Genetic instability and disease

Code:

OPT12

Acronym:

DAIG

Keywords
Classification	Keyword
OFICIAL	Medicine

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

Active?	Yes
Responsible unit:	Departamento de Biomedicina
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	39	Mestrado Integrado em Medicina- Plano oficial 2013 (Reforma Curricular)	2	-	3	28	81
			3

Teaching language

Portuguese

Objectives

After approval, the students should get the knowledge necessary to:

- Identify human genome organization and the methodology employed for genome study

- Identify DNA-protein interactions associated with DNA replication, repair, recombination and dynamics of the genome

- Identify makers of genomic instability (ex. DNA microsatellite)

- Identify the main techniques employed for molecular studies, and cellular and animal models for diagnostic and therapeutic assays of genomic instability-associate diseases

- Identify epigenetic modifications associated to genomic instability

- Identify nuclear markers associated to genomic instability employed in diagnostic

- Understand how dysregulation of cell cycle control mechanisms lead to pathology

- Caracterize the main diseases associated to failure of the mechanisms that maintain the integrity of the genome

- Understand and present scientific publications that link molecular studies to genomic instability-associate diseases

Learning outcomes and competences

The main objective of the UC “Genomic instability and disease” is to integrate the recent knowledge about the dynamics of the human genome with the diseases associated with the failure of the mechanisms that maintain its stability. The teaching staff includes medical doctors and researchers of the studied pathologies.

The syllabus is extensively dedicated to molecular mechanisms of maintenance of integrity of the genome, methodology employed for study and diagnostic and genomic instability-associated diseases.

Working method

Presencial

Program

Genome dynamics and genomic instability

Replication and maintenance of DNA integrity. Maintenance of the length of telomeres.

DNA repair

Epigenetics of genomic instability

Control of cell division

Nuclear targets for control of genomic instability

Diagnostic techniques of genomic instability

Genomic instability in cancer

Neurologic diseases associated to faillure of DNA repair mechanisms

Syndrome of Lynch

Progeroid syndromes (Hutchinson-Gilford, Cockaine, Bloom, Werner and laminopathies)

Xeroderma pigmentosa and trichothiodystrophy

Fanconi anemia

Endocrine dysregulation coupled to Fanconi anemia

Hereditary breast cancer

Genetic counseling in hereditary cancer

Genomic instability in infertility

Genomic instability in age-related disease

Genetic silencing therapies

Viruses, hormones and genetics: under the influence of microRNA

Mandatory literature

Alberts, Bray, Lewis, Raff, Roberts and Watson ; Molecular Biology of the Cell. 6th ed, Garland Publishing, Inc. New York, 2014
Lodish, Berk, Kaiser, Krieger, Scott, Bretscher, Ploegh, Matsudaira; Molecular Cell Biology 7th ed, Freeman and company. New York, 2012
Hartwell, Goldberg, Fischer, Hood, Aquadro ; Genetics: from genes to genomes. 5 th ed, McGraw-Hill, 2014
Strachan, Tom, Read, Andrew ; Human Molecular Genetics 4 . 4th ed, Garland Science, 2010
Ricki,Lewis ; Human Genetics, Concepts and Applications. 10th Ed, McGraw-Hill, 2012

Complementary Bibliography

Cooper, Hausman ; The Cell. A Molecular approach. 7th ed, AMS Press, U.S.A, 2016

Teaching methods and learning activities

Theoretical learning (sessions of basic and clinical contents) - 18h

- Sessions for presenting and discuss scientific papers. Each student should prepare a presentation - 7-10h

- On-line learning                                                                                                            

The written assessment will be constituted by a four open-answer questions proof, that will be downloaded from the web page of the UC and prepared with bibliographical support, before sending to the coordinator. Final assessment will be obtained considering 60% for the written proof and 40% for paper oral presentation.

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Designation	Weight (%)
Exame	60,00
Prova oral	40,00
Total:	100,00

Amount of time allocated to each course unit

Designation	Time (hours)
Apresentação/discussão de um trabalho científico	15,00
Estudo autónomo	18,00
Frequência das aulas	28,00
Trabalho escrito	20,00
Total:	81,00

Eligibility for exams

Presence is mandatory in 14 of the 18 theoretical sessions.

Calculation formula of final grade

Final assessment will be obtained considering 60% for the written proof and 40% for paper oral presentation.