrity of the genome, methodology employed for study, diagnostic and gene-based therapies. The clinical relevance of of molecular genetics is focused along the course. This UC also includes a strong laboratory component that elucidates how to get the knowledge, and integrative scientific papers discussion sessions. The teaching staff includes professors that investigate the basic mechanisms of molecular biology and specialists in human genetics, too.

Learning outcomes and competences

After approval, the students should demonstrate the knowledge necessary to:

 

- describe the structure and function of the molecule of DNA

- discuss the mechanisms of storage and decoding of the genetic information (central dogma of  Molecular Biology)

- explain the human genome dynamics  and the mechanisms of DNA repair
- recognize the contribution of genetics instability in the onset of diseases

- discriminate the mechanisms of regulation of gene expression

-discriminate  the epigenetic mechanisms of regulation of gene expression

- identify  the methodology currently employed for the study of the human genome and the sequences of DNA
- employ bioinformatic tools in the analysis of DNA and protein sequences
- identify the medical aplications of the methods of DNA analysis

- describe the molecular mechanisms that take place in cell nucleus

- identify the experimental models for gene expression manipulation and the principles and applications of gene therapy
- recognize the different molecular therapies, including gene therapies and their current aplication
-identify the concept of Genomic Medicine

- identify the techniques of molecular biology necessary to the resolution of biological problems

- autonomously execute techniques of  molecular biology

- presenting and critically discussing scientific publication on the scope of the UC

 

Working method

Presencial

Program

Theoretical contents:
Introduction to Genetics. Historical perspective. 

DNA: structure

Analysis and localization of nucleic acids

Human genome

The substrate of genetic information: technologies

DNA: replication

Diagnostic techniques in molecular genetics

Recombinant DNA techniques

Analysis of DNA sequences variation and sequencing tecnhiques

Bioinformatics

DNA: repair

DNA: recombination and transposition

Genomic instability and associated diseases 

Diagnostic techniques in molecular genetics: MLPA and microarrays

Transcription: messenger RNA

Functional protein domains 

Transcription: ribossomal RNA, transfer RNA and miRNAs

Cell nucleus.Transport and nucleus-cytoplasm interaction

Protein synthesis

Control of gene expression

Epigenetic mechanisms of control of gene expression

Epigenome analysis 

Genetic engineering . Experimental models for manipulation of genetic expression. RNAi

Aplication of the genetic analysis techniques to patology diagnosis

Molecular therapies 

Gene therapy

Genomic Medicine

 

Practical contents:

Extraction and quantification of DNA

PCR amplification of DNA electrophoresis analysis

Cell nucleus

Bacteria transformation with recombinant DNA

DNA plasmid digestion with restriction enzymes. Analysis of the  restriction map

DNA sequencing

Bioinformatics  (analysis of genetic mutation )

Advanced techonology of DNA analysis - MLPA

 

Mandatory literature

Strachan, Tom, Read, Andrew ; Human Molecular Genetics 4 , 4th ed. , New York and London, Garland Science, 2010
Ricki,Lewis; Human Genetics, Concepts and Applications 10th Ed. , McGraw-Hill, 2012
Lodish, Berk, Kaiser, Krieger, Scott, Bretscher, Ploegh, Matsudaira; Molecular Cell Biology 9th edition, Freeman and company, New York, 2021
Alberts, Heald, Johnson, Morgan, Raff, Roberts and Walter; Molecular Biology of the Cell 7th, Garland Publishing, Inc. New York,, 2022

Complementary Bibliography

Cooper; The Cell. A Molecular approach, 7th ed. , AMS Press, U.S.A., 2016

Teaching methods and learning activities

The lesson plan comprises lectures, lasting one hour each, and practical classes, 2 or 2,5 hours each. These hands-on practical classes will always be supervised by a teacher in 4 groups of 3-4 students in a molecular biology laboratory. Additionally, practical microscopy lessons with a microscope for each student will also integrate the course.

Theoretical-practical sessions for presenting and discuss scientific papers will be mandatory, and each student should prepare an oral presentation.Blended-learning will be used in this UC, considering that  for each content, a  summary will be made available  in  the internet page of the da UC, and for theoretical sessions the complete file of the presentation  and scientific papers will be also offered. This internet page allows the interaction among students and teachers through a forum of questions relative to the contents of the UC.

 

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Designation	Weight (%)
Prova oral	15,00
Teste	75,00
Trabalho laboratorial	10,00
Total:	100,00

Amount of time allocated to each course unit

Designation	Time (hours)
Apresentação/discussão de um trabalho científico	22,00
Elaboração de relatório/dissertação/tese	12,00
Estudo autónomo	89,00
Frequência das aulas	66,00
Total:	189,00

Eligibility for exams

Presence at 7 of 10 practical classes

Calculation formula of final grade

Final assessment will be constituted by a final test (T) and parcel assessment, corresponding to 2 reports from practical learning (Rl) and presentation of a scientific paper (Art), quoted  75% (E) and 25% (RI and Art), respectively. Students must reach a minimal classification of 9.5 (out of 20) following the formula below. Any parcel of formula needs a minimum level.

0.75 (PI sum or T)+0.1Rl+0.15Art.

Final test (T):  quoted to 20 marks consists  of  25 multiple choice questions with discount system (8 marks), 3 exercises, two relative to theoretical, and one to practical contents, respectively  (6 marks), 1 essay question (3 marks), and 12 short-response questions relative to practical learning (3 marks)

 

Reports from practical learning (Rl): the results, obtained during the laboratory sessions that aimed to decipher a biological problem, will be described by the students in two reports during the semester (10 marks each).

 

The presentation of the scientific paper (Art)  will be quoted in the maximum of 20 marks.

The grade obtained in the final test (T) could be improved in  supplementary exam. The grade obtained in the continous evaluation components, practical reports (Rl) and presentation of the scientific paper (Art), could not be increased in the school year.

 

Classification improvement

Possible.

Observations

Students with special statutes that prevent failure due to absences in laboratory practical classes, may be exempt from the assessment components that are associated with their frequency. Students who, with due justification, join the FMUP after the start of the school year, or that are forced to be excluded from school, may be exempt from the assessment components that take place in their absence. In these situations, an adjustment of the formula for calculating the final classification will take place.