Genétics

Recommended Prerequisites

The 1st and 2nd year disciplines in the area of Medicine.    

Teaching Methods

Magistral classes.

Laboratory Rotations.

Seminars.

Learning Outcomes

• Describe the formation and functioning of the genome

• Explain the molecular mechanisms of disease and human variability

• Explain the mechanisms of variability in response to drugs

• Apply knowledge of normal and pathological genome to identify new therapeutic targets.

• Use the methods of molecular biology in the identification of therapeutic targets.

Work Placement(s)

No

Syllabus

 The human genome

 Structural and functional characterisation of genetic information

 Regulation of gene expression

 Polymorphisms and genetic variability

 Mutations and molecular pathology

 Aetiology of genetic diseases

Monogenic diseases

Complex diseases

Chromosomic diseases

 Genetics of hemoglobinopathies

 Innate errors of metabolism

 Genetics of cancer

 Pharmacogenomics

Normal variation in drug response

Diseases producing changes in drug response

Identification of therapeutic targets – methodologiess and models

 Therapeutics of genetic diseases.

Head Lecturer(s)

Henriqueta Alexandra Mendes Breda Lobo Coimbra Silva

Assessment Methods

Assessment
Resolution Problems: 30.0%
Exam: 70.0%

Bibliography

  - Human Molecular Genetics 3; Tom Strachen&Andrew P. Read

- Genética en Medicina: Thompson&Thompson, 5ª Edição.

- Manual de Genética Médica; Fernando J. Regateiro. Imprensa da Universidade, 1ª Edição

- Genomics and Pharmacogenomics in Anticancer Drug Development and Clinical Response. Reviewed by ER Gardner and WD Figg. Edited by Federico Innocenti. Humana Press, 2009.

- Pharmacogenomics And Personalized Medicine( Series - Methods In Pharmacology And Toxicology ). Edited by Nadine Cohen, 2008