Molecular Diagnostics

Code:

B4016

Acronym:

B4016

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2015/2016 - 1S

Active?	Yes
Responsible unit:	Department of Biology
Course/CS Responsible:	Master in Cell and Molecular Biology

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
M:BCM	14	Official Study Plan until 2023/2024	1	-	6	42	162

Teaching language

Portuguese

Objectives

To understand basic principles behind molecular diagnostics To recognise different contexts of applications To master main techniques and analytical tools

Learning outcomes and competences

NA

Working method

Presencial

Program

1. Human genome diversity in health and disease • Different applications of molecular diagnostics 2. Types of pathogenic mutations • Single base mutations - Exonic mutations (CpG, etc) - Intronic mutations - Mutations in regulatory regions • Insertion/Deletion (small and large) • Expansions • Methylation (hypo or hypermethylation) 3. Molecular diagnostics methodologies • PCR- polymerase chain reaction; allele-specific PCR • Real-time quantitative PCR • SSCP- Single-Strand Conformation Polymorphism • RFLP- Restriction Fragment Length Polymorphism • Minisequencing (SNaPshot® – Applied Biosystems) • Sequencing • MLPA- Multiplex Ligation-Dependent Probe Amplification • aCGH- Array Comparative Genomic Hybridization 4. Genetic therapies • Current developments and future perspectives 5. Disease-associated repeat expansions • Diseases caused by expanded repeats (examples, clinical presentation) • Mutations (repetitive motifs, location, intergenerational and somatic instability) • Functional genomics (gene function, isoforms, homologues, expression and celular location) • Pathogenesis • Molecular diagnostic techniques (diagnosis and pre-symptomatic, pre-natal and pre-implantatory tests: capillary electrophoresis, long-range PCR and Southern blot analysis, repeat-primed PCR) 6. Haplotype analysis in the study of genetic disorders • Origin of disease-causing mutations • Genetic counseling (disease modifiers) • Development of potential therapies 7. Epigenetics and molecular diagnostics • Epigenetics - a non-mendelian mode of transmission • Epigenetic marks: DNA methylation and chromatin modifications • Epigenetic alterations in disease: - Fragile X and ICF syndromes - Imprinting defects: Prader-Willi and Angelman syndromes • X chromosome inactivation and its impact on the phenotype of X-linked diseases

Mandatory literature

Jobling Mark A.; Human evolutionary genetics. ISBN: 978-0-8153-4185-7 0-8153-4185-7
Strachan Tom; Human molecular genetics 3. ISBN: 978-0-8153-4184-0 0-8153-4184-9
Allis C. David, Jenuwein Thomas, Reinberg Danny and Caparros Marie-Laure (eds) ; Epigenetics, Cold Spring Harbor Laboratory Press
Buckingham Lela; Molecular diagnostics. ISBN: 9780803626775
Keller Andreas 340; Nucleic acids as molecular diagnostics. ISBN: 9783527335565

Teaching methods and learning activities

Theoretical classes: expositive lectures interspersed with periods of open discussion Practical classes: participated through the organization of problem solving teams

keywords

Health sciences > Medical sciences > Medicine > Diagnostics

Evaluation Type

Evaluation with final exam

Assessment Components

designation	Weight (%)
Exame	100,00
Participação presencial	0,00
Total:	100,00

Eligibility for exams

NA

Calculation formula of final grade

classification obtained in the final examination

Examinations or Special Assignments

NA

Special assessment (TE, DA, ...)

NA

Classification improvement

NA