Medical Genetics

Code:

M325

Acronym:

GM

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2024/2025 - 2S (of 17-02-2025 to 13-06-2025)

Active?	Yes
Web Page:	https://moodle.up.pt/course/view.php?id=3246
Responsible unit:	Molecular Pahology and Immunology
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	176	Official Study Plan	3	-	3	28	81

Teaching language

Suitable for English-speaking students

Objectives

Concepts: genetic disease as an extreme of human variability; types of hereditary disease; genetic risks; diagnostic techniques for hereditary diseases; genetics of common diseases; genetic factor in cancer; screening, prevention and treatment of genetic diseases; the ethical, legal and social issues of genetic diseases.

Skills: to collect, register and interpret a family history; to determine the hereditary nature of a disease; to evaluate genetic risks; to recognize the psychosocial impact of a hereditary disease; to recognize chromosomal syndromes and the most frequent hereditary diseases; to know the indications for genetic testing, to interpret frequent results and to know its limitations.

Competences: to suspect/perform the correct diagnosis of some of the most frequent genetic diseases; to know how and when to reference patients and relatives to a clinical genetics service; to learn how to help patients in their decision-making without influencing with personal believes, to respect autonomy and not to judge choices.

Learning outcomes and competences

The theoretical syllabus includes all the concepts proposed in the objectives, in summary: to acquire "genetic thinking" about medical conditions.To recognize the role of genes, environment and other factors in health and illness. To understand genetic regulation in development and metabolism. To comprehend variability and individual susceptibility. To have notions about prevention and treatment of genetic diseases. To think about ethic problems. The practical sessions, with exercises, will favour the acquisition of the attitudes proposed in the objectives: to know how to collect, register and interpret correctly a family history; to evaluate simpler genetic risks; to recognize the most frequent chromosome syndromes and hereditary diseases; to know the indications and limitations for cytogenetic, biochemical or molecular testing and how to interpret its more frequent results; to understand the need of appropriate referral to a genetic service. By the end, students should have acquired the core competences described as needed.

Working method

Presencial

Pre-requirements (prior knowledge) and co-requirements (common knowledge)

Population genetics

Basic genetics

Histology and embryology

Cell biology

Program

Theoretical sessions:

Basic concepts of Medical Genetics and impact of genetic diseases

Mendelian disease: autosomal dominant and recessive inheritance

Sex-linked and nontraditional modes of inheritance

Clinical cytogenetics: the chromosomal basis of Human disease

Biochemical genetics and inborn errors of metabolism

Developmental genetics

Tumor suppressor genes and oncogenes in inherited cancer predisposition

DNA repair genes in inherited cancer predisposition

Multifactorial inheritance

Screening and prevention of genetic diseases

Prenatal and preimplantation genetic diagnosis

Treatment of genetic diseases, genetic therapy, and pharmacogenetics

Genetic counseling, ethics and relevant legislation

 

Practical sessions:

Methodology of familial studies and simple risk calculation

Simple risk calculation with unknown genotype

Complex risks with bayesian calculation

Cytogenetic techniques

Nomenclature of chromosome alterations

Transmission risks of chromosome alterations

Molecular genetics techniques  

Sequence variants nomenclature

Practical approach of Clinical genetics 

Practical approach to Hemachromotosis 

Practical approach to Familial amyloidotic polyneuropathy

Practical approach to inherited cancer predisposition

Mandatory literature

Lynn B. Jorde, John C. Carey e Michael J. Bamshad; Medical Genetics, 6th edition, Elsevier, 2020. ISBN: 9780323596534 / 9780323596541 (https://www.eu.elsevierhealth.com/medical-genetics-9780323596541.html)

Complementary Bibliography

Peter D Turnpenny & Sian Ellard & Ruth Cleaver; Emery's Elements of Medical Genetics and Genomics, 16th Edition, Elsevier, 2022. ISBN: 9780702079665 (https://www.eu.elsevierhealth.com/emerys-elements-of-medical-genetics-and-genomics-9780702079665.html)

Comments from the literature

The slides and additional complementary bibliography will be made available in the Moodle platform.

Teaching methods and learning activities

Theoretical sessions: lecturing and discussion of the program themes, emphasizing the clinical relevance of the concepts and their present and potential applications and stimulating interaction between students and teacher through active discussions.

Practical sessions: Learning and practical training of the main tools of evaluation and diagnosis of genetic diseases (pedigrees, genetic risk calculation, cytogenetic analyses, molecular genetic tests, practical examples with short clinical cases). 

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Designation	Weight (%)
Exame	90,00
Teste	10,00
Total:	100,00

Amount of time allocated to each course unit

Designation	Time (hours)
Frequência das aulas	28,00
Estudo autónomo	53,00
Total:	81,00

Eligibility for exams

Minimum frequency of 75% of practical classes (with the exceptions allowed by the legislation).

Calculation formula of final grade

Continuous Assessment of Theoretical and Practical Classes

Questions will be made available weekly regarding the theoretical class (which can be discussed at the end of the class, if there is time) and the practical class (taking into account possible timing deviations between classes), to be answered via Moodle remotely (any browser) and without supervision (one can respond several times, the last responses are valid until the end of the following week). This continuous assessment (AC) is worth 2 values ​​for the final grade, with no minimum grade to carry out the knowledge assessment by frequencies or final exam.

 

Assessment of knowledge by frequencies or final exam

The assessment that focuses on the knowledge acquired in theoretical classes and practical classes may be carried out in one of the following ways:

9. Two frequency tests (TF; carried out in the interim evaluation periods), which are worth 18 points in total, resulting in the classification of this component being the arithmetic sum of the two TFs, with students who obtain a classification equal to or greater than 9.50 values being approved considering TF and AC together (AC+TF). In the 1st frequency, knowledge regarding theoretical classes 1 to 6, inclusive, and practical classes 1 to 6, inclusive, will be assessed. In the 2nd frequency, knowledge regarding the remaining theoretical and practical classes will be assessed.
10. Final exam (EF), to be carried out during the normal exam period of the 1st semester, to which students who have not attended both TF, who failed in the AC+TF modality, or who communicate to the Professor in advance that they intend to cancel the classification of the TFs. This final exam is classified from 0 to 18 points, with students who obtain a classification equal to or greater than 9.50 points in the final exam and continuous assessment (AC+EF) being approved. All students have access to the exam for the appeal/improvement period. Only the EF grade (from the normal season or appeal/improvement season) on a scale of 0-20 will be considered for the final classification if this grade is higher than AC+EF.

 

The questions relating to AC, TF and EF are multiple choice, correspondence or similar (through Moodle), covering both the theoretical and practical teaching components, in approximate proportion to the workload of each topic.

 

Calculation of the final classification:

The final classification of the curricular unit (CFUC) is calculated using one of the following formulas:

1. CFUC = AC+TF
2. CFUC = AC+EF (or just EF if higher on a scale of 0-20 than AC+EF)

 

N.B.: Final classifications are rounded to the highest unit from 5 tenths and to the lowest unit up to 49 hundredths of value.

Examinations or Special Assignments

Not applicable.

Internship work/project

Not applicable.

Special assessment (TE, DA, ...)

According to the general rules of MIM.

Classification improvement

According to the general rules of MIM.