Genomics in Medicine

Code:

OPT2_30

Acronym:

GM

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2021/2022 - 2S (of 21-02-2022 to 17-06-2022)

Active?	Yes
Responsible unit:	Microscopy
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	42	Official Study Plan	2	-	3	28	81

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:

1. Recent technological advances in the genomic area
2. The application of genomics in the diagnosis of hereditary disorders
3. 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:

1. Define strategies, algorithms, and tools for accurate analytical diagnosis
2. Interpret and explain the meaning of uncertain significance clinical result
3. Discuss genomic improvements and state-of-the-art techniques

At the end of this course unit, the student will develop the managerial capability to:

1. Devise strategies and implement research programs that promote hereditary disorders diagnosis;
2. Know and apply the main therapeutic approaches to implement actions in terms of preventive genomic medicine
3. 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

1. Genomic Medicine: evidence-based strategies and approaches


2. Diagnostic tests and algorithms used in clinical investigation


3. Precision medicine for continuing phenotype expansion


4. “From clinic to bench” search for biochemical evidence


5. 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	20,00
Apresentação/discussão de um trabalho científico	50,00
Teste	30,00
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: 

1. Three quiz tests (30%);


2. Group project elaboration and individual presentation (50%); 


3. Assiduity and participation (20%);

Calculation formula of final grade

CF = M1*0.30 + M2*0.50 + AP*0.20

 

M1: PROVAS ESCRITAS (3 TESTES POR QUIZ) / WRITTEN TESTS;

M2: APRESENTAÇÃO INDIVIDUAL/ INDIVIDUAL PRESENTATION;

AP ASSIDUIDADE E PARTICIPAÇÃO);

CF: CLASSIFICAÇÃO FINAL / FINAL CLASSIFICATION