Complements of Metabolism

Code:

OPT2_14

Acronym:

CM

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2021/2022 - 1S (of 20-09-2021 to 14-01-2022)

Active?	Yes
Responsible unit:	Molecular Biology
Course/CS Responsible:	Integrated Masters Degree in Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIM	19	Official Study Plan	2	-	3	28	81

Teaching language

Portuguese

Objectives

Complements of Metabolism is an optional UC of the 2nd year of the MIM, and therefore its aim is to provide the student with a special interest in Biochemistry/human metabolism the opportunity to further develop his/her knowledge in this area. The UC will be focused on the metabolic alterations associated with genetic diseases. Several monogenic disorders will be studied and used as vehicles to illustrate how alterations in one molecule (e.g., an enzyme or a membrane channel) lead to severe metabolic alterations with consequences in diverse organs/systems. In a few cases, an historical perspective on the disease and its treatment will be presented. The aim is also to destroy the too-often preconceived idea that research in medical sciences is a complex transcending activity.

Learning outcomes and competences

This UC covers a set of rather heterogeneous metabolic diseases. The idea behind this heterogeneity is to ensure that many of the biochemical pathways previously addressed during the first year (in the UC Biochemistry and Metabolism) are revisited, but now in an advanced manner. In this way, the student skills to understand the metabolic alterations associated with diverse pathologies, their biochemical diagnosis and treatments will increase.  
This UC will adopt a special format in which most of the contact time will be leaded, not by the teachers, but by the students themselves. This choice will ensure that the main aim of this UC is accomplished. The main aim is not to memorize the numerous secondary metabolic pathways but rather to learn how to find, organize, rationalize and present the information necessary to understand a given metabolic disorder. Obviously, this task will also result in advanced competences in the understanding of human metabolism, with an impact in many other genetic or non-genetic metabolic disorders.

Working method

Presencial

Program

Diabetes – Molecular mechanisms involved in the pathogenesis and treatment strategies. The molecular and cellular biology of hypercholesterolemia. Monogenic metabolic disorders: 1) mitochondrial disorders (e.g., beta-oxidation and OXPHOS); 2) Lysosomal storage diseases (e.g., Gaucher disease and cystinosis); 3) Peroxisomal disorders (the single enzyme deficiencies and the biogenesis disorders); 4) Disorders of biotin metabolism; and 5) Foldopathies (cystic fibrosis and hyperoxaluria type I as examples). Biochemical alterations and potential future treatments.

Mandatory literature

NIH; NIH Genetics Home Reference. ISBN: https://ghr.nlm.nih.gov/
Thomas M. Devlin; Textbook of biochemistry with clinical correlations. ISBN: 978-0-470-28173-4
McKusick-Nathans Institute of Genetic Medicine; OMIM. ISBN: http://www.ncbi.nlm.nih.gov/omim

Teaching methods and learning activities

This UC requires 28 hours of student presence. This contact time will have a theoretical-practical format. The idea is to implement an informal learning environment “forcing” the student to an active participation. In fact, with a few exceptions in which teachers are in full charge of teaching, most of the contact time will be leaded by the students themselves. It will be their responsibility to gather, organize and present the information necessary to describe a given pathology. This will develop their bibliography search skills and their capacities to present and discuss experimental data. All the presentations prepared by the students will be analysed and discussed with the students before formal presentation to the other students. This task, due to the efforts involved, will make 70 % of the final grade. The remaining points will be obtained by the elaboration of a small written report on the topic that was presented by the student (20%) and participation in the discussions on the topics presented by the other students (10%).

Evaluation Type

Distributed evaluation without final exam

Assessment Components

Designation	Weight (%)
Participação presencial	10,00
Apresentação/discussão de um trabalho científico	70,00
Trabalho escrito	20,00
Total:	100,00

Amount of time allocated to each course unit

Designation	Time (hours)
Apresentação/discussão de um trabalho científico	1,00
Estudo autónomo	20,00
Frequência das aulas	28,00
Trabalho escrito	4,00
Total:	53,00

Eligibility for exams

According to the Rules of the Pedagogic Counsil.

Calculation formula of final grade

Oral presentation of a paper/topic: 70%
Written report on the pathology(ies) presented: 20%
Presence and participation in the classes: 10%