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From the Genotype to the Phenotype

Organizer: Isabel Carreira

Date: 2 - 6 March 2020

The course schedule can be found here

Background and Goals:

Discuss some concepts and basic mechanisms of genetics, cytogenetics and genomics associated with various genetic diseases.

Evaluate and describe what methodologies and technologies to use when faced with a particular genetic pathology.

Evaluate and describe what are the genetic changes that have direct impact on the phenotype of its carrier, and what is the impact for the offspring.

Distinguish between diseases of immediate or late manifestation.

Evaluate and describe what are the implications of a genetic diagnosis and genetic counselling both for, the patient as for the family.

Explore the strengths and weaknesses of the new technologies of molecular biology, cytogenetics and genomics as for example the arrayCGH and NGS.

Analyse the impact these new technologies have on diagnosis and research as well as the ethical implications


Review of concepts in genetics and genomics and the genotype/phenotype correlation.

New concepts of functional genomics and integrated (or integrative) and the implications for the phenotype

Laboratory diagnosis of genetic diseases, new diagnostic technologies, advantages and limitations. Legislation in the area of medical/laboratory genetics and diagnosis.

Diagnosis and implications associated with cognitive, cardiac, ophthalmic, neurological and late onset disorders. (The topics will differ from year to year, in order to introduce a variety of themes/areas), Discussion of the implications and diagnostic strategies both for the patient and for the family members at risk as well as in prenatal care.

Role of the clinical geneticist in genetic counselling.

Role of the clinical laboratory geneticist in the diagnosis and in the genotype/phenotype correlation.

Discussion of ethical issues associated with diagnosis and research; Quality controls; External evaluations of quality