Curricular Unit:			Code:
Molecular Genetics			146GMOL
Year:	Level:	Course:	Credits:
2	Undergraduate	Clinical Analyses and Public Health	6 ects
Learning Period:		Language of Instruction:	Total Hours:
		Portuguese	78
Learning Outcomes of the Curricular Unit:
The unit aims at giving the student the opportunity to develop its knowledge on the way genetics explains: -heredity phenomena both of organisms and its cellular constituents -relation of genetic and epigenetic phenomena with cellular physiology -Utility of molecular techniques for diagnosis of hereditary diseases, genetic risk factors for family associated diseases, genetic diseases of somatic cells and infectious diseases. -The student should also be able to develop lab skills relevant to the clinical molecular biology lab.
Syllabus:
The course will include the basic aspects of molecular genetics, from the discovery of the genetic material, its various forms, composition, structure, cellular distribution and organization, to the molecular mechanisms of genetic information preservation, genetic expression regulation, transcription and translation. Armed with this basic knowledge, the course will then focus on the techniques used in the molecular genetics lab, focusing latter on concrete examples of application to the clinical analysis in immunology, microbiology, hematology and onco-hematology.
Demonstration of the Syllabus Coherence with the Curricular Unit's Objectives:
The vertiginous scientific and technological evolution of genetics in the last decades has resulted in the development of advanced molecular diagnostic techniques with therapeutic and research implications in an ever broader area of medicine (monogenic hereditary diseases, oncology, cardiovascular diseases, immunological diseases, infectious diseases, forensics, etc.). This broad applicability of genetics not only to diagnostics but increasingly to preventive medicine, together with the high level of ever improving technological sophistication, imposes high demands on the present and future field professionals, particularly in terms of solid technological and scientific backgrounds. The Molecular Genetics curricular unit was designed to address this demanding background, having thus a syllabus centered in an advanced scientific curricula (Part I) and a practical component centered on the laboratory use of advanced techniques with clear research and clinical use (Part II).
Teaching Methodologies (Including Evaluation):
Part I: Oral and slide based Lectures aiming at providing the student with the technical and scientific knowledge documented in the syllabus. Final approval will be evaluated with 2 written examinations (70% of the Curriculum unit final grade). Part II: On Laboratory classes students will perform lab experiments (described in detail in the laboratory bibliography) with research or clinical purposes. On practical Classes students will use Bioinformatics tools to the analysis of provided anonymous clinical data. On technological classes new or emerging technologies will be presented and discussed using slides and illustrative animation videos. Approval will be dependent on 2 written examinations (10%), student performance in the Lab (10%) and an oral presentation (10%) of a bibliographic research work done by the student. This work aims at improving the student autonomy regarding the search, selection, reading, understanding, organization and communication of scientific information.
Demonstration of the Coherence between the Teaching Methodologies and the Learning Outcomes:
Part I: Theoretical classes will be based on oral lectures using slides and video animations whenever possible. This classes will be also supported on individual tutorial sessions (outside of the classes timetables) aiming at the personal orientation of the student study. In this way, acquisition of knowledge by the student will be a three moment process: first contact will be based on oral transmission (with visual guides) and the teacher’s personal experience; in a second moment, the student is asked to get involved in the bibliography and develop knowledge autonomously; on the third moment, the student will individually have the teacher’s support to fill in gaps or change study strategy. Part II: Practical skills will be mainly developed in the laboratory. Thus, practical classes will include genetic research and clinical genetic protocols for the analysis of clinical samples. Nevertheless, the fact that nowadays the research and clinical genetic laboratory are not only concerned with producing data, but increasing amounts of efforts are used to the complex analysis of an increasingly complex flow of genetic data, Bioinformatics classes will also be a major practice. In these, real clinical data will be analysed by the students using freeware software and online freely available databases and software tools. Emphasis will also be given to the use of the same tools to the development of new research and clinical genetic laboratory assays. The vertiginous rhythm of technological development makes it unlikely that any given lab has access to all new genetic techniques at any time point. For this reason, evolving state-of-the-art techniques will be the subject of technological classes. During these, these techniques will be explained with the use of slides, video-animations, study visits to outside labs whenever possible, as well as in student’s presentations using the most recent literature. This last option (to be performed by each student) will help the development of the student’s skills in the search, selection, reading, understanding, organization and communication of scientific information.
Reading:
- Cabeda JM.(2012) A Genética Molecular na Investigação e Prática Clínica. (Manuscrito em preparação facultado aos alunos) - Cabeda JM. Moreno A. (2014) A sequenciação de ácidos nucleicos em Biomedicina. Edições da Universidade Fernando Pessoa. - Cardoso IL., Cabeda JM., Ribeiro MG. (2013). Manual de Trabalhos Práticos de Genética.2ªed. Edições da Universidade Fernando Pessoa. -Lewin B., 2007, “Genes IX” -Griffiths A.J.F. et al., 1997, “An introduction to genetic analysis” -H. Lodish et al., 2000, “Molecular Cell Biology -R.Lewis Human Genetics: concepts and applications (4ªed. 2001) McGraw-Hill -Turnpenny P., Ellard S. Emery’s Elements of Medical Genetics. (13th ed.) (2007) Elsevier, Philadelphia. -Avner & Heard. Nat.Rev.Genet.(2001).2:59-67 -Cremer & Cremer. Nat.Rev.Genet.(2001).2:292-301 -Epigenetics. Science(2001).293:1065-1105 -Robertson et al. Nat.Rev.Genet.2000.1:11