Genetic instability and disease

Code:

OPT12

Acronym:

DAIG

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2021/2022 - 2S (of 14-02-2022 to 29-07-2022)

Active?	No
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	0	Plano Oficial 2021	2	-	2	19	54

Teaching language

Portuguese

Objectives

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

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

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

- Identify epigenetic modifications and nuclear markers of genomic instability currently employed in diagnostic of genomic instability-associated diseases

- Understand how dysregulation of cell cycle control mechanisms lead to pathology
 
- Identify age-associated modifications that intervene in genome integrity 

- Understand the molecular basis and phenotype features of diseases associated with modifications of the genome integrity maintenance mechanisms 

- Caracterize the main diseases associated to failure of the mechanisms that maintain the integrity of the genome and identify the clinical interventions for counseling, treatment or control of those diseases

- Understand the gene-silencing therapeutical interventions and thier applicability to genomic instability-associated 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. As well, the clinical interventions, including gene-silencing therapies will be discussed.

Working method

À distância

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

Mandatory literature

Alberts, Bray, Lewis, Raff, Roberts and Watson ; Molecular Biology of the Cell. 6th ed, Garland Publishing, Inc. New York, 2014
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
Lodish, Berk, Kaiser, Krieger, Scott, Bretscher, Ploegh, Matsudaira; Molecular Cell Biology, 9th edition, Freeman and company. New York, 2021

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) - 19 h

- 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.

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)
Estudo autónomo	15,00
Frequência das aulas	19,00
Trabalho escrito	20,00
Total:	54,00

Eligibility for exams

Presence is mandatory in 14 of the 19 theoretical sessions.

Calculation formula of final grade

Final assessment will be obtained considering 100% for the written proof.