Medical genetics: a multidisciplinary approach II
| Keywords |
| Classification |
Keyword |
| CNAEF |
Health |
Instance: 2024/2025 - SP (of 02-09-2024 to 31-01-2025) 
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
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