Genomics in Medicine
Keywords |
Classification |
Keyword |
OFICIAL |
Medicine |
Instance: 2024/2025 - 1S (of 16-09-2024 to 10-01-2025) 
Cycles of Study/Courses
Acronym |
No. of Students |
Study Plan |
Curricular Years |
Credits UCN |
Credits ECTS |
Contact hours |
Total Time |
MIM |
20 |
Official Study Plan |
2 |
- |
3 |
28 |
81 |
Teaching Staff - Responsibilities
Teaching language
Portuguese and english
Objectives
Unity of Genomics in Medicine can play a role in showing the student a broad view on the efficient use of health resources. Allowing the student to widen the knowledge on Genetics acquired in the 1st year of Course in Medicine and to ensure appropriate and efficacious future clinical practice while noticing the recent advances in laboratory genetic research and its impact on the diagnosis, prevention and treatment of hereditary disorders.
Learning outcomes and competences
The student must acquire knowledge, about:
- Recent technological advances in the genomic area
- The application of genomics in the diagnosis of hereditary disorders
- Use cytogenetics, molecular genetics and biochemical genetics approaches to identify disease aetiology
The course aims to train students with the ability to clinical practical application:
- Define strategies, algorithms, and tools for accurate analytical diagnosis
- Interpret and explain the meaning of uncertain significance clinical result
- Discuss genomic improvements and state-of-the-art techniques
At the end of this course unit, the student will develop the managerial capability to:
- Devise strategies and implement research programs that promote hereditary disorders diagnosis;
- Know and apply the main therapeutic approaches to implement actions in terms of preventive genomic medicine
- Drawing on collective expertise, for future application in medical disciplines
Working method
Presencial
Pre-requirements (prior knowledge) and co-requirements (common knowledge)
Ability to read, understand and express both written and orally English language at a level to attain and adequate access to the recommended bibliography and allow suitable medical and scientific communications.
Program
- Genomic Medicine: evidence-based strategies and approaches
- Diagnostic tests and algorithms used in clinical investigation
- Precision medicine for continuing phenotype expansion
- “From clinic to bench” search for biochemical evidence
- Personalized medicine - from pre-womb to tomb
Mandatory literature
Manolio TA, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Goldrich M, Jarvik GP, Mensah GA, Relling MV, Roden DM, Rowley R, Tamburro C, Williams MS, Green ED; Genomic Medicine Year in Review: 2020, Am J Hum Genet. 2020 Dec 3;107(6):1007-1010, 2020
Green, E.D., Gunter, C., Biesecker, L.G. et al; Strategic vision for improving human health at The Forefront of Genomics., Nature 586, 683–692 (2020), 2020
Teaching methods and learning activities
The syllabus will be delivered using research-based and active learning methods, namely think-pair-share, group discussions and case studies. Laboratory simulation to solve problems associated with the contents of the lectures. National and international guest lecture(s) on some hot topics on translational medicine.
keywords
Health sciences > Medical sciences > Medicine > Rare deseases
Evaluation Type
Distributed evaluation without final exam
Assessment Components
Designation |
Weight (%) |
Participação presencial |
10,00 |
Apresentação/discussão de um trabalho científico |
70,00 |
Prova oral |
20,00 |
Total: |
100,00 |
Amount of time allocated to each course unit
Designation |
Time (hours) |
Apresentação/discussão de um trabalho científico |
2,00 |
Frequência das aulas |
21,00 |
Trabalho de investigação |
5,00 |
Total: |
28,00 |
Eligibility for exams
Students can complete the evaluation before the end of the term.
The assessment by test consists of three components:
- Group project elaboration and individual presentation (70%);
- Oral test in response to the presentation referred to in 1 (20%);"
- Assiduity and participation (10%);
The minimum score to obtain in the project is 8,5 points in 20. Will be exempt from the realization of the final exam students who obtain in the final classification of periodic assessment an overall score equal to or greater than 9,5 values in 20.
Calculation formula of final grade
CF = M1*0.70 + PO*0.20 + AP*0.10
M1: INDIVIDUAL PRESENTATION
OT: ORAL TEST
AP: ATTENDANCE AND PARTICIPATION
CF: FINAL CLASSIFICATION
Special assessment (TE, DA, ...)
Students with special statuses (e.g., working students, student union leaders) who are unable to participate in activities M1 and PO will have their assessments supplemented by a written exam
Classification improvement
The possibility of improving the classification will be carried out through an Oral Exam