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Medical genetics: a multidisciplinary approach II

Code: GML06     Acronym: GMAMII

Keywords
Classification Keyword
CNAEF Health

Instance: 2024/2025 - SP (of 02-09-2024 to 31-01-2025) Ícone do Moodle

Active? Yes
Responsible unit: Anatomy
Course/CS Responsible: Medical and laboratorial genetics

Cycles of Study/Courses

Acronym No. of Students Study Plan Curricular Years Credits UCN Credits ECTS Contact hours Total Time
GML 8 Oficial plan 1 - ,5 4 13,5

Teaching Staff - Responsibilities

Teacher Responsibility
Lídia Mariana Rodrigues Pereira Monteiro

Teaching - Hours

Theoretical classes: 0,14
Type Teacher Classes Hour
Theoretical classes Totals 1 0,143
Joana Catarina Damásio Correia dos Santos 0,036
Lídia Mariana Rodrigues Pereira Monteiro 0,071
Maria Margarida Paiva Coelho 0,036

Teaching language

Portuguese
Obs.: Português

Objectives

This module will cover the impact of genomic information and genetic diagnosis on the assessment of predisposition, diagnosis, treatment and prognosis of endocrine and metabolic pathologies.

Learning outcomes and competences

Students will learn about the impact of genomic information and genetic diagnosis on the assessment of predisposition, diagnosis, treatment and prognosis of endocrine and metabolic pathologies.

Working method

Presencial

Program

The pathologies to be treated as models of the clinical applications of genetics will be:
-Obesity and diabetes mellitus (Mariana P. Monteiro)
Monogenetic causes of obesity and genetic variations associated with predisposition to common obesity. Obesity as a clinical manifestation of genetic syndromes, the example of Prader-Willi Syndrome. Monogenic and polygenic causes
- Energy Metabolism Diseases (Margarida Paiva Coelho)
- Degenerative Diseases (Joana Damásio)

Mandatory literature

williams; williams textbook of endocrinology

Comments from the literature

Articles referenced in the supporting documents - particularly in the lecturers  presentation.

Teaching methods and learning activities

A theoretical review of the state of the art will be presented for each of the topics chosen to illustrate the clinical applications of clinical diagnosis. The presentations will be illustrated with clinical cases of patients diagnosed at the Centro Hospitalar do Porto, followed up in clinical practice by the participants, using pathology models.

Evaluation Type

Evaluation with final exam

Assessment Components

Designation Weight (%)
Exame 100,00
Total: 100,00

Amount of time allocated to each course unit

Designation Time (hours)
Frequência das aulas 4,00
Total: 4,00

Eligibility for exams

Attendance at a minimum of 75% of classes is required.

Calculation formula of final grade

Not applicable - 100% final exam
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