Curricular Unit:			Code:
Molecular Genetics			1202GMOL
Year:	Level:	Course:	Credits:
3	Master	Pharmaceutical Sciences	5 ects
Learning Period:		Language of Instruction:	Total Hours:
Spring Semester		Portuguese/English	65
Learning Outcomes of the Curricular Unit:
At the end of the unit the student should be able to: 1)understand the heredity phenomena at the molecular level, discussing them with genetic, epigenetic and cytogenetic molecular mechanisms 2)understand the utility of genetic and cytogenetic techniques for the diagnosis of hereditary diseases, genetic risk factors, acquired genetic diseases and infectious diseases. 3)develop lab skills relevant to the research and 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 including epigenetic mechanisms, transcription and translation. Armed with this knowledge, the course will then focus on the mendelian and non-mendelian modes of inheritance,genetics of development, pharmacogenetics and pharmacogenomics and the techniques used in the molecular genetic lab, focusing latter on concrete examples of application in a clinical context.
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 centred in an advanced scientific curriculum (Part I) and a practical component centred 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 moments 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.
Reading:
•Krebs J.E. Goldstein E.S., Kilpatrick ST., 2018, “Genes XII”, Jones and Bartlett Publishers, Inc, London •José Cabeda, 2019. “Fundamentos de Genética e Genómica: do laboratório à clínica” (Manuscrito fornecido aos alunos) •Cardoso-IL, Cabeda JM, Roseira MG., 2013, Manual de Trabalhos Práticos de Genética. Edições Universidade Fernando Pessoa •Regateiro F.J., 2007, “Manual de Genética Médica”, 1ª. Edição - 2ª reimpressão, Imprensa da Universidade de Coimbra. •Cabeda JM., Moreno ACA. 2014. “Sequenciação de ácidos nucleicos em Biomedicina”.