Medical Genetics II

Code:

MI212

Acronym:

GM2

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2010/2011 - 2S

Active?	Yes
Web Page:	http://moodle1011.med.up.pt
Responsible unit:	Laboratory of Medical Genetics
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	310	Mestrado Integrado em Medicina 2007	2	-	4	42	108

Teaching language

Portuguese

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.

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; Eugenism.

Teaching methods and learning activities

Lectures - 1 hour per week.
Seminars / Practical sessions - 2 hours per week.
Supervised training of one half day, in groups of 6 students, directed toward observation and participation in the laboratorial, molecular and cytogenetic work of the Genetics Department.

Evaluation Type

Evaluation with final exam

Eligibility for exams

Final test with 28 multiple-choice questions (quotation: 14,0 values) and 6 written answer questions (quotation: 6,0 values). Minimum average for approval: 9.5

Observations

BIBLIOGRAPHY
Emery’s Elements of Medical Genetics - Peter Turnpenny, Sian Ellard. Elsevier, 13th Edition, 2007; Medical Genetics – Jorde, Carey, Bamshad, White. Mosby, 4th Edition, 2006; Human Genetics: Concepts and Applications - Richi Lewis. McGraw-Hill, 7th Edition, 2007; Genetics in Medicine - Thompson & Thompson. Saunders, 6th Edition, 2001; Scientific Journals and papers: up-to-date news or reviews.