Clinical-Laboratory Molecular Diagnosis

Basic knowledge of: cellular and molecular biology, genetics,, biochemistry and chemistry.

Theoretical classes aim at a detailed presentation of the syllabus, using expository and interactive methodology, appealing to the students’ intervention.

In laboratory practice classes, practical work will be carried out according to the protocols, followed by interpretation and discussion of the results.

 The student must acquire knowledge of:

 – Understanding, at the molecular level, of cellular processes and the importance of functioning and cytohistological regulation, aiming to support clinical diagnosis and monitoring of pathologies;

 – Conventional and automated methodologies for extraction and amplification of nucleic acids and subsequent qualitative and quantitative evaluation.

 The student must acquire skills to:

 – Recognize and apply concepts and principles at molecular level;

 – Select the most appropriate methodologies for the biological product, analysis and pathology;

 The student must acquire skills to:

 – Analyze, synthesize, process and communicate information using appropriate methodologies;

 – Develop an attitude of critical analysis in terms of the work carried out.

 – Show the ability to apply new methodologies of molecular biology, in response to clinical-laboratory diagnosis and monitoring of pathologies in the areas of intervention of laboratory biomedical sciences.

Theoretical

– Molecular diagnosis in health and biomedicine;

– Function of nucleic acids: DNA, mtDNA, RNA, miRNAs;

– Epigenetics;

– Bioinformatics as a tool in the molecular biology laboratory;

– Methodologies for extraction, quantification and evaluation of nucleic acids in biological products (conventional and automated methods);

– Polymerization chain reaction (PCR): varieties and laboratory application;

– Sanger sequencing and application;

– NGS (next generation sequencing);

– Massive parallel sequencing.

 Practice

 – Collection of biological samples to carry out laboratory techniques;

 – Application of methodologies, to biological samples, of extraction and analysis of nucleic acids and subsequent interpretation of results: Extraction (DNA, RNA, microRNAs);

 – Quantification and evaluation of the degree of purity of nucleic acids;

 – Agarose gel electrophoresis;

 – Polymerization chain reaction (PCR and qPCR);

 – Restriction enzymes (RFLP);

 – cDNA synthesis;

 – Cloning.

NAO

 Primary bibliography:

 -LODISH, Harvey [et al.] – Molecular cell biology. 5th ed. New York : W.H. Freeman and Company, cop. 2004. XXXIII, 973, 56 p. ISBN 0-7167-4366-3.

 -AZEVEDO, Carlos ; SUNKEL, Cláudio E., ed. lit. – Biologia celular e molecular. 5ª edição atualizada e aumentada. Lisboa : Lidel, cop. 2012. XXVI, 629 p. ISBN 978-972-757-692-0.

 -STRACHAN, Tom ; READ, Andrew P. – Genética molecular humana. 2ª ed. Porto Alegre : Artmed, 2002. XXIII, 576 p. ISBN 978-85-7307-907-X.

 -VOGEL, Friedrich ; MOTULSKY, Arno G. – Genética humana : problemas e abordagens. Terceira edição revista e ampliada. Rio de Janeiro : Guanabara Koogan, 2008. XXIX, [3], 684 p. ISBN 978-85-277-0554-7.

 Secondary bibliography:

-Clark, David P. [et al.] – Molecular Biology. 3ªed. Academic Press, Elsevier, 2019. 1001 p. ISBN 978-0-12-813288-3.