Medicine is based on biology, and biology is based on evolution. The enterprise here is to understand how to use the basic science of evolutionary and population genetics in the services of medicine and public health
Medicine is based on biology, and biology is based on evolution. The enterprise here is to understand how to use the basic science of evolutionary and population genetics in the services of medicine and public health
Course Prerequisites
Basic Knowledge of genetics
Teaching Methods
Frontal lessons with open discussion.
Assessment Methods
Evaluation and presentation of a scientific article focusing on specific topics discussed during the lessons.
Texts
Presentation slides that will be distributed together with papers and documentation that will be used during the course.
Contents
Sequencing of the human genome and variability of the genome. Concepts of Darwinian fitness and evolution of the genome. What makes us different? Main categories of genomic variability (structural rearrangements, copy number variants, single nucleotide variants, small insertions/deletions, mini- and microsatellite variants) and mechanisms sustaining genomic variability. Assessment of variant pathogenicity in relation to phenotypes. Founder effect and founder mutations, genetic isolates, linkage and linkage disequilibrium, haplotype blocks, concepts of evolution genetics based on haplotype structure. Evolution of copy number variants and variability of repeats.
Course Language
English
More information
For further information: enzamaria.valente@unipv.it
