2020/2021

2022/2023

DM270

MED/03 (GENETICA MEDICA)

DIPARTIMENTO DI MEDICINA MOLECOLARE

MEDICINA E CHIRURGIA (IN LINGUA INGLESE)

PERCORSO COMUNE

3°

Primo Semestre (03/10/2022 - 13/01/2023)

2

16 ore di attività frontale

English

ORALE

ACHILLI ALESSANDRO (titolare) - 1 CFU
VALENTE ENZA MARIA - 1 CFU

Basic Knowledge of genetics

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

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.

Frontal lessons with open discussion

Presentation slides that will be distributed along with papers and documentation that will be used during the course.

Evaluation and presentation of a scientific article focusing on specific topics discussed during the lessons.

For further information: enzamaria.valente@unipv.it
alessandro.achilli@unipv.it

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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