Enrollment year
2020/2021
Academic discipline
MED/03 (MEDICAL GENETICS)
Department
DEPARTMENT OF MOLECULAR MEDICINE
Course
MEDICINE AND SURGERY (IN ENGLISH LANGUAGE) (ENGLISH LANGUAGE)
Curriculum
PERCORSO COMUNE
Period
1st semester (03/10/2022 - 13/01/2023)
Lesson hours
16 lesson hours
Prerequisites
Basic Knowledge of genetics
Learning outcomes
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 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.
Teaching methods
Frontal lessons with open discussion
Reccomended or required readings
Presentation slides that will be distributed along with papers and documentation that will be used during the course.
Assessment methods
Evaluation and presentation of a scientific article focusing on specific topics discussed during the lessons.
Further information
For further information: enzamaria.valente@unipv.it
alessandro.achilli@unipv.it
Sustainable development goals - Agenda 2030
Some of the topics in this course fit with Goals 3 (Good health & well-being) and 4 (quality instruction) of the 2030 Agenda for Sustainable Development.
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Università di Pavia - Offerta formativa