Clinical Genetics

Code:

MI328

Acronym:

GC

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2019/2020 - 2S (of 10-02-2020 to 31-07-2020)

Active?	Yes
Responsible unit:	Departamento de Patologia
Course/CS Responsible:	Integrated Master in Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMED	284	Mestrado Integrado em Medicina- Plano oficial 2013 (Reforma Curricular)	3	-	3	28	81

Teaching language

Suitable for English-speaking students

Objectives

To acquire the fundamental knowledge of the etiopathogenesis of genetic diseases. To teach the students the gestures of the geneticist's activity and the care that the assisting or family doctor should have, not only in tracking the cases that can have eventual genetic interest but also in the relationship with the patient and the geneticist, for the best effectiveness of the genetic counseling.
To establish with the students the framing and interrelations of the existing knowledge for an easier understanding of the new knowledge and develop students’ capacity to correctly transmit to patients and family the information that concerns them, once the situation has been defined by the geneticist.

Learning outcomes and competences

The contents transmitted in lectures and later analyzed and discussed in seminars and during consultations allow acquisition of learning objectives.

Working method

Presencial

Program

Congenital malformations; Autosomic chromosomopathies; Heterosomic chromosomopathies; Abnormal metabolism of sugars and amino acids; Mucopolysaccharidosis; Fabry Disease; Cystic fibrosis; Hemocromatosis; Renal polycystic disease; Otosclerosis; Hemoglobinopathies; X-fragile syndrome; Phenilketonuria; Rett syndrome; Neurodegenerative and neuromuscular disorders; Genetic factors of cardiovascular diseases; Cancer genetics; Genetic causes of infertility and of recurrent abortions; Genetic implications of the reproduction technologies; Prenatal diagnosis; Genetic therapeutics; Genetic counseling; Ethical aspects of the geneticist's intervention.

Mandatory literature

Peter Turnpenny, Sian Ellard; Emery's Elements of Medical Genetics , Elsevier, 2017. ISBN: 9780702066856

Complementary Bibliography

Richi Lewis; Human Genetics: Concepts and Applications , McGraw-Hill, 2014. ISBN: 0073525367

Teaching methods and learning activities

Lectures (20h), seminars (6h) and tutorial orientation (2h - consultation).

keywords

Health sciences > Medical sciences > Medicine

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	28,00
Elaboração de relatório/dissertação/tese	1,00
Estudo autónomo	52,00
Total:	81,00

Eligibility for exams

Obligatory assistance of 5 seminars (7,5h) and consultation (2h).

Calculation formula of final grade

Final exam (100%)