MEDICAL GENETICS
cod. 1009787

Learning objectives

To give the basis of Human Genetics for the understanding of the pathogenesis of the diseases with a genetic basis

Prerequisites

None

Course unit content

Human Genetics

Full programme

Classification of the genetic bases of the human diseases: mendelian and complex diseases
Classification and effect of the DNA mutations
Human chromosomes and thier numerical and structural abnormalities
The mendelian inheritance: the autosomal dominant, autosomal recessive and X-linked inheritance
Consanguineity and the calculation of recurrence risksin the recessive disesase
Elements of population genetics: Hardy-Weinberg equilibrium and its applications for the calculation of the allelic and genotypic frequencies
Examples of bayesian calculations applied to the recurrence of disease with incomplete penetrance and to the X-linked diseases.
Genetic maps and linkage analysis: general principles
Multifactorial diseases and linkage disequilibrium
Atypical inheritance: digenic, mithocondrial, imprinting
Techniques of genetic and cytogenetic analysis

Bibliography

Emery's Elements of Medical Genetics and Genomics, 16th Edition, 2021 by Peter D Turnpenny, Sian Ellard, and Ruth Cleaver

Teaching methods

Lectures

Assessment methods and criteria

Multiple choice questionnaries and open questions

Other information

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2030 agenda goals for sustainable development